Taille (hg38) : 2,903,920 bases - Taille (hg19) : 3,270,696 bases
CNV-Hub AChro-Puce
Pathogénique
Critères AChro-Puce pris en compte 1
2 Minor
4 Major
4 Major
4 Minor
4 Minor
4 Minor
5
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG critères
ClassifyCNV
2A
+
1
2H
+
0.15
3C
+
0.9
AnnotSV
2A
+
1
3C
+
0.9
Maladies :
| Gène | Maladie | Source | Transmission héréditaire |
|---|---|---|---|
| HIRA | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
| UFD1 | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
| TBX1 | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
| ARVCF | 22q11.2 deletion syndrome | Orphanet | Autosomal dominant |
| CRKL | Distal 22q11.2 microdeletion syndrome | Orphanet | Autosomal dominant |
| LZTR1 | Schwannomatosis | Orphanet | Autosomal dominant |
| MAPK1 | Distal 22q11.2 microdeletion syndrome | Orphanet | Autosomal dominant |
| SLC25A1 | Presynaptic congenital myasthenic syndromes | Orphanet | Autosomal dominant, Autosomal recessive |
| CDC45 | Ear-patella-short stature syndrome | Orphanet | Autosomal dominant, Autosomal recessive |
| PRODH | Hyperprolinemia type 1 | Orphanet | Autosomal recessive |
| CLTCL1 | Congenital insensitivity to pain with severe intellectual disability | Orphanet | Autosomal recessive |
| TXNRD2 | Familial glucocorticoid deficiency | Orphanet | Autosomal recessive |
| SCARF2 | Van den Ende-Gupta syndrome | Orphanet | Autosomal recessive |
| SNAP29 | CEDNIK syndrome | Orphanet | Autosomal recessive |
| GP1BB | Fetal and neonatal alloimmune thrombocytopenia | Orphanet | Not applicable |
| UBE2L3 | Systemic lupus erythematosus | Orphanet | Not applicable |
| CLDN5 | cldn5-related neurodevelopmental disorder | DDG2P | |
| TANGO2 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | Orphanet | |
| PI4KA | Bilateral perisylvian polymicrogyria | Orphanet |
ClinGen
0 bénin CNV0 probablement bénin CNV
5 incertain CNV
0 probablement pathogénique CNV
73 pathogénique CNV
70% Chevauchement
Decipher
0 bénin CNV118 inconnu CNV
11 incertain CNV
118 pathogénique CNV
70% Chevauchement
DGV-Gold
0
80% Chevauchement
0
50% Chevauchement
DGV
0
80% Chevauchement
1
50% Chevauchement
Étude de Coe & Al 6
10
Cas Patient
70% Chevauchement
1
Cas Contrôle
70% Chevauchement
Gènes avec pHaplo > 0.55 7
13
HIRA CLDN5 TBX1 DGCR8 RTN4R SCARF2 MED15 PI4KA SERPIND1 CRKL HIC2 UBE2L3 MAPK1
Gènes avec pTriplo > 0.68 7
15
HIRA TBX1 DGCR8 RANBP1 SCARF2 KLHL22 MED15 PI4KA CRKL THAP7 HIC2 UBE2L3 PPIL2 MAPK1
Gènes dans OMIM
52
Sources et références
1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.
2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article
3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.
4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article
5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304
6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71
7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25
2 Microdeletion and microduplication syndromes from litterature (>=70% seulement)
DGS/VCFS AD (22q11.2)
Localisation : 18,924,718 - 21,111,383
| Taille : 2,186,665 bases
Cases :
Gottlieb_1998
McDermid_2002
Kaminsky_2011
Burnside_2015
Morrow_2018
DGS/VCFS AC (22q11.2)
Localisation : 18,924,718 - 20,692,999
| Taille : 1,768,281 bases
Cases :
Burnside_2015
Morrow_2018
52 Gènes OMIM chevauchés
Télécharger la liste des gènes en .csv
Localisation : 20,707,691 - 20,859,417
Maladie : Bilateral perisylvian polymicrogyria
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:600286 Orphanet:98889 HGNC:8983 PMID:25855803 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,330,698 - 19,447,450
Maladie : 22q11.2 deletion syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:600237 Orphanet:567 HGNC:4916 PMID:15177686 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,179,473 - 19,291,719
Maladie : Congenital insensitivity to pain with severe intellectual disability
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:601273 Orphanet:453510 HGNC:2093 PMID:26068709 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Localisation : 21,759,657 - 21,867,680
Maladie : Distal 22q11.2 microdeletion syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:176948 Orphanet:261330 HGNC:6871 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,495,913 - 20,587,632
Bases de données :
DecipherGenomics OMIM:607372 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,036,282 - 19,122,454
Bases de données :
DecipherGenomics OMIM:600594 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,549,447 - 21,624,034
Maladie : Systemic lupus erythematosus
Source : Orphanet
Bases de données :
DecipherGenomics OMIM:603721 Orphanet:536 HGNC:12488 PMID:23917156 PMID:22045845 PMID:22476155 PMID:24091983 PMID:23943494 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,783,223 - 19,854,939
Bases de données :
DecipherGenomics PanelApp OMIM:610778 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Localisation : 19,875,517 - 19,941,820
Maladie : Familial glucocorticoid deficiency
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:606448 Orphanet:361 HGNC:18155 PMID:24601690 GTEx Portal Human Protein Atlas Ensembl
Localisation : 18,970,439 - 19,031,242
Bases de données :
DecipherGenomics OMIM:618040 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,441,519 - 20,495,844
Bases de données :
DecipherGenomics OMIM:618020 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,017,014 - 20,067,164
Maladie : Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:616830 Orphanet:480864 HGNC:25439 PMID:26805782 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,969,896 - 20,016,823
Maladie : 22q11.2 deletion syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:602269 Orphanet:567 HGNC:728 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,241,415 - 20,283,246
Bases de données :
DecipherGenomics OMIM:605566 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,479,457 - 19,520,612
Maladie : Ear-patella-short stature syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:603465 Orphanet:2554 HGNC:1739 PMID:27374770 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,697,536 - 21,735,794
Bases de données :
DecipherGenomics OMIM:608082 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,917,407 - 20,953,747
Maladie : Distal 22q11.2 microdeletion syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:602007 Orphanet:261330 HGNC:2363 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,417,371 - 21,451,463
Bases de données :
DecipherGenomics OMIM:607712 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,666,000 - 21,700,015
Bases de données :
DecipherGenomics OMIM:607588 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,859,007 - 20,891,214
Maladie : CEDNIK syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:604202 Orphanet:66631 HGNC:11133 PMID:15968592 PMID:2107345 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,080,221 - 20,111,877
Bases de données :
DecipherGenomics PanelApp OMIM:609030 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,449,911 - 19,479,202
Maladie : 22q11.2 deletion syndrome
Source : Orphanet
Bases de données :
DecipherGenomics OMIM:601754 Orphanet:567 HGNC:12520 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,756,703 - 19,783,593
Maladie : 22q11.2 deletion syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:602054 Orphanet:567 HGNC:11592 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Localisation : 18,912,777 - 18,936,553
Maladie : Hyperprolinemia type 1
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:606810 Orphanet:419 HGNC:9453 PMID:20524212 PMID:234626 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Localisation : 20,129,456 - 20,148,007
Bases de données :
DecipherGenomics OMIM:608784 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,009,808 - 21,028,013
Bases de données :
DecipherGenomics OMIM:608077 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,207,973 - 21,225,554
Bases de données :
DecipherGenomics OMIM:137181 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,982,269 - 20,999,032
Maladie : Schwannomatosis
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:600574 Orphanet:93921 HGNC:6742 PMID:24362817 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Localisation : 20,965,108 - 20,981,360
Bases de données :
DecipherGenomics OMIM:617298 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,130,279 - 19,144,684
Bases de données :
DecipherGenomics OMIM:601755 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,394,115 - 20,408,461
Bases de données :
DecipherGenomics OMIM:194548 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,774,113 - 20,787,720
Bases de données :
DecipherGenomics PanelApp OMIM:142360 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,424,584 - 20,437,826
Maladie : Van den Ende-Gupta syndrome
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:613619 Orphanet:2460 HGNC:19869 PMID:20887961 PMID:2214038 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,115,938 - 20,127,355
Bases de données :
DecipherGenomics OMIM:601180 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,714,503 - 19,724,224
Bases de données :
DecipherGenomics OMIM:602724 GTEx Portal Human Protein Atlas Ensembl
Localisation : 18,906,028 - 18,914,238
Bases de données :
DecipherGenomics OMIM:601279 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,314,238 - 20,320,080
Bases de données :
DecipherGenomics OMIM:609459 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,545,666 - 21,551,461
Bases de données :
DecipherGenomics OMIM:612701 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,383,751 - 21,389,478
Bases de données :
DecipherGenomics OMIM:612700 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,111,875 - 20,117,392
Bases de données :
DecipherGenomics OMIM:611151 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,523,024 - 19,527,545
Maladie : cldn5-related neurodevelopmental disorder
Source : DDG2P
Bases de données :
DecipherGenomics PanelApp OMIM:602101 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,028,718 - 21,032,840
Bases de données :
DecipherGenomics OMIM:603752 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,432,545 - 19,436,075
Bases de données :
DecipherGenomics PanelApp OMIM:605089 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,146,993 - 19,150,292
Bases de données :
DecipherGenomics OMIM:601845 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,175,581 - 19,178,739
Maladie : Presynaptic congenital myasthenic syndromes
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:190315 Orphanet:98914 HGNC:10979 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,999,104 - 21,002,196
Bases de données :
DecipherGenomics OMIM:609518 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,642,302 - 21,644,299
Bases de données :
DecipherGenomics OMIM:607551 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,628,089 - 21,630,064
Bases de données :
DecipherGenomics OMIM:619770 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,131,308 - 19,132,622
Bases de données :
DecipherGenomics OMIM:610710 GTEx Portal Human Protein Atlas Ensembl
Localisation : 19,723,539 - 19,724,771
Maladie : Fetal and neonatal alloimmune thrombocytopenia
Source : Orphanet
Bases de données :
DecipherGenomics PanelApp OMIM:138720 Orphanet:853 HGNC:4440 GTEx Portal Human Protein Atlas Ensembl
Localisation : 20,033,139 - 20,033,220
Bases de données :
DecipherGenomics OMIM:615576 GTEx Portal Human Protein Atlas Ensembl
Localisation : 21,653,304 - 21,653,385
Bases de données :
DecipherGenomics OMIM:613682 GTEx Portal Human Protein Atlas Ensembl
138 Gène(s) Non-OMIM chevauché(s)
C22orf39
Taille : 96,343 bases
Localisation : 19,351,368 - 19,447,711
ENSG00000290983
Taille : 74,844 bases
Localisation : 21,208,138 - 21,282,982
ENSG00000283809
Taille : 41,494 bases
Localisation : 18,906,238 - 18,947,732
ENSG00000287146
Taille : 36,932 bases
Localisation : 19,291,969 - 19,328,901
ENSG00000290981
Taille : 40,684 bases
Localisation : 20,616,230 - 20,656,914
PI4KAP2
Taille : 44,533 bases
Localisation : 21,473,000 - 21,517,533
COMT
Taille : 28,604 bases
Localisation : 19,941,371 - 19,969,975
ENSG00000290950
Taille : 22,118 bases
Localisation : 20,350,578 - 20,372,696
SMPD4P1
Taille : 23,539 bases
Localisation : 20,602,595 - 20,626,134
ENSG00000291240
Taille : 24,325 bases
Localisation : 21,008,247 - 21,032,572
FAM230B
Taille : 24,398 bases
Localisation : 21,167,758 - 21,192,156
FAM230H
Taille : 24,052 bases
Localisation : 21,300,990 - 21,325,042
ENSG00000284294
Taille : 11,330 bases
Localisation : 18,936,411 - 18,947,741
ENSG00000280418
Taille : 7,578 bases
Localisation : 18,951,934 - 18,959,512
CELSR1P1
Taille : 8,665 bases
Localisation : 18,985,836 - 18,994,501
ENSG00000284874
Taille : 7,552 bases
Localisation : 19,717,220 - 19,724,772
RTL10
Taille : 8,758 bases
Localisation : 19,846,138 - 19,854,896
ENSG00000289960
Taille : 12,447 bases
Localisation : 19,854,972 - 19,867,419
ENSG00000236540
Taille : 12,539 bases
Localisation : 20,058,030 - 20,070,569
PRODHLP
Taille : 13,456 bases
Localisation : 20,299,760 - 20,313,216
FAM230G
Taille : 15,567 bases
Localisation : 20,338,805 - 20,354,372
USP41
Taille : 13,630 bases
Localisation : 20,363,621 - 20,377,251
ENSG00000277971
Taille : 17,379 bases
Localisation : 20,429,241 - 20,446,620
POM121L4P
Taille : 9,009 bases
Localisation : 20,689,929 - 20,698,938
LINC01637
Taille : 7,590 bases
Localisation : 20,957,092 - 20,964,682
ENSG00000285314
Taille : 18,659 bases
Localisation : 20,979,462 - 20,998,121
THAP7-AS1
Taille : 8,456 bases
Localisation : 21,001,886 - 21,010,342
ENSG00000226872
Taille : 12,763 bases
Localisation : 21,031,354 - 21,044,117
ENSG00000290799
Taille : 9,769 bases
Localisation : 21,035,243 - 21,045,012
LRRC74B
Taille : 18,222 bases
Localisation : 21,045,946 - 21,064,168
ENSG00000284665
Taille : 9,936 bases
Localisation : 21,071,082 - 21,081,018
ENSG00000291044
Taille : 19,302 bases
Localisation : 21,102,984 - 21,122,286
ENSG00000197210
Taille : 9,844 bases
Localisation : 21,114,607 - 21,124,451
ENSG00000290961
Taille : 10,395 bases
Localisation : 21,193,360 - 21,203,755
ENSG00000207751
Taille : 18,053 bases
Localisation : 21,652,184 - 21,670,237
ENSG00000283583
Taille : 630 bases
Localisation : 18,980,695 - 18,981,325
ENSG00000271275
Taille : 457 bases
Localisation : 18,997,138 - 18,997,595
ENSG00000283366
Taille : 153 bases
Localisation : 19,014,353 - 19,014,506
ENSG00000270393
Taille : 873 bases
Localisation : 19,018,043 - 19,018,916
FAM246C
Taille : 1,718 bases
Localisation : 19,029,524 - 19,031,242
CA15P1
Taille : 3,000 bases
Localisation : 19,031,564 - 19,034,564
Y_RNA
Taille : 111 bases
Localisation : 19,045,256 - 19,045,367
DGCR11
Taille : 2,213 bases
Localisation : 19,046,162 - 19,048,375
ENSG00000237347
Taille : 711 bases
Localisation : 19,055,801 - 19,056,512
ENSG00000281530
Taille : 802 bases
Localisation : 19,061,041 - 19,061,843
ENSG00000223461
Taille : 2,974 bases
Localisation : 19,121,529 - 19,124,503
ENSG00000272682
Taille : 4,140 bases
Localisation : 19,124,309 - 19,128,449
TSSK1A
Taille : 767 bases
Localisation : 19,124,879 - 19,125,646
ENSG00000289481
Taille : 798 bases
Localisation : 19,170,816 - 19,171,614
LINC01311
Taille : 1,456 bases
Localisation : 19,171,395 - 19,172,851
ENSG00000286367
Taille : 3,681 bases
Localisation : 19,196,402 - 19,200,083
ENSG00000230194
Taille : 296 bases
Localisation : 19,238,443 - 19,238,739
ENSG00000251940
Taille : 93 bases
Localisation : 19,249,873 - 19,249,966
KRT18P62
Taille : 1,286 bases
Localisation : 19,257,520 - 19,258,806
RN7SL168P
Taille : 278 bases
Localisation : 19,365,766 - 19,366,044
UFD1-AS1
Taille : 2,212 bases
Localisation : 19,447,893 - 19,450,105
ENSG00000273300
Taille : 426 bases
Localisation : 19,454,179 - 19,454,605
ENSG00000273212
Taille : 459 bases
Localisation : 19,456,503 - 19,456,962
ENSG00000287652
Taille : 2,197 bases
Localisation : 19,520,572 - 19,522,769
LINC00895
Taille : 1,636 bases
Localisation : 19,565,203 - 19,566,839
ENSG00000230485
Taille : 2,824 bases
Localisation : 19,630,750 - 19,633,574
ENSG00000225007
Taille : 532 bases
Localisation : 19,667,023 - 19,667,555
RPL7AP70
Taille : 800 bases
Localisation : 19,792,294 - 19,793,094
ENSG00000232926
Taille : 681 bases
Localisation : 19,887,289 - 19,887,970
ENSG00000289946
Taille : 5,837 bases
Localisation : 19,933,661 - 19,939,498
MIR4761
Taille : 81 bases
Localisation : 19,963,753 - 19,963,834
ENSG00000268292
Taille : 1,153 bases
Localisation : 20,064,552 - 20,065,705
Metazoa_SRP
Taille : 249 bases
Localisation : 20,070,716 - 20,070,965
MIR3618
Taille : 87 bases
Localisation : 20,085,746 - 20,085,833
MIR1306
Taille : 84 bases
Localisation : 20,086,058 - 20,086,142
ENSG00000243762
Taille : 1,054 bases
Localisation : 20,110,821 - 20,111,875
MIR6816
Taille : 65 bases
Localisation : 20,114,686 - 20,114,751
SNORA77B
Taille : 124 bases
Localisation : 20,126,402 - 20,126,526
CCDC188
Taille : 2,639 bases
Localisation : 20,148,416 - 20,151,055
LINC02891
Taille : 6,189 bases
Localisation : 20,198,729 - 20,204,918
LINC00896
Taille : 2,144 bases
Localisation : 20,206,380 - 20,208,524
MIR1286
Taille : 77 bases
Localisation : 20,249,134 - 20,249,211
ENSG00000273343
Taille : 630 bases
Localisation : 20,318,119 - 20,318,749
ENSG00000273139
Taille : 1,104 bases
Localisation : 20,320,104 - 20,321,208
ENSG00000235578
Taille : 1,162 bases
Localisation : 20,343,203 - 20,344,365
ENSG00000287446
Taille : 5,629 bases
Localisation : 20,348,758 - 20,354,387
RNU6-225P
Taille : 102 bases
Localisation : 20,416,797 - 20,416,899
ENSG00000215493
Taille : 1,702 bases
Localisation : 20,450,122 - 20,451,824
RNY1P9
Taille : 108 bases
Localisation : 20,475,203 - 20,475,311
Y_RNA
Taille : 110 bases
Localisation : 20,481,158 - 20,481,268
RN7SL812P
Taille : 278 bases
Localisation : 20,481,935 - 20,482,213
KRT18P5
Taille : 1,290 bases
Localisation : 20,482,815 - 20,484,105
ENSG00000236003
Taille : 1,800 bases
Localisation : 20,522,070 - 20,523,870
CCDC74BP1
Taille : 4,722 bases
Localisation : 20,587,496 - 20,592,218
IGLL4P
Taille : 132 bases
Localisation : 20,632,619 - 20,632,751
SLC9A3P2
Taille : 2,020 bases
Localisation : 20,652,730 - 20,654,750
ABHD17AP4
Taille : 3,148 bases
Localisation : 20,667,836 - 20,670,984
ENSG00000290982
Taille : 1,286 bases
Localisation : 20,690,031 - 20,691,317
BCRP5
Taille : 972 bases
Localisation : 20,697,962 - 20,698,934
TMEM191A
Taille : 3,492 bases
Localisation : 20,701,114 - 20,704,606
TMEM191A
Taille : 2,483 bases
Localisation : 20,702,007 - 20,704,490
ENSG00000272600
Taille : 2,008 bases
Localisation : 20,889,206 - 20,891,214
ENSG00000272829
Taille : 882 bases
Localisation : 20,981,351 - 20,982,233
ENSG00000284060
Taille : 6,558 bases
Localisation : 21,002,895 - 21,009,453
TUBA3FP
Taille : 6,099 bases
Localisation : 21,008,193 - 21,014,292
MIR649
Taille : 96 bases
Localisation : 21,034,176 - 21,034,272
P2RX6P
Taille : 2,674 bases
Localisation : 21,042,343 - 21,045,017
TUBA3GP
Taille : 4,635 bases
Localisation : 21,065,462 - 21,070,097
BCRP2
Taille : 3,829 bases
Localisation : 21,115,929 - 21,119,758
POM121L7P
Taille : 2,403 bases
Localisation : 21,125,660 - 21,128,063
E2F6P2
Taille : 747 bases
Localisation : 21,141,624 - 21,142,371
ENSG00000234503
Taille : 1,983 bases
Localisation : 21,177,892 - 21,179,875
FAM247A
Taille : 177 bases
Localisation : 21,203,454 - 21,203,631
ENSG00000283145
Taille : 378 bases
Localisation : 21,228,760 - 21,229,138
E2F6P3
Taille : 742 bases
Localisation : 21,268,161 - 21,268,903
POM121L8P
Taille : 1,280 bases
Localisation : 21,282,881 - 21,284,161
BCRP6
Taille : 3,826 bases
Localisation : 21,290,760 - 21,294,586
ENSG00000237407
Taille : 1,984 bases
Localisation : 21,312,920 - 21,314,904
PPP1R26P5
Taille : 3,663 bases
Localisation : 21,341,595 - 21,345,258
LINC01651
Taille : 3,504 bases
Localisation : 21,354,563 - 21,358,067
FAM246A
Taille : 698 bases
Localisation : 21,360,601 - 21,361,299
ENSG00000226534
Taille : 1,881 bases
Localisation : 21,370,064 - 21,371,945
Metazoa_SRP
Taille : 319 bases
Localisation : 21,379,382 - 21,379,701
RN7SKP63
Taille : 300 bases
Localisation : 21,389,191 - 21,389,491
ENSG00000252020
Taille : 142 bases
Localisation : 21,389,796 - 21,389,938
Metazoa_SRP
Taille : 317 bases
Localisation : 21,396,273 - 21,396,590
Metazoa_SRP
Taille : 316 bases
Localisation : 21,463,963 - 21,464,279
TMEM191C
Taille : 4,846 bases
Localisation : 21,466,423 - 21,471,269
ENSG00000252143
Taille : 142 bases
Localisation : 21,544,897 - 21,545,039
RN7SKP221
Taille : 300 bases
Localisation : 21,545,344 - 21,545,644
Metazoa_SRP
Taille : 319 bases
Localisation : 21,555,138 - 21,555,457
CCDC116
Taille : 4,613 bases
Localisation : 21,632,716 - 21,637,329
ENSG00000273342
Taille : 440 bases
Localisation : 21,640,844 - 21,641,284
MIR301B
Taille : 77 bases
Localisation : 21,652,981 - 21,653,058
ENSG00000284630
Taille : 3,210 bases
Localisation : 21,657,811 - 21,661,021
ENSG00000284651
Taille : 53 bases
Localisation : 21,661,242 - 21,661,295
ENSG00000284654
Taille : 117 bases
Localisation : 21,661,476 - 21,661,593
ENSG00000284621
Taille : 70 bases
Localisation : 21,661,859 - 21,661,929
ENSG00000272954
Taille : 429 bases
Localisation : 21,661,934 - 21,662,363
ENSG00000286365
Taille : 1,252 bases
Localisation : 21,712,761 - 21,714,013
RN7SL280P
Taille : 287 bases
Localisation : 21,722,895 - 21,723,182
ENSG00000286127
Taille : 6,660 bases
Localisation : 21,737,448 - 21,744,108
RNA5SP493
Taille : 90 bases
Localisation : 21,792,434 - 21,792,524
78 ClinGen CNV chevauché(s) (>=70% seulement)
0 Bénin CNV 0 Probablement bénin CNV 5 Incertain CNV 0 Probablement pathogénique CNV 73 Pathogénique CNV
#1 Pathogenic (g.)
Localisation : 18,802,708 - 21,343,709 |
Taille : 2,541,001 bases
Score : 1
Phénotype :
Schizophrenia
#2 Pathogenic (g.)
Localisation : 18,846,938 - 21,221,413 |
Taille : 2,374,475 bases
Score : 1
Phénotype :
Schizophrenia
#3 Pathogenic (g.)
Localisation : 18,880,918 - 21,123,588 |
Taille : 2,242,670 bases
Score : 1
Phénotype :
Schizophrenia
#4 Pathogenic (g.)
Localisation : 18,832,908 - 21,123,588 |
Taille : 2,290,680 bases
Score : 1
Phénotype :
Schizophrenia
#5 Pathogenic (nssv3396760)
Localisation : 18,339,129 - 21,450,597 |
Taille : 3,111,468 bases
Score : 0
#6 Pathogenic (nssv580005)
Localisation : 18,339,129 - 21,454,720 |
Taille : 3,115,591 bases
Score : 1
#7 Pathogenic (nssv579989)
Localisation : 18,339,129 - 21,454,720 |
Taille : 3,115,591 bases
Score : 1
#8 Pathogenic (nssv582145)
Localisation : 18,339,129 - 21,441,926 |
Taille : 3,102,797 bases
Score : 0
#9 Pathogenic (Single allele)
Localisation : 18,948,675 - 21,110,520 |
Taille : 2,161,845 bases
Score : 1
Phénotype :
12 conditions, Velocardiofacial syndrome
#10 Pathogenic (Single allele)
Localisation : 18,948,676 - 21,110,520 |
Taille : 2,161,844 bases
Score : 1
Phénotype :
Velocardiofacial syndrome
#11 Pathogenic (Single allele)
Localisation : 18,985,738 - 21,081,116 |
Taille : 2,095,378 bases
Score : 1
Phénotype :
Chromosome 22q11.2 microduplication syndrome
#12 Pathogenic (nssv582649)
Localisation : 18,178,956 - 21,454,720 |
Taille : 3,275,764 bases
Score : 0
#13 Pathogenic (nssv582358)
Localisation : 18,339,129 - 21,307,146 |
Taille : 2,968,017 bases
Score : 0
#14 Pathogenic (g.)
Localisation : 18,159,878 - 21,362,822 |
Taille : 3,202,944 bases
Score : 1
Phénotype :
Schizophrenia
#15 Pathogenic (g.)
Localisation : 18,159,878 - 21,387,988 |
Taille : 3,228,110 bases
Score : 1
Phénotype :
Schizophrenia
#16 Pathogenic (nssv580061)
Localisation : 18,389,244 - 21,207,225 |
Taille : 2,817,981 bases
Score : 1
#17 Pathogenic (nssv580035)
Localisation : 18,339,129 - 21,207,225 |
Taille : 2,868,096 bases
Score : 2
#18 Pathogenic (nssv575800)
Localisation : 18,339,129 - 21,207,225 |
Taille : 2,868,096 bases
Score : 0
#19 Pathogenic (nssv576777)
Localisation : 18,339,129 - 21,207,225 |
Taille : 2,868,096 bases
Score : 0
#20 Uncertain significance (nssv582529)
Localisation : 18,389,244 - 21,151,128 |
Taille : 2,761,884 bases
Score : 0
#21 Pathogenic (g.)
Localisation : 18,163,925 - 21,277,123 |
Taille : 3,113,198 bases
Score : 1
Phénotype :
Schizophrenia
#22 Pathogenic (nssv580030)
Localisation : 18,339,129 - 21,151,269 |
Taille : 2,812,140 bases
Score : 1
#23 Pathogenic (nssv575807)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 0
#24 Pathogenic (nssv580058)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 1
#25 Pathogenic (nssv583020)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 0
#26 Pathogenic (nssv575714)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 0
#27 Pathogenic (nssv580039)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 2
#28 Pathogenic (nssv579983)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 1
#29 Uncertain significance (nssv582964)
Localisation : 18,339,129 - 21,151,128 |
Taille : 2,811,999 bases
Score : 0
#30 Uncertain significance (nssv1603648)
Localisation : 18,389,244 - 21,109,830 |
Taille : 2,720,586 bases
Score : 0
#31 Pathogenic (nssv579970)
Localisation : 18,178,956 - 21,207,225 |
Taille : 3,028,269 bases
Score : 1
#32 Pathogenic (nssv576771)
Localisation : 18,178,956 - 21,207,225 |
Taille : 3,028,269 bases
Score : 0
#33 Pathogenic (nssv579976)
Localisation : 18,188,861 - 21,182,552 |
Taille : 2,993,691 bases
Score : 1
#34 Pathogenic (nssv580038)
Localisation : 18,339,129 - 21,086,225 |
Taille : 2,747,096 bases
Score : 2
#35 Pathogenic (nssv579982)
Localisation : 18,339,129 - 21,086,225 |
Taille : 2,747,096 bases
Score : 1
#36 Pathogenic (nssv583242)
Localisation : 18,339,129 - 21,086,225 |
Taille : 2,747,096 bases
Score : 0
#37 Pathogenic (nssv579998)
Localisation : 18,339,129 - 21,086,225 |
Taille : 2,747,096 bases
Score : 1
#38 Pathogenic (nssv582962)
Localisation : 18,339,129 - 21,086,225 |
Taille : 2,747,096 bases
Score : 0
#39 Pathogenic (nssv580057)
Localisation : 18,339,129 - 21,101,267 |
Taille : 2,762,138 bases
Score : 1
#40 Pathogenic (nssv580055)
Localisation : 18,339,129 - 21,101,267 |
Taille : 2,762,138 bases
Score : 1
#41 Pathogenic (nssv580054)
Localisation : 18,339,129 - 21,101,267 |
Taille : 2,762,138 bases
Score : 1
#42 Pathogenic (nssv1610243)
Localisation : 18,339,129 - 21,101,210 |
Taille : 2,762,081 bases
Score : 0
#43 Pathogenic (nssv585256)
Localisation : 18,339,129 - 21,107,463 |
Taille : 2,768,334 bases
Score : 0
#44 Pathogenic (nssv1610455)
Localisation : 18,339,129 - 21,111,370 |
Taille : 2,772,241 bases
Score : 0
#45 Pathogenic (nssv3394942)
Localisation : 18,339,129 - 21,111,370 |
Taille : 2,772,241 bases
Score : 0
#46 Pathogenic (nssv3395024)
Localisation : 18,339,129 - 21,111,370 |
Taille : 2,772,241 bases
Score : 0
#47 Pathogenic (nssv3395105)
Localisation : 18,339,129 - 21,111,370 |
Taille : 2,772,241 bases
Score : 0
#48 Pathogenic (nssv582937)
Localisation : 18,339,129 - 21,086,225 |
Taille : 2,747,096 bases
Score : 0
#49 Pathogenic (nssv706740)
Localisation : 18,339,129 - 21,086,226 |
Taille : 2,747,097 bases
Score : 0
#50 Pathogenic (nssv1495101)
Localisation : 18,339,129 - 21,107,522 |
Taille : 2,768,393 bases
Score : 0
#51 Pathogenic (nssv580059)
Localisation : 18,339,129 - 21,107,522 |
Taille : 2,768,393 bases
Score : 1
#52 Pathogenic (nssv579992)
Localisation : 18,339,129 - 21,107,522 |
Taille : 2,768,393 bases
Score : 1
#53 Pathogenic (nssv1610376)
Localisation : 18,339,129 - 21,109,830 |
Taille : 2,770,701 bases
Score : 0
#54 Pathogenic (nssv3396467)
Localisation : 18,339,129 - 21,109,830 |
Taille : 2,770,701 bases
Score : 0
#55 Pathogenic (nssv1495087)
Localisation : 18,339,129 - 21,109,830 |
Taille : 2,770,701 bases
Score : 0
#56 Pathogenic (nssv3396952)
Localisation : 18,339,129 - 21,111,373 |
Taille : 2,772,244 bases
Score : 0
#57 Pathogenic (nssv3396779)
Localisation : 18,339,129 - 21,111,373 |
Taille : 2,772,244 bases
Score : 0
#58 Pathogenic (nssv3397352)
Localisation : 18,339,129 - 21,111,373 |
Taille : 2,772,244 bases
Score : 0
#59 Pathogenic (nssv3397302)
Localisation : 18,339,129 - 21,111,373 |
Taille : 2,772,244 bases
Score : 0
#60 Uncertain significance (nssv706238)
Localisation : 18,389,244 - 21,086,225 |
Taille : 2,696,981 bases
Score : 0
#61 Pathogenic (nssv1603659)
Localisation : 18,178,931 - 21,151,156 |
Taille : 2,972,225 bases
Score : 0
#62 Pathogenic (nssv706492)
Localisation : 18,178,956 - 21,151,128 |
Taille : 2,972,172 bases
Score : 0
#63 Pathogenic (nssv579995)
Localisation : 18,339,129 - 21,040,441 |
Taille : 2,701,312 bases
Score : 1
#64 Pathogenic (nssv579958)
Localisation : 18,145,251 - 21,151,128 |
Taille : 3,005,877 bases
Score : 1
#65 Pathogenic (nssv706340)
Localisation : 18,145,251 - 21,151,128 |
Taille : 3,005,877 bases
Score : 0
#66 Pathogenic (nssv3395205)
Localisation : 18,161,473 - 21,111,373 |
Taille : 2,949,900 bases
Score : 0
#67 Pathogenic (nssv3395292)
Localisation : 18,166,088 - 21,111,373 |
Taille : 2,945,285 bases
Score : 0
#68 Pathogenic (nssv579959)
Localisation : 18,167,907 - 21,101,267 |
Taille : 2,933,360 bases
Score : 1
#69 Pathogenic (nssv579968)
Localisation : 18,177,785 - 21,101,267 |
Taille : 2,923,482 bases
Score : 1
#70 Pathogenic (nssv1415377)
Localisation : 18,178,956 - 21,107,522 |
Taille : 2,928,566 bases
Score : 0
#71 Pathogenic (nssv1602233)
Localisation : 18,178,956 - 21,109,830 |
Taille : 2,930,874 bases
Score : 0
#72 Pathogenic (nssv582203)
Localisation : 18,339,129 - 21,028,664 |
Taille : 2,689,535 bases
Score : 0
#73 Pathogenic (nssv1495089)
Localisation : 18,145,251 - 21,109,830 |
Taille : 2,964,579 bases
Score : 0
#74 Pathogenic (nssv584206)
Localisation : 18,145,379 - 21,086,226 |
Taille : 2,940,847 bases
Score : 0
#75 Pathogenic (nssv579973)
Localisation : 18,178,956 - 21,086,225 |
Taille : 2,907,269 bases
Score : 2
#76 Pathogenic (nssv583171)
Localisation : 18,178,956 - 21,086,225 |
Taille : 2,907,269 bases
Score : 0
#77 Uncertain significance (nssv3396924)
Localisation : 18,339,129 - 20,980,781 |
Taille : 2,641,652 bases
Score : 0
#78 Pathogenic (nssv1608856)
Localisation : 18,339,129 - 23,480,799 |
Taille : 5,141,670 bases
Score : 0
247 Decipher CNV chevauché(s) (>=70% seulement)
0 Bénin CNV 118 Inconnu CNV 11 Incertain CNV 118 Pathogénique CNV
#1 : unknown
Localisation : 18,894,834 - 21,798,755
| Taille : 2,903,921 bases
Identifiant patient : 280518
Genre : Inconnu
Phénotype :
Global developmental delay
#2 : unknown
Localisation : 18,896,971 - 21,798,755
| Taille : 2,901,784 bases
Identifiant patient : 258265
Genre : Inconnu
Phénotype :
Cryptorchidism, Hypospadias, High palate, Macrocephaly, Posteriorly rotated ears, Low\-set ears, Prominent nasal bridge, Anteverted nares, Blepharophimosis, Abnormal heart morphology
#3 : pathogenic
Localisation : 18,916,841 - 21,800,797
| Taille : 2,883,956 bases
Identifiant patient : 308797
Genre : Inconnu
#4 : pathogenic
Localisation : 18,916,841 - 21,800,797
| Taille : 2,883,956 bases
Identifiant patient : 315022
Genre : Inconnu
Phénotype :
Ventricular septal defect, Delayed gross motor development, Mild short stature, Ventricular septal defect, Delayed gross motor development, Mild short stature
#5 : unknown
Localisation : 18,916,841 - 21,798,907
| Taille : 2,882,066 bases
Identifiant patient : 301241
Genre : Inconnu
#6 : pathogenic
Localisation : 18,916,841 - 21,798,907
| Taille : 2,882,066 bases
Identifiant patient : 327807
Genre : Inconnu
#7 : pathogenic
Localisation : 18,916,841 - 21,798,907
| Taille : 2,882,066 bases
Identifiant patient : 330955
Genre : Inconnu
Phénotype :
Global developmental delay, Abnormal facial shape, Basal ganglia calcification
#8 : pathogenic
Localisation : 18,916,841 - 21,798,907
| Taille : 2,882,066 bases
Identifiant patient : 356289
Genre : Inconnu
Phénotype :
Cleft palate, Abnormality of the pinna, Bulbous nose, Tapered finger, Intellectual disability, Failure to thrive, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve, Abnormal facial shape, Asymmetric crying face, Interrupted aortic arch, Short palpebral fissure, Cleft palate, Abnormality of the pinna, Bulbous nose, Tapered finger, Intellectual disability, Failure to thrive, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve, Abnormal facial shape, Asymmetric crying face, Interrupted aortic arch, Short palpebral fissure
#9 : pathogenic
Localisation : 18,919,475 - 21,798,907
| Taille : 2,879,432 bases
Identifiant patient : 332755
Genre : Inconnu
#10 : pathogenic
Localisation : 18,919,941 - 21,798,755
| Taille : 2,878,814 bases
Identifiant patient : 280739
Genre : Inconnu
Phénotype :
Global developmental delay
#11 : pathogenic
Localisation : 18,919,941 - 21,798,755
| Taille : 2,878,814 bases
Identifiant patient : 292126
Genre : Inconnu
Phénotype :
Microretrognathia, Delayed speech and language development, Global developmental delay, Joint laxity, Failure to thrive, Laryngotracheomalacia, Feeding difficulties
#12 : unknown
Localisation : 18,919,941 - 21,801,661
| Taille : 2,881,720 bases
Identifiant patient : 260264
Genre : Inconnu
#13 : pathogenic
Localisation : 18,919,941 - 21,801,661
| Taille : 2,881,720 bases
Identifiant patient : 287304
Genre : Inconnu
Phénotype :
Global developmental delay, Conotruncal defect, Anal atresia, Postnatal growth retardation, Aplasia\/Hypoplasia of the thymus
#14 : pathogenic
Localisation : 18,933,882 - 21,825,079
| Taille : 2,891,197 bases
Identifiant patient : 400971
Genre : Inconnu
Phénotype :
Hypertelorism, Low\-set ears, Prominent nasal bridge, Long eyelashes, Upslanted palpebral fissure, Periorbital fullness, Single transverse palmar crease, Tapered finger, Short nail, Short stature, Microtia, Wide nasal base, Finger clinodactyly
#15 : unknown
Localisation : 18,896,971 - 21,926,261
| Taille : 3,029,290 bases
Identifiant patient : 276506
Genre : Inconnu
#16 : pathogenic
Localisation : 19,004,734 - 21,798,907
| Taille : 2,794,173 bases
Identifiant patient : 332210
Genre : Inconnu
Phénotype :
Delayed speech and language development, Hypotonia, Global developmental delay, Delayed gross motor development, Congenital muscular torticollis, Delayed fine motor development, Fetal pyelectasis
#17 : unknown
Localisation : 19,023,823 - 21,798,755
| Taille : 2,774,932 bases
Identifiant patient : 1640
Genre : Inconnu
Phénotype :
Cleft palate, Mandibular prognathia, Abnormality of the nasal septum, Coloboma, Hypotelorism, Iris coloboma, Sclerocornea, Delayed speech and language development, Postaxial hand polydactyly, Intellectual disability, Ataxia, Ventricular septal defect, Postaxial foot polydactyly, Facial cleft, Proportionate short stature
#18 : unknown
Localisation : 18,847,960 - 21,661,435
| Taille : 2,813,475 bases
Identifiant patient : 257931
Genre : Inconnu
Phénotype :
Ventricular septal defect, Mild global developmental delay
#19 : pathogenic
Localisation : 18,933,882 - 21,676,849
| Taille : 2,742,967 bases
Identifiant patient : 400935
Genre : Inconnu
Phénotype :
Abnormality of the pinna, Strabismus, Postaxial hand polydactyly, Obesity, Pes planus, Frontal bossing, EEG abnormality, Recurrent infections, Inverted nipples, Pain insensitivity, Finger clinodactyly
#20 : pathogenic
Localisation : 18,933,882 - 21,676,849
| Taille : 2,742,967 bases
Identifiant patient : 400938
Genre : Inconnu
Phénotype :
Sparse and thin eyebrow, Hypotelorism, Premature birth, Short stature, Sparse hair
#21 : pathogenic
Localisation : 18,626,107 - 21,798,907
| Taille : 3,172,800 bases
Identifiant patient : 421079
Genre : Inconnu
Phénotype :
Microcephaly, Hypertelorism, Micrognathia, Abnormality of earlobe, Global developmental delay, Microcephaly, Hypertelorism, Micrognathia, Abnormality of earlobe, Global developmental delay, Microcephaly, Hypertelorism, Micrognathia, Abnormality of earlobe, Global developmental delay
#22 : unknown
Localisation : 18,641,467 - 21,798,705
| Taille : 3,157,238 bases
Identifiant patient : 264397
Genre : Inconnu
#23 : pathogenic
Localisation : 18,644,789 - 21,798,907
| Taille : 3,154,118 bases
Identifiant patient : 282275
Genre : Inconnu
Phénotype :
High palate, Microcephaly, Long face, Micrognathia, Carious teeth, Hyperactivity, Jaundice, Seizure, Intellectual disability, mild, Dysarthria, Global developmental delay, Intrauterine growth retardation, Nasal speech, Ventricular septal defect, Patent ductus arteriosus, Hyperbilirubinemia, Excessive salivation, Speech articulation difficulties, Vascular ring, Meconium stained amniotic fluid, 5\-minute APGAR score of 6, 1\-minute APGAR score of 2
#24 : pathogenic
Localisation : 18,644,789 - 21,800,797
| Taille : 3,156,008 bases
Identifiant patient : 332216
Genre : Inconnu
Phénotype :
Hypocalcemia
#25 : pathogenic
Localisation : 18,648,865 - 21,800,797
| Taille : 3,151,932 bases
Identifiant patient : 299771
Genre : Inconnu
#26 : unknown
Localisation : 18,651,613 - 21,798,755
| Taille : 3,147,142 bases
Identifiant patient : 271451
Genre : Inconnu
#27 : unknown
Localisation : 18,661,747 - 21,808,979
| Taille : 3,147,232 bases
Identifiant patient : 273941
Genre : Inconnu
#28 : unknown
Localisation : 18,661,747 - 21,808,979
| Taille : 3,147,232 bases
Identifiant patient : 282271
Genre : Inconnu
#29 : pathogenic
Localisation : 18,661,747 - 21,808,979
| Taille : 3,147,232 bases
Identifiant patient : 284518
Genre : Inconnu
#30 : pathogenic
Localisation : 18,729,743 - 21,705,113
| Taille : 2,975,370 bases
Identifiant patient : 384171
Genre : Inconnu
Phénotype :
Abnormal social behavior, Fragile teeth, Overweight, Abnormal social behavior, Fragile teeth, Overweight
#31 : pathogenic
Localisation : 18,661,698 - 21,722,313
| Taille : 3,060,615 bases
Identifiant patient : 331184
Genre : Inconnu
Phénotype :
Abnormality of the face, Low\-set ears, Asymmetry of the mouth, Abnormality of cardiovascular system morphology
#32 : pathogenic
Localisation : 18,890,161 - 21,540,347
| Taille : 2,650,186 bases
Identifiant patient : 288045
Genre : Inconnu
Phénotype :
Plagiocephaly, Ventricular septal defect, Frontal bossing, Subdural hemorrhage
#33 : unknown
Localisation : 18,894,634 - 21,505,558
| Taille : 2,610,924 bases
Identifiant patient : 265995
Genre : Inconnu
Phénotype :
Stereotypy, Obesity
#34 : unknown
Localisation : 18,894,634 - 21,505,558
| Taille : 2,610,924 bases
Identifiant patient : 280514
Genre : Inconnu
Phénotype :
Global developmental delay
#35 : unknown
Localisation : 18,894,834 - 21,505,417
| Taille : 2,610,583 bases
Identifiant patient : 280486
Genre : Inconnu
Phénotype :
Global developmental delay
#36 : pathogenic
Localisation : 18,894,834 - 21,505,417
| Taille : 2,610,583 bases
Identifiant patient : 294634
Genre : Inconnu
Phénotype :
Wide mouth, Thick lower lip vermilion, Mandibular prognathia, Bulbous nose, Short neck, Broad neck, Dental malocclusion, Intellectual disability, Contracture of the proximal interphalangeal joint of the 5th finger
#37 : pathogenic
Localisation : 18,894,834 - 21,505,417
| Taille : 2,610,583 bases
Identifiant patient : 404125
Genre : Inconnu
#38 : unknown
Localisation : 18,894,834 - 21,505,417
| Taille : 2,610,583 bases
Identifiant patient : 250908
Genre : Inconnu
#39 : pathogenic
Localisation : 18,894,834 - 21,505,417
| Taille : 2,610,583 bases
Identifiant patient : 366775
Genre : Inconnu
Phénotype :
Ptosis, Delayed speech and language development, Global developmental delay, Brain atrophy
#40 : unknown
Localisation : 18,894,863 - 21,505,387
| Taille : 2,610,524 bases
Identifiant patient : 265315
Genre : Inconnu
#41 : unknown
Localisation : 18,894,863 - 21,505,387
| Taille : 2,610,524 bases
Identifiant patient : 267255
Genre : Inconnu
#42 : unknown
Localisation : 18,894,863 - 21,505,387
| Taille : 2,610,524 bases
Identifiant patient : 277688
Genre : Inconnu
#43 : unknown
Localisation : 18,894,864 - 21,505,388
| Taille : 2,610,524 bases
Identifiant patient : 285366
Genre : Inconnu
#44 : unknown
Localisation : 18,894,864 - 21,505,388
| Taille : 2,610,524 bases
Identifiant patient : 293644
Genre : Inconnu
Phénotype :
Retrognathia, Low\-set, posteriorly rotated ears, Overfolded helix, Laryngotracheomalacia, Mild intrauterine growth retardation, Perimembranous ventricular septal defect, Cognitive impairment, Retrognathia, Low\-set, posteriorly rotated ears, Overfolded helix, Laryngotracheomalacia, Mild intrauterine growth retardation, Perimembranous ventricular septal defect, Cognitive impairment
#45 : pathogenic
Localisation : 18,661,698 - 21,661,435
| Taille : 2,999,737 bases
Identifiant patient : 287971
Genre : Inconnu
Phénotype :
Hirsutism, Triphalangeal thumb, Abnormal sacrum morphology
#46 : pathogenic
Localisation : 18,661,698 - 21,661,435
| Taille : 2,999,737 bases
Identifiant patient : 331010
Genre : Inconnu
Phénotype :
Growth abnormality
#47 : pathogenic
Localisation : 18,661,698 - 21,661,435
| Taille : 2,999,737 bases
Identifiant patient : 331294
Genre : Inconnu
Phénotype :
Abnormal ventricular septum morphology, Abnormal aortic arch morphology
#48 : pathogenic
Localisation : 18,661,698 - 21,661,435
| Taille : 2,999,737 bases
Identifiant patient : 331317
Genre : Inconnu
Phénotype :
Generalized hypotonia, Premature birth, Generalized hypotonia, Premature birth
#49 : pathogenic
Localisation : 18,661,698 - 21,661,435
| Taille : 2,999,737 bases
Identifiant patient : 331351
Genre : Inconnu
Phénotype :
Abnormality of cardiovascular system morphology, Abnormality of cardiovascular system morphology
#50 : unknown
Localisation : 18,661,723 - 21,704,632
| Taille : 3,042,909 bases
Identifiant patient : 293850
Genre : Inconnu
#51 : pathogenic
Localisation : 18,847,960 - 21,499,494
| Taille : 2,651,534 bases
Identifiant patient : 331301
Genre : Inconnu
Phénotype :
Polyhydramnios, Abnormal aortic morphology
#52 : pathogenic
Localisation : 18,876,604 - 21,499,494
| Taille : 2,622,890 bases
Identifiant patient : 289903
Genre : Inconnu
Phénotype :
Congenital hypothyroidism, Unilateral deafness
#53 : pathogenic
Localisation : 18,877,522 - 21,505,417
| Taille : 2,627,895 bases
Identifiant patient : 332406
Genre : Inconnu
#54 : pathogenic
Localisation : 18,877,786 - 21,462,353
| Taille : 2,584,567 bases
Identifiant patient : 304086
Genre : Inconnu
Phénotype :
Global developmental delay
#55 : unknown
Localisation : 18,877,786 - 21,462,353
| Taille : 2,584,567 bases
Identifiant patient : 327576
Genre : Inconnu
Phénotype :
Renal agenesis, Hypertelorism, Cupped ear, Hypotonia, Hiatus hernia, Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, Nasogastric tube feeding
#56 : unknown
Localisation : 18,877,786 - 21,462,353
| Taille : 2,584,567 bases
Identifiant patient : 327630
Genre : Inconnu
#57 : unknown
Localisation : 18,884,837 - 21,465,661
| Taille : 2,580,824 bases
Identifiant patient : 275295
Genre : Inconnu
#58 : pathogenic
Localisation : 18,889,038 - 21,464,119
| Taille : 2,575,081 bases
Identifiant patient : 259106
Genre : Inconnu
Phénotype :
High palate, Global developmental delay, Abnormal heart morphology, Fragile nails, Sparse scalp hair, Alopecia of scalp, Abnormality of limb bone morphology
#59 : pathogenic
Localisation : 18,889,038 - 21,464,119
| Taille : 2,575,081 bases
Identifiant patient : 287518
Genre : Inconnu
Phénotype :
Deeply set eye, Delayed speech and language development, Palmoplantar keratoderma, Talipes, Polymicrogyria, Generalized\-onset seizure, Hemiplegia, Sleep disturbance, Large earlobe, Severe global developmental delay
#60 : unknown
Localisation : 18,889,038 - 21,479,979
| Taille : 2,590,941 bases
Identifiant patient : 266768
Genre : Inconnu
Phénotype :
Submucous cleft hard palate, Bifid uvula, Upslanted palpebral fissure, Delayed speech and language development, Global developmental delay, Hyperconvex nail, Talipes, Abnormal cerebral cortex morphology, Facial palsy
#61 : unknown
Localisation : 18,894,634 - 21,464,260
| Taille : 2,569,626 bases
Identifiant patient : 269045
Genre : Inconnu
#62 : pathogenic
Localisation : 18,894,634 - 21,464,260
| Taille : 2,569,626 bases
Identifiant patient : 278276
Genre : Inconnu
Phénotype :
Aggressive behavior, Stereotypy, Delayed speech and language development, Global developmental delay, Mild postnatal growth retardation, Repetitive compulsive behavior, Abnormal ventricular septum morphology
#63 : uncertain
Localisation : 18,894,819 - 21,468,411
| Taille : 2,573,592 bases
Identifiant patient : 288246
Genre : Inconnu
Phénotype :
Global developmental delay
#64 : unknown
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 260279
Genre : Inconnu
Phénotype :
Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology, Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology, Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology, Microcephaly, Epicanthus, Abnormal scapula morphology, Sagittal craniosynostosis, Abnormal digit morphology
#65 : unknown
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 268048
Genre : Inconnu
#66 : unknown
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 269041
Genre : Inconnu
Phénotype :
Abnormality of the face, Autism
#67 : unknown
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 271896
Genre : Inconnu
Phénotype :
Autism, Intellectual disability, Obesity, Ventricular septal defect, Scoliosis
#68 : unknown
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 276051
Genre : Inconnu
#69 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 292121
Genre : Inconnu
Phénotype :
Wide mouth, Prominent nasal bridge, Deeply set eye, Retinal hemorrhage, Global developmental delay, Plagiocephaly, Failure to thrive, Intrauterine growth retardation, Downturned corners of mouth, Generalized bone demineralization, Infantile axial hypotonia, Prominent forehead, Feeding difficulties, Round ear
#70 : unknown
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 324223
Genre : Inconnu
#71 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 391211
Genre : Inconnu
#72 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 409200
Genre : Inconnu
#73 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 324553
Genre : Inconnu
Phénotype :
Microcephaly, Seizure, Gastroesophageal reflux
#74 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 340106
Genre : Inconnu
Phénotype :
Velopharyngeal insufficiency, Strabismus, Intellectual disability, mild, Abnormal facial shape, Type II diabetes mellitus
#75 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 363853
Genre : Inconnu
Phénotype :
Tetralogy of Fallot, Talipes equinovarus
#76 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 366857
Genre : Inconnu
#77 : pathogenic
Localisation : 18,894,834 - 21,464,119
| Taille : 2,569,285 bases
Identifiant patient : 386027
Genre : Inconnu
#78 : unknown
Localisation : 18,895,186 - 21,463,936
| Taille : 2,568,750 bases
Identifiant patient : 2213
Genre : Inconnu
Phénotype :
Tetralogy of Fallot, Meningocele
#79 : pathogenic
Localisation : 18,895,226 - 21,462,353
| Taille : 2,567,127 bases
Identifiant patient : 301139
Genre : Inconnu
Phénotype :
Renal cyst, Cleft palate, Delayed speech and language development, Recurrent respiratory infections
#80 : pathogenic
Localisation : 18,646,834 - 21,661,435
| Taille : 3,014,601 bases
Identifiant patient : 288268
Genre : Inconnu
Phénotype :
Global developmental delay, Global developmental delay
#81 : pathogenic
Localisation : 18,646,834 - 21,661,435
| Taille : 3,014,601 bases
Identifiant patient : 331247
Genre : Inconnu
Phénotype :
Tetralogy of Fallot
#82 : pathogenic
Localisation : 18,646,834 - 21,661,435
| Taille : 3,014,601 bases
Identifiant patient : 331570
Genre : Inconnu
Phénotype :
Intellectual disability, Abnormal facial shape, Hypocalcemia
#83 : pathogenic
Localisation : 18,706,021 - 21,561,491
| Taille : 2,855,470 bases
Identifiant patient : 308404
Genre : Inconnu
#84 : unknown
Localisation : 18,765,108 - 21,540,317
| Taille : 2,775,209 bases
Identifiant patient : 282618
Genre : Inconnu
#85 : unknown
Localisation : 18,844,631 - 21,462,353
| Taille : 2,617,722 bases
Identifiant patient : 327635
Genre : Inconnu
#86 : pathogenic
Localisation : 18,844,631 - 21,462,353
| Taille : 2,617,722 bases
Identifiant patient : 360833
Genre : Inconnu
Phénotype :
Double outlet right ventricle, Double outlet right ventricle, Double outlet right ventricle
#87 : pathogenic
Localisation : 18,847,960 - 21,441,944
| Taille : 2,593,984 bases
Identifiant patient : 290047
Genre : Inconnu
Phénotype :
Psychosis, Intellectual disability, Global developmental delay, Short stature
#88 : pathogenic
Localisation : 18,875,829 - 21,441,944
| Taille : 2,566,115 bases
Identifiant patient : 289626
Genre : Inconnu
Phénotype :
Behavioral abnormality, Intellectual disability
#89 : pathogenic
Localisation : 18,875,829 - 21,441,944
| Taille : 2,566,115 bases
Identifiant patient : 289655
Genre : Inconnu
Phénotype :
Behavioral abnormality, Intellectual disability, Behavioral abnormality, Intellectual disability
#90 : pathogenic
Localisation : 18,875,829 - 21,441,944
| Taille : 2,566,115 bases
Identifiant patient : 331204
Genre : Inconnu
Phénotype :
Abnormal heart morphology
#91 : uncertain
Localisation : 18,876,604 - 21,441,944
| Taille : 2,565,340 bases
Identifiant patient : 290024
Genre : Inconnu
Phénotype :
Behavioral abnormality, Intellectual disability
#92 : pathogenic
Localisation : 18,876,604 - 21,441,944
| Taille : 2,565,340 bases
Identifiant patient : 331443
Genre : Inconnu
Phénotype :
Intellectual disability
#93 : pathogenic
Localisation : 18,890,161 - 21,441,944
| Taille : 2,551,783 bases
Identifiant patient : 288305
Genre : Inconnu
Phénotype :
Micrognathia, Inlet ventricular septal defect
#94 : pathogenic
Localisation : 18,890,161 - 21,441,944
| Taille : 2,551,783 bases
Identifiant patient : 289267
Genre : Inconnu
Phénotype :
Intellectual disability, Hyperreflexia, Infantile axial hypotonia, Intellectual disability, Hyperreflexia, Infantile axial hypotonia
#95 : pathogenic
Localisation : 18,890,161 - 21,441,944
| Taille : 2,551,783 bases
Identifiant patient : 290180
Genre : Inconnu
Phénotype :
Global developmental delay, Global developmental delay
#96 : pathogenic
Localisation : 18,890,161 - 21,441,944
| Taille : 2,551,783 bases
Identifiant patient : 331290
Genre : Inconnu
Phénotype :
Bifid uvula, Global developmental delay
#97 : pathogenic
Localisation : 18,890,161 - 21,441,944
| Taille : 2,551,783 bases
Identifiant patient : 331356
Genre : Inconnu
#98 : pathogenic
Localisation : 18,890,161 - 21,441,944
| Taille : 2,551,783 bases
Identifiant patient : 331525
Genre : Inconnu
Phénotype :
Micropenis, Intellectual disability
#99 : uncertain
Localisation : 18,890,161 - 21,440,515
| Taille : 2,550,354 bases
Identifiant patient : 289563
Genre : Inconnu
Phénotype :
Psychosis, Intellectual disability
#100 : unknown
Localisation : 18,890,210 - 21,445,924
| Taille : 2,555,714 bases
Identifiant patient : 270691
Genre : Inconnu
Phénotype :
Narrow mouth, Blepharophimosis, Proportionate short stature, Short stature
#101 : pathogenic
Localisation : 18,893,860 - 21,414,945
| Taille : 2,521,085 bases
Identifiant patient : 294062
Genre : Inconnu
Phénotype :
High palate, Microretrognathia, Myopia, Hallux valgus, Thoracic scoliosis
#102 : unknown
Localisation : 18,894,619 - 21,440,656
| Taille : 2,546,037 bases
Identifiant patient : 263249
Genre : Inconnu
Phénotype :
Abnormality of the face, Cognitive impairment
#103 : uncertain
Localisation : 18,894,819 - 21,440,515
| Taille : 2,545,696 bases
Identifiant patient : 332658
Genre : Inconnu
Phénotype :
Mild global developmental delay
#104 : unknown
Localisation : 18,894,819 - 21,440,515
| Taille : 2,545,696 bases
Identifiant patient : 301550
Genre : Inconnu
Phénotype :
Hypotelorism, Highly arched eyebrow, Rudimentary postaxial polydactyly of hands, Moderate global developmental delay
#105 : unknown
Localisation : 18,894,863 - 21,440,484
| Taille : 2,545,621 bases
Identifiant patient : 268981
Genre : Inconnu
#106 : unknown
Localisation : 18,894,863 - 21,440,484
| Taille : 2,545,621 bases
Identifiant patient : 271024
Genre : Inconnu
#107 : pathogenic
Localisation : 18,894,863 - 21,440,484
| Taille : 2,545,621 bases
Identifiant patient : 293121
Genre : Inconnu
#108 : pathogenic
Localisation : 18,894,863 - 21,440,484
| Taille : 2,545,621 bases
Identifiant patient : 294066
Genre : Inconnu
#109 : pathogenic
Localisation : 18,910,247 - 21,409,634
| Taille : 2,499,387 bases
Identifiant patient : 303619
Genre : Inconnu
Phénotype :
Microcephaly, Broad forehead, Global developmental delay, Rheumatoid arthritis, Ventricular septal defect, Abnormal facial shape, Clinodactyly of the 4th toe, Cerebral palsy
#110 : unknown
Localisation : 18,914,688 - 21,461,788
| Taille : 2,547,100 bases
Identifiant patient : 293851
Genre : Inconnu
#111 : unknown
Localisation : 18,919,741 - 21,440,655
| Taille : 2,520,914 bases
Identifiant patient : 250577
Genre : Inconnu
Phénotype :
Hypertelorism, Abnormality of the pinna, Telecanthus, Crumpled ear, Thin ear helix
#112 : unknown
Localisation : 18,919,741 - 21,440,655
| Taille : 2,520,914 bases
Identifiant patient : 262934
Genre : Inconnu
Phénotype :
Coarse facial features, Secondary amenorrhea, Intellectual disability, Abnormal heart morphology, Abnormality of dental morphology
#113 : unknown
Localisation : 18,919,881 - 21,440,574
| Taille : 2,520,693 bases
Identifiant patient : 275001
Genre : Inconnu
Phénotype :
Hypertrophic cardiomyopathy, Anal atresia, Hemivertebrae
#114 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 294233
Genre : Inconnu
Phénotype :
Hearing impairment, Cognitive impairment
#115 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 349735
Genre : Inconnu
Phénotype :
Hypocalcemia
#116 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 265254
Genre : Inconnu
#117 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 354940
Genre : Inconnu
#118 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 355003
Genre : Inconnu
Phénotype :
Intellectual disability, Intellectual disability
#119 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 359219
Genre : Inconnu
Phénotype :
Intellectual disability
#120 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 359236
Genre : Inconnu
Phénotype :
Velopharyngeal insufficiency, Laryngeal web
#121 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 366439
Genre : Inconnu
#122 : uncertain
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 366562
Genre : Inconnu
Phénotype :
Cardiomyopathy
#123 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 394776
Genre : Inconnu
#124 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 412399
Genre : Inconnu
#125 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 265518
Genre : Inconnu
#126 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 267014
Genre : Inconnu
#127 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 267667
Genre : Inconnu
#128 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 299976
Genre : Inconnu
Phénotype :
Cognitive impairment
#129 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 299978
Genre : Inconnu
Phénotype :
Delayed speech and language development, Global developmental delay, Arachnoid cyst
#130 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 300530
Genre : Inconnu
Phénotype :
Cognitive impairment
#131 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 300967
Genre : Inconnu
Phénotype :
Global developmental delay
#132 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 301143
Genre : Inconnu
Phénotype :
Intellectual disability, Intellectual disability
#133 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 304864
Genre : Inconnu
Phénotype :
Hypotonia, Nasal speech, Cognitive impairment, Hypotonia, Nasal speech, Cognitive impairment
#134 : uncertain
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 306933
Genre : Inconnu
#135 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 350694
Genre : Inconnu
#136 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 269935
Genre : Inconnu
#137 : uncertain
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 306934
Genre : Inconnu
#138 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 326501
Genre : Inconnu
Phénotype :
Intellectual disability, Abnormality of the voice, Recurrent upper respiratory tract infections
#139 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 326844
Genre : Inconnu
Phénotype :
Cleft palate, Hypothyroidism, Obesity, Cognitive impairment, Cleft palate, Hypothyroidism, Obesity, Cognitive impairment
#140 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 338676
Genre : Inconnu
Phénotype :
Single umbilical artery, Polyhydramnios, Ventricular septal defect, Single umbilical artery, Polyhydramnios, Ventricular septal defect
#141 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 339129
Genre : Inconnu
Phénotype :
Cleft palate, Neonatal hypotonia, Intrauterine growth retardation
#142 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 339283
Genre : Inconnu
Phénotype :
Specific learning disability
#143 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 339352
Genre : Inconnu
Phénotype :
Language impairment
#144 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 339849
Genre : Inconnu
Phénotype :
Global developmental delay, Neonatal hypotonia
#145 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 340051
Genre : Inconnu
Phénotype :
Hypertelorism, Growth delay
#146 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 340590
Genre : Inconnu
Phénotype :
Specific learning disability
#147 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 346743
Genre : Inconnu
Phénotype :
Velopharyngeal insufficiency, Neonatal hypotonia
#148 : uncertain
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 366621
Genre : Inconnu
#149 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 262079
Genre : Inconnu
#150 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 413831
Genre : Inconnu
#151 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 269991
Genre : Inconnu
#152 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 349448
Genre : Inconnu
Phénotype :
Intellectual disability
#153 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 275011
Genre : Inconnu
Phénotype :
Vesicoureteral reflux, Narrow mouth, High palate, Intellectual disability, Nasal speech, Talipes equinovarus
#154 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 275466
Genre : Inconnu
Phénotype :
Narrow mouth, Intellectual disability, mild, Microtia
#155 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 276092
Genre : Inconnu
Phénotype :
Microcephaly, Talipes equinovarus, Moderate global developmental delay, Rectal fistula
#156 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 280548
Genre : Inconnu
Phénotype :
Plagiocephaly, Intrauterine growth retardation, Mild global developmental delay
#157 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 280849
Genre : Inconnu
Phénotype :
Intellectual disability, moderate
#158 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 286709
Genre : Inconnu
Phénotype :
Pachygyria, Intellectual disability, moderate, Pachygyria, Intellectual disability, moderate
#159 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 270971
Genre : Inconnu
#160 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 273521
Genre : Inconnu
Phénotype :
Renal agenesis, Postaxial hand polydactyly
#161 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 263156
Genre : Inconnu
#162 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 263159
Genre : Inconnu
#163 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 287583
Genre : Inconnu
Phénotype :
Behavioral abnormality, Absent speech
#164 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 293479
Genre : Inconnu
Phénotype :
Delayed speech and language development
#165 : uncertain
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 306948
Genre : Inconnu
#166 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 306999
Genre : Inconnu
#167 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 307482
Genre : Inconnu
Phénotype :
Global developmental delay
#168 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 307490
Genre : Inconnu
Phénotype :
Hypocalcemia, Cognitive impairment
#169 : unknown
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 308537
Genre : Inconnu
#170 : uncertain
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 323732
Genre : Inconnu
Phénotype :
Atrial septal defect, HP:0011398
#171 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 367139
Genre : Inconnu
Phénotype :
Polyhydramnios, Abnormal facial shape, Hypocalcemia, Polyhydramnios, Abnormal facial shape, Hypocalcemia
#172 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 351597
Genre : Inconnu
#173 : pathogenic
Localisation : 18,919,941 - 21,440,514
| Taille : 2,520,573 bases
Identifiant patient : 389899
Genre : Inconnu
#174 : unknown
Localisation : 18,988,952 - 22,115,034
| Taille : 3,126,082 bases
Identifiant patient : 249602
Genre : Inconnu
Phénotype :
Hypomimic face, Wide nasal bridge, Delayed speech and language development, Joint laxity, Pes planus, 2\-3 toe syndactyly
#175 : pathogenic
Localisation : 19,023,803 - 21,540,347
| Taille : 2,516,544 bases
Identifiant patient : 331623
Genre : Inconnu
#176 : pathogenic
Localisation : 18,641,743 - 21,561,492
| Taille : 2,919,749 bases
Identifiant patient : 339412
Genre : Inconnu
#177 : pathogenic
Localisation : 18,706,021 - 21,540,317
| Taille : 2,834,296 bases
Identifiant patient : 314903
Genre : Inconnu
#178 : unknown
Localisation : 18,706,022 - 21,505,388
| Taille : 2,799,366 bases
Identifiant patient : 276235
Genre : Inconnu
Phénotype :
Abnormality of the face
#179 : unknown
Localisation : 18,706,022 - 21,505,387
| Taille : 2,799,365 bases
Identifiant patient : 258620
Genre : Inconnu
#180 : pathogenic
Localisation : 18,729,943 - 21,505,417
| Taille : 2,775,474 bases
Identifiant patient : 337998
Genre : Inconnu
Phénotype :
Omphalocele, Abnormal left ventricle morphology, Omphalocele, Abnormal left ventricle morphology
#181 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 1645
Genre : Inconnu
Phénotype :
Renal agenesis, Abnormality of the uterus, High palate, Long face, Abnormality of the nose, Low\-set ears, Bulbous nose, Nasal speech, Abnormality of the vasculature, Delayed skeletal maturation, Vertebral fusion, Proportionate short stature, Microtia
#182 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 248268
Genre : Inconnu
#183 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 248269
Genre : Inconnu
#184 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 250066
Genre : Inconnu
Phénotype :
Cleft palate, Arterial tortuosity, Cleft palate, Arterial tortuosity
#185 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 253239
Genre : Inconnu
#186 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 253461
Genre : Inconnu
Phénotype :
Intellectual disability, moderate, Intellectual disability, moderate
#187 : unknown
Localisation : 18,896,971 - 21,377,825
| Taille : 2,480,854 bases
Identifiant patient : 2184
Genre : Inconnu
Phénotype :
Macrocephaly, Abnormality of vision, Tapered finger, Intellectual disability, Truncal obesity
#188 : unknown
Localisation : 18,896,971 - 21,379,903
| Taille : 2,482,932 bases
Identifiant patient : 262821
Genre : Inconnu
#189 : unknown
Localisation : 18,896,971 - 21,367,944
| Taille : 2,470,973 bases
Identifiant patient : 271877
Genre : Inconnu
#190 : unknown
Localisation : 18,896,971 - 21,379,958
| Taille : 2,482,987 bases
Identifiant patient : 248600
Genre : Inconnu
Phénotype :
Intellectual disability
#191 : unknown
Localisation : 18,896,971 - 21,379,958
| Taille : 2,482,987 bases
Identifiant patient : 253475
Genre : Inconnu
#192 : unknown
Localisation : 18,896,971 - 21,382,953
| Taille : 2,485,982 bases
Identifiant patient : 258632
Genre : Inconnu
#193 : unknown
Localisation : 18,896,971 - 21,382,904
| Taille : 2,485,933 bases
Identifiant patient : 261259
Genre : Inconnu
#194 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 250154
Genre : Inconnu
#195 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 250177
Genre : Inconnu
#196 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 253466
Genre : Inconnu
#197 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 253467
Genre : Inconnu
#198 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 253469
Genre : Inconnu
#199 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 253473
Genre : Inconnu
#200 : unknown
Localisation : 18,896,971 - 21,368,002
| Taille : 2,471,031 bases
Identifiant patient : 253474
Genre : Inconnu
#201 : unknown
Localisation : 18,897,021 - 21,367,944
| Taille : 2,470,923 bases
Identifiant patient : 281926
Genre : Inconnu
Phénotype :
Intellectual disability, Abnormal facial shape
#202 : pathogenic
Localisation : 18,909,727 - 21,388,639
| Taille : 2,478,912 bases
Identifiant patient : 307423
Genre : Inconnu
Phénotype :
Short philtrum, Protruding ear, Short neck, Sparse and thin eyebrow, Impaired social interactions, Delayed speech and language development, Global developmental delay, High pitched voice, Pes planus, Low posterior hairline
#203 : unknown
Localisation : 18,919,941 - 21,379,958
| Taille : 2,460,017 bases
Identifiant patient : 282723
Genre : Inconnu
Phénotype :
Pierre\-Robin sequence, Ventricular septal defect
#204 : unknown
Localisation : 18,919,941 - 21,379,958
| Taille : 2,460,017 bases
Identifiant patient : 282761
Genre : Inconnu
Phénotype :
Abnormal facial shape, Polymicrogyria, Severe global developmental delay
#205 : pathogenic
Localisation : 18,919,941 - 21,379,958
| Taille : 2,460,017 bases
Identifiant patient : 287217
Genre : Inconnu
Phénotype :
Otitis media, Recurrent upper respiratory tract infections, Abnormality of the upper urinary tract
#206 : uncertain
Localisation : 18,919,941 - 21,379,958
| Taille : 2,460,017 bases
Identifiant patient : 366649
Genre : Inconnu
Phénotype :
Congenital malformation of the great arteries
#207 : pathogenic
Localisation : 18,967,370 - 21,462,353
| Taille : 2,494,983 bases
Identifiant patient : 362163
Genre : Inconnu
Phénotype :
Inguinal hernia, Atopic dermatitis, Ventricular septal defect, Atrial septal defect, Psychomotor retardation
#208 : unknown
Localisation : 18,628,047 - 21,540,317
| Taille : 2,912,270 bases
Identifiant patient : 266833
Genre : Inconnu
#209 : unknown
Localisation : 18,628,047 - 21,561,492
| Taille : 2,933,445 bases
Identifiant patient : 276670
Genre : Inconnu
#210 : unknown
Localisation : 18,661,698 - 21,540,347
| Taille : 2,878,649 bases
Identifiant patient : 337210
Genre : Inconnu
Phénotype :
Mild global developmental delay
#211 : unknown
Localisation : 18,661,747 - 21,540,317
| Taille : 2,878,570 bases
Identifiant patient : 267553
Genre : Inconnu
#212 : pathogenic
Localisation : 18,661,747 - 21,540,317
| Taille : 2,878,570 bases
Identifiant patient : 285197
Genre : Inconnu
#213 : unknown
Localisation : 18,661,747 - 21,505,387
| Taille : 2,843,640 bases
Identifiant patient : 256677
Genre : Inconnu
#214 : unknown
Localisation : 18,661,747 - 21,505,387
| Taille : 2,843,640 bases
Identifiant patient : 270862
Genre : Inconnu
#215 : pathogenic
Localisation : 19,023,823 - 21,464,119
| Taille : 2,440,296 bases
Identifiant patient : 295570
Genre : Inconnu
Phénotype :
Generalized hypotonia, Growth delay
#216 : unknown
Localisation : 19,023,823 - 21,440,514
| Taille : 2,416,691 bases
Identifiant patient : 366798
Genre : Inconnu
#217 : unknown
Localisation : 18,626,107 - 21,465,662
| Taille : 2,839,555 bases
Identifiant patient : 264979
Genre : Inconnu
#218 : pathogenic
Localisation : 18,644,789 - 21,465,662
| Taille : 2,820,873 bases
Identifiant patient : 282278
Genre : Inconnu
Phénotype :
Protruding ear, Bulbous nose, Anxiety, Global developmental delay, Abnormal facial shape, Hypocalcemic seizures, Hypocalcemia, Elevated circulating thyroid\-stimulating hormone concentration, Facial tics, Nuchal cord, Abnormal size of the palpebral fissures
#219 : unknown
Localisation : 18,651,613 - 21,464,119
| Taille : 2,812,506 bases
Identifiant patient : 260367
Genre : Inconnu
Phénotype :
Abnormality of the face, Psychosis, Intellectual disability
#220 : unknown
Localisation : 18,661,698 - 21,441,944
| Taille : 2,780,246 bases
Identifiant patient : 256278
Genre : Inconnu
Phénotype :
Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm, Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm, Hypertelorism, Intellectual disability, Obesity, Short foot, Short palm
#221 : pathogenic
Localisation : 18,661,747 - 21,440,484
| Taille : 2,778,737 bases
Identifiant patient : 285026
Genre : Inconnu
#222 : unknown
Localisation : 18,909,031 - 21,306,115
| Taille : 2,397,084 bases
Identifiant patient : 256300
Genre : Inconnu
Phénotype :
Micrognathia, Abnormality of the eye, Proptosis, Abnormality of prenatal development or birth, Aortic regurgitation, Atrioventricular canal defect
#223 : unknown
Localisation : 19,023,623 - 21,383,104
| Taille : 2,359,481 bases
Identifiant patient : 271757
Genre : Inconnu
Phénotype :
Narrow mouth, Long face, Mandibular prognathia, Hypomimic face, Abnormality of the pinna, Hyperactivity, Intellectual disability, Long foot, Proportionate short stature, Camptodactyly of finger
#224 : unknown
Localisation : 19,023,823 - 21,382,904
| Taille : 2,359,081 bases
Identifiant patient : 266363
Genre : Inconnu
#225 : pathogenic
Localisation : 18,653,404 - 21,414,945
| Taille : 2,761,541 bases
Identifiant patient : 291869
Genre : Inconnu
Phénotype :
Facial asymmetry, Micrognathia, Deeply set eye, Global developmental delay, Phimosis, Prominent metopic ridge, Deep palmar crease, HP:0007095
#226 : pathogenic
Localisation : 18,655,827 - 21,414,945
| Taille : 2,759,118 bases
Identifiant patient : 305652
Genre : Inconnu
Phénotype :
Slender nose, Hypermetropia, Aggressive behavior, Constipation, Recurrent upper respiratory tract infections, Severe expressive language delay, Moderate global developmental delay
#227 : pathogenic
Localisation : 18,628,146 - 21,407,681
| Taille : 2,779,535 bases
Identifiant patient : 333457
Genre : Inconnu
Phénotype :
Thoracic kyphosis, Mild global developmental delay
#228 : unknown
Localisation : 18,648,854 - 21,269,224
| Taille : 2,620,370 bases
Identifiant patient : 284001
Genre : Inconnu
#229 : unknown
Localisation : 18,894,863 - 21,081,289
| Taille : 2,186,426 bases
Identifiant patient : 279698
Genre : Inconnu
#230 : pathogenic
Localisation : 18,844,631 - 21,091,640
| Taille : 2,247,009 bases
Identifiant patient : 277641
Genre : Inconnu
Phénotype :
Hypertelorism, Delayed speech and language development, Global developmental delay, Hypocalcemia, Hypertelorism, Delayed speech and language development, Global developmental delay, Hypocalcemia
#231 : unknown
Localisation : 18,894,834 - 21,032,298
| Taille : 2,137,464 bases
Identifiant patient : 280510
Genre : Inconnu
Phénotype :
Global developmental delay
#232 : pathogenic
Localisation : 18,894,834 - 21,032,422
| Taille : 2,137,588 bases
Identifiant patient : 285772
Genre : Inconnu
#233 : pathogenic
Localisation : 18,919,941 - 20,992,700
| Taille : 2,072,759 bases
Identifiant patient : 299735
Genre : Inconnu
Phénotype :
Autistic behavior, Global developmental delay
#234 : pathogenic
Localisation : 18,919,941 - 20,992,700
| Taille : 2,072,759 bases
Identifiant patient : 338915
Genre : Inconnu
Phénotype :
Cardiomyopathy
#235 : unknown
Localisation : 18,953,011 - 20,992,700
| Taille : 2,039,689 bases
Identifiant patient : 280006
Genre : Inconnu
Phénotype :
Intellectual disability, moderate
#236 : pathogenic
Localisation : 18,150,178 - 21,445,183
| Taille : 3,295,005 bases
Identifiant patient : 415202
Genre : Inconnu
#237 : pathogenic
Localisation : 18,919,941 - 20,942,862
| Taille : 2,022,921 bases
Identifiant patient : 284134
Genre : Inconnu
Phénotype :
Intellectual disability, moderate
#238 : pathogenic
Localisation : 17,925,446 - 22,175,446
| Taille : 4,250,000 bases
Identifiant patient : 395916
Genre : Inconnu
Phénotype :
High palate, Dolichocephaly, Micrognathia, Macrotia, Bulbous nose, Wide nasal bridge, Prominent nose, Strabismus, Upslanted palpebral fissure, Delayed speech and language development, Abnormality of the parathyroid gland, Intellectual disability, Hypertonia, Craniosynostosis, Small for gestational age, Umbilical hernia, Nasal speech, Breech presentation, Frontal bossing, Incoordination, EEG abnormality, Cerebral calcification, Hypocalcemia, Hypoplastic philtrum, Abnormal retinal vascular morphology
#239 : unknown
Localisation : 18,648,854 - 21,058,888
| Taille : 2,410,034 bases
Identifiant patient : 285305
Genre : Inconnu
Phénotype :
Delayed speech and language development, Motor delay
#240 : pathogenic
Localisation : 18,661,723 - 21,025,713
| Taille : 2,363,990 bases
Identifiant patient : 328553
Genre : Inconnu
Phénotype :
Seizure, Seizure
#241 : pathogenic
Localisation : 18,661,723 - 21,025,713
| Taille : 2,363,990 bases
Identifiant patient : 366443
Genre : Inconnu
Phénotype :
Delayed speech and language development, Global developmental delay, Ventricular septal defect, Abnormal facial shape
#242 : unknown
Localisation : 18,796,971 - 20,959,043
| Taille : 2,162,072 bases
Identifiant patient : 253471
Genre : Inconnu
#243 : unknown
Localisation : 18,919,941 - 20,900,600
| Taille : 1,980,659 bases
Identifiant patient : 278388
Genre : Inconnu
Phénotype :
Truncus arteriosus, Congenital malformation of the great arteries
#244 : pathogenic
Localisation : 18,916,841 - 20,717,655
| Taille : 1,800,814 bases
Identifiant patient : 282277
Genre : Inconnu
Phénotype :
Micrognathia, Flared nostrils, Blepharophimosis, Intellectual disability, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Asthma, Thoracolumbar scoliosis, Short stature, Prominent nasal septum, Microtia, Thin eyebrow, Clubbing of fingers, Clubbing of toes, Micrognathia, Flared nostrils, Blepharophimosis, Intellectual disability, Failure to thrive, Intrauterine growth retardation, Abnormal facial shape, Asthma, Thoracolumbar scoliosis, Short stature, Prominent nasal septum, Microtia, Thin eyebrow, Clubbing of fingers, Clubbing of toes
#245 : unknown
Localisation : 18,519,185 - 23,222,718
| Taille : 4,703,533 bases
Identifiant patient : 249491
Genre : Inconnu
#246 : unknown
Localisation : 19,758,295 - 21,454,122
| Taille : 1,695,827 bases
Identifiant patient : 249413
Genre : Inconnu
Phénotype :
Delayed speech and language development, Hypothyroidism, Slender build, Atrial septal defect, Recurrent infections, Proportionate short stature, Microtia, Delayed speech and language development, Hypothyroidism, Slender build, Atrial septal defect, Recurrent infections, Proportionate short stature, Microtia
#247 : unknown
Localisation : 18,661,747 - 20,659,576
| Taille : 1,997,829 bases
Identifiant patient : 262415
Genre : Inconnu
5 Gène(s) dans la base SFARI
0 DGV-Gold chévauché(s) (>=50% seulement)
1 DGV chevauché(s) (>=50% seulement)
DGV #1
Localisation : 20,470,598 - 21,462,724
| Taille : 992,126 bases
10 Cas Patient (>=70% seulement)
18,178,955 - 21,151,129
Taille : 2,972,174 bases
1 Rapports
18,339,129 - 21,457,025
Taille : 3,117,896 bases
2 Rapports
18,339,129 - 21,444,545
Taille : 3,105,416 bases
2 Rapports
18,339,129 - 21,106,369
Taille : 2,767,240 bases
92 Rapports
18,339,129 - 21,098,259
Taille : 2,759,130 bases
1 Rapports
18,339,129 - 21,086,366
Taille : 2,747,237 bases
1 Rapports
18,339,129 - 21,086,226
Taille : 2,747,097 bases
37 Rapports
18,339,129 - 21,102,483
Taille : 2,763,354 bases
1 Rapports
18,339,129 - 21,207,226
Taille : 2,868,097 bases
1 Rapports
18,339,129 - 21,086,365
Taille : 2,747,236 bases
7 Rapports
1 Cas Contrôle (>=70% seulement)
nssv3587378
Localisation : 18339129 - 21108435 | Taille : 2769306 bases
22 Gène(s) dans la base PanelApp
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Infantile enterocolitis & monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Amber |
| Haute | White matter disorders and cerebral calcification - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green - NHS GMS |
| Haute | Ataxia and cerebellar anomalies - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- NHS GMS - Expert Review Green |
| Haute | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- NHS GMS - Expert Review Green - Expert list |
| Haute | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green |
| Haute | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green |
| Basse | Arthrogryposis | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531 |
- Expert Review Red - Literature |
| Haute | Cerebellar hypoplasia | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green - Literature |
| Moyenne | Childhood onset hereditary spastic paraplegia | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Amber |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
- Expert Review Green |
| Basse | Hereditary ataxia with onset in adulthood | BIALLELIC, autosomal or pseudoautosomal |
- Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 |
- NHS GMS - Wessex and West Midlands GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- HIRA-related neurodevelopmental disorder |
- Expert Review Red - DD-Gene2Phenotype |
| Moyenne | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Neurodevelopmental disorder |
- Expert Review Amber - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Autism |
- Expert Review Red - SFARI |
||
| Basse | Pain syndromes | Unknown |
- Congenital insensitivity to pain |
- Review - Literaure |
| Basse | Paroxysmal central nervous system disorders | Unknown |
- Congenital insensitivity to pain |
- Expert Review Red - NHS GMS - London North GLH - Wessex and West Midlands GLH |
| Basse | Hereditary neuropathy | BIALLELIC, autosomal or pseudoautosomal |
- NHS GMS - South West GLH - Expert Review Red - Expert Review |
|
| Basse | Hereditary neuropathy or pain disorder | BIALLELIC, autosomal or pseudoautosomal |
- South West GLH - Expert Review Red - Expert Review - NHS GMS - NHS GMS - South West GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Congenital adrenal hypoplasia | BIALLELIC, autosomal or pseudoautosomal |
- Familial glucocorticoid deficiency |
- Expert Review Red - Expert list |
| Basse | Dilated Cardiomyopathy and conduction defects | BIALLELIC, autosomal or pseudoautosomal |
- South West GLH - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal |
- Craniosynostosis (Wilkie) (from Ana Beleza) - Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) |
- NHS GMS - Expert Review Green - Expert list |
| Haute | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin Syndrome and Craniosynostosis |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Haute | Rare syndromic craniosynostosis or isolated multisuture synostosis | BIALLELIC, autosomal or pseudoautosomal |
- Coronal synostosis - Meier-Gorlin syndrome 7, 617063 |
- NHS GMS - Expert Review Green - Expert list |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin Syndrome and Craniosynostosis |
- DD-Gene2Phenotype - Expert Review Green |
| Moyenne | Clefting | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 - MGORS7 |
- Expert Review Amber - Radboud University Medical Center, Nijmegen - Expert list |
| Basse | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7 617063 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Meier-Gorlin syndrome 7, 617063 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Genomic imprinting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Literature |
|
| Basse | Familial Hirschsprung Disease | Unknown |
- HSCR - Hirschsprung s Disease risk |
- Expert Review Red - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Ketotic hypoglycaemia | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Green - Expert Review |
| Haute | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 |
- Expert Review Green - Expert Review |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Green - Other |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Green |
| Basse | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 |
- NHS GMS - Expert Review Red |
| Basse | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Wessex and West Midlands GLH - NHS GMS - Expert Review Green - Literature |
| Haute | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Green - Expert list |
| Basse | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Red - Expert Review |
| Moyenne | Cardiac arrhythmias - additional genes | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 |
- Expert Review Amber - Expert Review |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Acute rhabdomyolysis | BIALLELIC, autosomal or pseudoautosomal |
- Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 |
- NHS GMS - Expert Review Green |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- MAPK1-related Neurodevelopmental Disorder |
- DD-Gene2Phenotype - Expert Review Green |
| Moyenne | Growth failure in early childhood | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Noonan syndrome 13, OMIM:619087 |
- Expert Review Amber - Expert Review |
| Haute | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Global developmental delay - Intellectual disability - Behavioral abnormality - Growth delay - Abnormality of the face - Abnormality of the neck - Abnormality of the cardiovascular system - Abnormality of the skin |
- Expert Review Green - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Autism |
- Expert Review Red - SFARI |
||
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Hyperprolinemia, type I, OMIM - 239500 - hyperprolinemia type 1, MONDO:0009400 |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Hyperprolinemia, type I, OMIM - 239500 - hyperprolinemia type 1, MONDO:0009400 |
- Expert Review Green - London North GLH - NHS GMS |
| Moyenne | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal |
- Hyperprolinemia, type I, OMIM - 239500 - hyperprolinemia type 1, MONDO:0009400 |
- Expert Review Amber - Wessex and West Midlands GLH - NHS GMS - Expert Review |
| Moyenne | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Hyperprolinemia, type I, OMIM - 239500 - {Schizophrenia, susceptibility to, OMIM:4}, 600850 |
- NHS GMS - Expert Review Amber - Victorian Clinical Genetics Services - Radboud University Medical Center, Nijmegen |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | COVID-19 research | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability - DiGeorge syndrome 188400 - Di George syndrome - T-B+ SCID - Severe combined immunodeficiency (SCID) - Combined immunodeficiencies with associated or syndromic features |
- Expert Review Green - IUIS Classification February 2018 - SCID v1.6 - IUIS Classification December 2019 - GRID V2.0 - Victorian Clinical Genetics Services - ESID Registry 20171117 - IUIS Classification December 2019 - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 - SCID v1.6 |
| Moyenne | Familial hypoparathyroidism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- DiGeorge syndrome, OMIM:188400 - Conotruncal anomaly face syndrome, OMIM:217095 - Velocardiofacial syndrome, OMIM:192430 |
- Expert Review Amber - Other |
| Haute | Primary immunodeficiency or monogenic inflammatory bowel disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- DiGeorge syndrome, OMIM:188400 - Conotruncal anomaly face syndrome, OMIM:217095 - Velocardiofacial syndrome, OMIM:192430 |
- NHS GMS - Expert Review Green - Other - IUIS Classification December 2019 - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 - SCID v1.6 |
| Basse | Autism |
- Expert Review Red - SFARI |
||
| Basse | Familial non syndromic congenital heart disease |
- Tetralogy of Fallot |
- Expert Review Red - Radboud University Medical Center, Nijmegen |
|
| Haute | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- 22Q11.2 DELETION SYNDROME |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Haute | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- 22Q11.2 DELETION SYNDROME 188400 |
- DD-Gene2Phenotype - Expert Review Green |
| Basse | Monogenic hearing loss |
- Expert |
||
| Haute | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- DiGeorge syndrome, OMIM:188400 - Conotruncal anomaly face syndrome, OMIM:217095 - Velocardiofacial syndrome, OMIM:192430 |
- NHS GMS - Expert Review Green - Victorian Clinical Genetics Services |
| Moyenne | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- 22q11.2 deletion syndrome, Orphanet:567 (includes developmental delay) - DiGeorge syndrome, 188400 (includes mild to moderate learning difficulties) - Velocardiofacial syndrome, 192430 (includes learning disability and mental retardation) |
- Expert Review Amber - Victorian Clinical Genetics Services |
| Haute | Severe Paediatric Disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- DiGeorge syndrome, 188400 - Tetralogy of Fallot, 187500 - Conotruncal anomaly face syndrome, 217095 - Velocardiofacial syndrome, 192430 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- DiGeorge syndrome, 188400 - Tetralogy of Fallot, 187500 - Conotruncal anomaly face syndrome, 217095 - Velocardiofacial syndrome, 192430 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Adult solid tumours cancer susceptibility | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Early-onset multinodular goiter and schwannomatosis |
- Expert Review Red - Literature |
| Haute | Familial tumours of the nervous system | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Expert Review Green - NHS GMS |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Palmoplantar keratoderma and erythrokeratodermas | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 - CEDNIK syndrome - Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome |
- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen |
| Haute | Ichthyosis and erythrokeratoderma | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528 |
- Expert Review Green |
| Haute | Vici Syndrome and other autophagy disorders | BIALLELIC, autosomal or pseudoautosomal |
- CEDNIK - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
- Expert Review Green - Literature |
| Haute | Palmoplantar keratodermas | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
- London North GLH - NHS GMS - Expert Review Green |
| Haute | Malformations of cortical development | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 - CEDNIK syndrome, MONDO:0012290 |
- Expert Review Green - Expert list |
| Moyenne | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528 - CEDNIK syndrome, MONDO:0012290 |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- CEDNIK SYNDROME 609528 |
- Expert Review Green - DD-Gene2Phenotype |
| Haute | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 - CEDNIK SYNDROME |
- Expert Review Green - Radboud University Medical Center, Nijmegen |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Familial non syndromic congenital heart disease |
- Tetralogy of Fallot (Tomita-Mitchell (2012) Physiol Genomics 44,518) |
- Expert Review Red - Radboud University Medical Center, Nijmegen |
|
| Basse | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Bladder exstrophy plus |
- DD-Gene2Phenotype - Expert Review Red |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Arthrogryposis | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome 600920 |
- Expert Review Green - Radboud University Medical Center, Nijmegen - Literature |
| Haute | Skeletal dysplasia | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome 600920 |
- NHS GMS - Expert Review Green - Radboud University Medical Center, Nijmegen - Expert list - |
| Haute | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- VAN DEN ENDE-GUPTA SYNDROME |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Basse | Rare syndromic craniosynostosis or isolated multisuture synostosis | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome |
- NHS GMS - Expert Review Red - Expert Review |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- VAN DEN ENDE-GUPTA SYNDROME 600920 |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Clefting | BIALLELIC, autosomal or pseudoautosomal |
- VAN DEN ENDE-GUPTA SYNDROME - VDEGS |
- Expert Review Green |
| Basse | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome, 600920 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Van den Ende-Gupta syndrome, 600920 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Inherited bleeding disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Heparin cofactor 2 deficiency - Thrombophilia due to heparin cofactor II deficiency,612356 - Thrombophilia due to heparin cofactor II deficiency 612356 |
- Eligibility statement prior genetic testing - Radboud University Medical Center, Nijmegen - Other - Expert Review Green - BRIDGE Study Tier 1 Gene |
| Haute | Thrombophilia with a likely monogenic cause | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Thrombophilia due to heparin cofactor II deficiency, OMIM:612356 |
- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Familial Tumours Syndromes of the central & peripheral Nervous system | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- {Schwannomatosis-2, susceptibility to}, 615670 - (originally on Familial schwannomatosis gene panel) - familial schwannomatosis |
- Expert Review Green - UKGTN - Radboud University Medical Center, Nijmegen |
| Haute | Fetal hydrops | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10, 616564 |
- Eligibility statement prior genetic testing - Expert Review Green |
| Moyenne | Childhood solid tumours | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10 616564 - Schwannomatosis-2, susceptibility to 615670 |
- Expert Review Amber - NHS GMS |
| Haute | Pigmentary skin disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- NOONAN SYNDROME 10 - NS2 - NS10, NOONAN SYNDROME 2 - Schwannomatosis-2, susceptibility to 615670 - Noonan syndrome 10 616564 |
- Expert Review - Expert Review Green |
| Basse | Hypertrophic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- RASopathy-associated cardiomyopathy |
- Expert Review Red - Literature |
| Basse | Autism |
- Expert Review Red - SFARI |
||
| Moyenne | Adult solid tumours cancer susceptibility | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10 616564 - Schwannomatosis-2, susceptibility to 615670 |
- Expert Review Amber - NHS GMS |
| Haute | Fetal anomalies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Fetal hydrops - Noonan syndrome 10, 616564 |
- Expert Review Green |
| Haute | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome |
- Expert Review Green - DD-Gene2Phenotype |
| Haute | Growth failure in early childhood | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10 - increased nuchal translucency - Prenatal hydrops - cardiac findings |
- Expert Review Green |
| Haute | Intellectual disability - microarray and sequencing | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10 - Prenatal hydrops - increased nuchal translucency - cardiac findings |
- Expert Review Green - Other |
| Haute | RASopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Noonan syndrome 10 616564 - Schwannomatosis-2, susceptibility to 615670 - Noonan syndrome 2, 605275 |
- Expert Review Green - Expert Review |
| Haute | Primary lymphoedema | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Schwannomatosis-2, susceptibility to 615670 - Noonan syndrome 10 616564 |
- Expert Review Green - Expert Review |
| Haute | Paediatric or syndromic cardiomyopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Schwannomatosis-2, susceptibility to 615670 - Noonan syndrome 10 616564 |
- NHS GMS - Expert List - Expert Review Green |
| Haute | Familial tumours of the nervous system | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- NHS GMS - Expert Review Green |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | White matter disorders and cerebral calcification - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Global Cerebral Hypomyelination |
- Expert Review Red |
| Basse | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Global Cerebral Hypomyelination |
- Illumina TruGenome Clinical Sequencing Services |
| Haute | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal |
- Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197 |
- Expert Review Green - NHS GMS - Wessex and West Midlands GLH |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) - Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 - Disorders of mitochondrial protein transport - Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) |
- Expert Review Green - London North GLH - NHS GMS - Expert Review Green - Victorian Clinical Genetics Services |
| Haute | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 - Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 |
- NHS GMS - Expert Review Green |
| Moyenne | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182 |
- Expert Review Amber |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- SLC25A1-related Neurometabolic Disorder |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal |
- Combined D-2- and L-2-hydroxyglutaric aciduria |
- Wessex and West Midlands GLH - NHS GMS - Expert Review Green - Expert Review |
| Haute | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Combined D-2- and L-2-hydroxyglutaric aciduria 615182 |
- Expert Review Green - Expert Review |
| Haute | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Disorders of mitochondrial protein transport - Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 |
- Expert Review Green - Victorian Clinical Genetics Services - Radboud University Medical Center, Nijmegen - Expert list |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Likely inborn error of metabolism - targeted testing not possible | Unknown |
- No OMIM phenotype |
- Expert Review Red |
| Basse | Mitochondrial disorders |
- No OMIM phenotype |
- Radboud University Medical Center, Nijmegen |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | White matter disorders and cerebral calcification - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Brain calcifications |
- Expert Review Green - NHS GMS - Literature |
| Basse | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- CLDN5-related neurodevelopmental disorder |
- Expert Review Red - DD-Gene2Phenotype |
| Haute | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- epilepsy, MONDO:0005027 |
- Expert Review Green - NHS GMS - Literature |
| Haute | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- intellectual disability, MONDO:0001071 |
- Expert Review Green - NHS GMS - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Inherited bleeding disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Bernard-Soulier syndrome, type B, OMIM:231200 - Giant platelet disorder, isolated, OMIM:231200 - Macrothrombocytopenia |
- Expert Review Green - BRIDGE Study Tier 1 Gene - Other |
| Haute | Bleeding and platelet disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Bernard-Soulier syndrome, type B, OMIM:231200 - Giant platelet disorder, isolated, OMIM:231200 - Macrothrombocytopenia |
- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH |
| Moyenne | Cytopenia - NOT Fanconi anaemia | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Bernard-Soulier syndrome, type B, OMIM:231200 - Giant platelet disorder, isolated, OMIM:231200 - Macrothrombocytopenia |
- Expert Review Amber - Expert review Amber - NHS GMS - North West GLH - London South GLH - Yorkshire and North East GLH - Wessex and West Midlands GLH |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Giant platelet disorder, isolated, 231200 - Bernard-Soulier syndrome, type B, 231200 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Giant platelet disorder, isolated, 231200 - Bernard-Soulier syndrome, type B, 231200 |
- Next Generation Children Project - Expert Review Green - Expert list |