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