Length (hg19) : 11,900,000 bases - Length (hg38) : 11,911,321 bases
CNV-Hub AChro-Puce
Likely pathogenic
AChro-Puce Criteria taken into account 1
4 Major
4 Minor
4 Minor
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 |
|---|---|---|---|
| SH2B1 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | Orphanet | Autosomal dominant |
| KIF22 | Spondyloepimetaphyseal dysplasia with multiple dislocations | Orphanet | Autosomal dominant |
| TBX6 | Autosomal dominant spondylocostal dysostosis | Orphanet | Autosomal dominant |
| SRCAP | Floating-Harbor syndrome | Orphanet | Autosomal dominant |
| STX1B | Generalized epilepsy with febrile seizures-plus | Orphanet | Autosomal dominant |
| ATP2A1 | Brody myopathy | Orphanet | Autosomal dominant, Autosomal recessive |
| SLC5A2 | Familial renal glucosuria | Orphanet | Autosomal dominant, Autosomal recessive |
| CD19 | Common variable immunodeficiency | Orphanet | Autosomal dominant, Autosomal recessive, Not applicable |
| KAT8 | Non-specific syndromic intellectual disability | Orphanet | Autosomal dominant, Autosomal recessive, X-linked recessive |
| PRRT2 | Paroxysmal exertion-induced dyskinesia | Orphanet | Autosomal dominant, Not applicable |
| ARMC5 | Cushing syndrome due to macronodular adrenal hyperplasia | Orphanet | Autosomal dominant, Not applicable |
| IL21R | Combined immunodeficiency due to IL21R deficiency | Orphanet | Autosomal recessive |
| KATNIP | Joubert syndrome | Orphanet | Autosomal recessive |
| CLN3 | CLN3 disease | Orphanet | Autosomal recessive |
| TUFM | Combined oxidative phosphorylation defect type 4 | Orphanet | Autosomal recessive |
| ALDOA | Glycogen storage disease due to aldolase A deficiency | Orphanet | Autosomal recessive |
| CORO1A | Severe combined immunodeficiency due to CORO1A deficiency | Orphanet | Autosomal recessive |
| HSD3B7 | Congenital bile acid synthesis defect type 1 | Orphanet | Autosomal recessive |
| VKORC1 | Hereditary combined deficiency of vitamin K-dependent clotting factors | Orphanet | Autosomal recessive |
| BCKDK | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | Orphanet | Autosomal recessive |
| COX6A2 | Isolated cytochrome C oxidase deficiency | Orphanet | Autosomal recessive, Mitochondrial inheritance |
| PHKG2 | Glycogen storage disease due to liver phosphorylase kinase deficiency | Orphanet | Autosomal recessive, X-linked recessive |
| FUS | Myxoid/round cell liposarcoma | Orphanet | Not applicable |
| ITGAM | Systemic lupus erythematosus | Orphanet | Not applicable |
| LAT | Severe combined immunodeficiency due to LAT deficiency | Orphanet | |
| MYL11 | mylpf arthrogryposis (monoallelic) | DDG2P | |
| SETD1A | intellectual disability | DDG2P |
ClinGen
0 benign CNV0 likely benign CNV
0 uncertain CNV
0 likely pathogenic CNV
0 pathogenic CNV
70% Overlaps
Decipher
0 benign CNV0 unknown CNV
0 uncertain CNV
0 pathogenic CNV
70% Overlaps
DGV-Gold
0
80% Overlaps
0
50% Overlaps
DGV
0
80% Overlaps
0
50% Overlaps
Coe & Al study 6
0
Patient cases
70% Overlaps
0
Controls
70% Overlaps
Genes with pHaplo > 0.55 7
15
TNRC6A ARHGAP17 KDM8 IL21R GTF3C1 XPO6 ATXN2L MAZ TAOK2 SRCAP ZNF629 FBXL19 SETD1A FUS
Genes with pTriplo > 0.68 7
36
TNRC6A ARHGAP17 GTF3C1 XPO6 ATXN2L TUFM SH2B1 SPNS1 SLX1B MAZ SEZ6L2 TAOK2 PPP4C MAPK3 CORO1A TBC1D10B SEPHS2 ZNF768 ZNF689 PRR14 FBRS SRCAP PHKG2 RNF40 ZNF629 FBXL19 SETD1A STX1B ZNF668 ZNF646 VKORC1 KAT8 FUS ARMC5
Genes in OMIM
107
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
0 Microdeletion and microduplication syndromes from litterature (>= 70% only)
107 OMIM Gene overlap(s)
Download genes as .csv
Location : 25,703,280 - 26,149,006
Database :
DecipherGenomics OMIM:604059 GTEx Portal Human Protein Atlas Ensembl
Location : 27,798,849 - 28,075,035
Database :
DecipherGenomics OMIM:617161 GTEx Portal Human Protein Atlas Ensembl
Location : 27,561,454 - 27,791,665
Disease : Joubert syndrome
Source : Orphanet
Database :
DecipherGenomics OMIM:616650 Orphanet:475 HGNC:29068 PMID:26714646 GTEx Portal Human Protein Atlas Ensembl
Location : 24,621,530 - 24,838,953
Database :
DecipherGenomics OMIM:610739 GTEx Portal Human Protein Atlas Ensembl
Location : 28,109,297 - 28,223,286
Database :
DecipherGenomics OMIM:608411 GTEx Portal Human Protein Atlas Ensembl
Location : 24,930,710 - 25,026,987
Database :
DecipherGenomics OMIM:608293 GTEx Portal Human Protein Atlas Ensembl
Location : 27,470,876 - 27,561,234
Database :
DecipherGenomics OMIM:603246 GTEx Portal Human Protein Atlas Ensembl
Location : 31,271,288 - 31,344,213
Disease : Systemic lupus erythematosus
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:120980 Orphanet:536 HGNC:6149 PMID:19286673 PMID:23917156 PMID:23943494 GTEx Portal Human Protein Atlas Ensembl
Location : 25,123,052 - 25,189,552
Database :
DecipherGenomics OMIM:610286 GTEx Portal Human Protein Atlas Ensembl
Location : 24,857,162 - 24,922,949
Database :
DecipherGenomics OMIM:610238 GTEx Portal Human Protein Atlas Ensembl
Location : 28,270,567 - 28,335,170
Database :
DecipherGenomics OMIM:620212 GTEx Portal Human Protein Atlas Ensembl
Location : 30,844,947 - 30,905,623
Database :
DecipherGenomics OMIM:605847 GTEx Portal Human Protein Atlas Ensembl
Location : 27,324,989 - 27,376,099
Database :
DecipherGenomics PanelApp OMIM:147781 GTEx Portal Human Protein Atlas Ensembl
Location : 30,483,979 - 30,534,888
Database :
DecipherGenomics PanelApp OMIM:153370 GTEx Portal Human Protein Atlas Ensembl
Location : 27,413,495 - 27,463,363
Disease : Combined immunodeficiency due to IL21R deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:605383 Orphanet:357329 HGNC:6006 PMID:23440042 GTEx Portal Human Protein Atlas Ensembl
Location : 28,699,879 - 28,747,048
Database :
DecipherGenomics OMIM:603916 GTEx Portal Human Protein Atlas Ensembl
Location : 27,236,315 - 27,280,093
Database :
DecipherGenomics OMIM:617263 GTEx Portal Human Protein Atlas Ensembl
Location : 31,885,128 - 31,928,678
Database :
DecipherGenomics OMIM:604752 GTEx Portal Human Protein Atlas Ensembl
Location : 30,709,530 - 30,752,730
Disease : Floating-Harbor syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:611421 Orphanet:2044 HGNC:16974 PMID:22965468 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 28,565,236 - 28,603,111
Database :
DecipherGenomics OMIM:613374 GTEx Portal Human Protein Atlas Ensembl
Location : 29,674,600 - 29,710,020
Database :
DecipherGenomics OMIM:606248 GTEx Portal Human Protein Atlas Ensembl
Location : 31,404,656 - 31,437,826
Database :
DecipherGenomics OMIM:602453 GTEx Portal Human Protein Atlas Ensembl
Location : 28,915,742 - 28,947,847
Database :
DecipherGenomics OMIM:611869 GTEx Portal Human Protein Atlas Ensembl
Location : 30,035,748 - 30,064,299
Database :
DecipherGenomics OMIM:615175 GTEx Portal Human Protein Atlas Ensembl
Location : 29,882,480 - 29,910,871
Database :
DecipherGenomics PanelApp OMIM:616667 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 31,366,455 - 31,394,320
Database :
DecipherGenomics OMIM:151510 GTEx Portal Human Protein Atlas Ensembl
Location : 29,831,715 - 29,859,360
Database :
DecipherGenomics OMIM:605088 GTEx Portal Human Protein Atlas Ensembl
Location : 28,857,921 - 28,885,533
Disease : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:608937 Orphanet:329249 HGNC:30417 PMID:23160192 GTEx Portal Human Protein Atlas Ensembl
Location : 30,969,075 - 30,995,985
Disease : intellectual disability
Source : DDG2P
Database :
DecipherGenomics PanelApp OMIM:611052 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 28,889,726 - 28,915,787
Disease : Brody myopathy
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:108730 Orphanet:53347 HGNC:811 PMID:10914677 GTEx Portal Human Protein Atlas Ensembl
Location : 30,934,376 - 30,960,104
Database :
DecipherGenomics OMIM:609085 GTEx Portal Human Protein Atlas Ensembl
Location : 28,485,432 - 28,506,896
Disease : CLN3 disease
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:607042 Orphanet:228346 HGNC:2074 PMID:21990111 GTEx Portal Human Protein Atlas Ensembl
Location : 30,613,879 - 30,635,333
Database :
DecipherGenomics OMIM:618033 GTEx Portal Human Protein Atlas Ensembl
Location : 31,000,577 - 31,021,959
Disease : Generalized epilepsy with febrile seizures-plus
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:601485 Orphanet:36387 HGNC:18539 PMID:25362483 GTEx Portal Human Protein Atlas Ensembl
Location : 29,916,333 - 29,937,557
Database :
DecipherGenomics PanelApp OMIM:608947 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 29,985,189 - 30,003,582
Database :
DecipherGenomics PanelApp OMIM:613199 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 27,214,829 - 27,233,089
Database :
DecipherGenomics OMIM:611917 GTEx Portal Human Protein Atlas Ensembl
Location : 30,389,456 - 30,407,312
Database :
DecipherGenomics OMIM:612897 GTEx Portal Human Protein Atlas Ensembl
Location : 30,016,835 - 30,034,591
Database :
DecipherGenomics OMIM:604567 GTEx Portal Human Protein Atlas Ensembl
Location : 31,225,412 - 31,242,858
Database :
DecipherGenomics OMIM:613288 GTEx Portal Human Protein Atlas Ensembl
Location : 31,125,810 - 31,142,714
Disease : Non-specific syndromic intellectual disability
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:609912 Orphanet:528084 HGNC:17933 PMID:31794431 GTEx Portal Human Protein Atlas Ensembl
Location : 28,962,128 - 28,978,413
Database :
DecipherGenomics OMIM:614525 GTEx Portal Human Protein Atlas Ensembl
Location : 29,802,048 - 29,816,706
Disease : Spondyloepimetaphyseal dysplasia with multiple dislocations
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:603213 Orphanet:93360 HGNC:6391 PMID:22152677 GTEx Portal Human Protein Atlas Ensembl
Location : 30,773,066 - 30,787,628
Database :
DecipherGenomics OMIM:607700 GTEx Portal Human Protein Atlas Ensembl
Location : 28,834,320 - 28,848,558
Database :
DecipherGenomics PanelApp OMIM:607931 GTEx Portal Human Protein Atlas Ensembl
Location : 31,072,164 - 31,085,561
Database :
DecipherGenomics PanelApp OMIM:617103 GTEx Portal Human Protein Atlas Ensembl
Location : 30,368,423 - 30,381,815
Database :
DecipherGenomics OMIM:613620 GTEx Portal Human Protein Atlas Ensembl
Location : 25,227,052 - 25,240,253
Database :
DecipherGenomics OMIM:603750 GTEx Portal Human Protein Atlas Ensembl
Location : 30,759,614 - 30,772,497
Disease : Glycogen storage disease due to liver phosphorylase kinase deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:172471 Orphanet:264580 HGNC:8931 GTEx Portal Human Protein Atlas Ensembl
Location : 28,510,683 - 28,523,372
Database :
DecipherGenomics OMIM:608273 GTEx Portal Human Protein Atlas Ensembl
Location : 30,669,752 - 30,682,131
Database :
DecipherGenomics PanelApp OMIM:608601 GTEx Portal Human Protein Atlas Ensembl
Location : 31,191,459 - 31,202,926
Disease : Myxoid/round cell liposarcoma
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:137070 Orphanet:99967 HGNC:4010 GTEx Portal Human Protein Atlas Ensembl
Location : 31,150,247 - 31,161,404
Database :
DecipherGenomics OMIM:610560 GTEx Portal Human Protein Atlas Ensembl
Location : 28,985,542 - 28,995,869
Database :
DecipherGenomics OMIM:612583 GTEx Portal Human Protein Atlas Ensembl
Location : 31,044,210 - 31,054,296
Database :
DecipherGenomics PanelApp OMIM:186591 GTEx Portal Human Protein Atlas Ensembl
Location : 31,085,743 - 31,095,517
Database :
DecipherGenomics OMIM:619299 GTEx Portal Human Protein Atlas Ensembl
Location : 30,125,426 - 30,134,827
Database :
DecipherGenomics PanelApp OMIM:601795 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 30,087,299 - 30,096,697
Database :
DecipherGenomics OMIM:602035 GTEx Portal Human Protein Atlas Ensembl
Location : 31,469,401 - 31,478,487
Disease : Cushing syndrome due to macronodular adrenal hyperplasia
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:615549 Orphanet:189427 HGNC:25781 PMID:24283224 GTEx Portal Human Protein Atlas Ensembl
Location : 28,616,517 - 28,625,600
Database :
DecipherGenomics OMIM:171150 GTEx Portal Human Protein Atlas Ensembl
Location : 30,789,777 - 30,798,526
Database :
DecipherGenomics OMIM:619587 GTEx Portal Human Protein Atlas Ensembl
Location : 30,116,131 - 30,124,858
Database :
DecipherGenomics OMIM:616318 GTEx Portal Human Protein Atlas Ensembl
Location : 29,674,300 - 29,682,197
Database :
DecipherGenomics OMIM:182160 GTEx Portal Human Protein Atlas Ensembl
Location : 31,494,323 - 31,502,181
Disease : Familial renal glucosuria
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:182381 Orphanet:69076 HGNC:11037 PMID:14614622 PMID:21165652 PMID:24255686 GTEx Portal Human Protein Atlas Ensembl
Location : 30,960,389 - 30,967,782
Database :
DecipherGenomics OMIM:610930 GTEx Portal Human Protein Atlas Ensembl
Location : 28,943,286 - 28,950,663
Disease : Common variable immunodeficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:107265 Orphanet:1572 HGNC:1633 GTEx Portal Human Protein Atlas Ensembl
Location : 30,382,255 - 30,389,312
Disease : mylpf arthrogryposis (monoallelic)
Source : DDG2P
Database :
DecipherGenomics OMIM:617378 GTEx Portal Human Protein Atlas Ensembl
Location : 30,907,935 - 30,914,868
Database :
DecipherGenomics PanelApp OMIM:600435 GTEx Portal Human Protein Atlas Ensembl
Location : 31,117,428 - 31,124,112
Disease : Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:614901 Orphanet:308410 HGNC:16902 PMID:22956686 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 30,434,936 - 30,441,351
Database :
DecipherGenomics OMIM:615840 GTEx Portal Human Protein Atlas Ensembl
Location : 31,482,906 - 31,489,281
Database :
DecipherGenomics OMIM:602353 GTEx Portal Human Protein Atlas Ensembl
Location : 29,827,473 - 29,833,810
Database :
DecipherGenomics OMIM:612033 GTEx Portal Human Protein Atlas Ensembl
Location : 28,544,029 - 28,550,329
Database :
DecipherGenomics OMIM:614812 GTEx Portal Human Protein Atlas Ensembl
Location : 30,075,485 - 30,081,778
Disease : Glycogen storage disease due to aldolase A deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:103850 Orphanet:57 HGNC:414 GTEx Portal Human Protein Atlas Ensembl
Location : 30,194,148 - 30,200,397
Disease : Severe combined immunodeficiency due to CORO1A deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:605000 Orphanet:228003 HGNC:2252 PMID:23522482 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 31,094,758 - 31,100,949
Database :
DecipherGenomics OMIM:610561 GTEx Portal Human Protein Atlas Ensembl
Location : 30,097,114 - 30,103,245
Disease : Autosomal dominant spondylocostal dysostosis
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602427 Orphanet:1797 HGNC:11605 PMID:23335591 GTEx Portal Human Protein Atlas Ensembl
Location : 28,996,147 - 29,002,105
Disease : Severe combined immunodeficiency due to LAT deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602354 Orphanet:504523 HGNC:18874 PMID:27522155 GTEx Portal Human Protein Atlas Ensembl
Location : 30,662,038 - 30,667,734
Database :
DecipherGenomics OMIM:617423 GTEx Portal Human Protein Atlas Ensembl
Location : 31,102,163 - 31,107,301
Disease : Hereditary combined deficiency of vitamin K-dependent clotting factors
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:608547 Orphanet:98434 HGNC:23663 PMID:14765194 GTEx Portal Human Protein Atlas Ensembl
Location : 28,603,264 - 28,608,371
Database :
DecipherGenomics OMIM:601292 GTEx Portal Human Protein Atlas Ensembl
Location : 30,210,549 - 30,215,631
Database :
DecipherGenomics OMIM:600641 GTEx Portal Human Protein Atlas Ensembl
Location : 29,817,427 - 29,822,485
Database :
DecipherGenomics OMIM:600999 GTEx Portal Human Protein Atlas Ensembl
Location : 29,869,678 - 29,874,735
Database :
DecipherGenomics OMIM:605893 GTEx Portal Human Protein Atlas Ensembl
Location : 29,471,234 - 29,476,287
Database :
DecipherGenomics OMIM:615819 GTEx Portal Human Protein Atlas Ensembl
Location : 30,768,744 - 30,773,542
Database :
DecipherGenomics OMIM:618318 GTEx Portal Human Protein Atlas Ensembl
Location : 29,789,577 - 29,794,294
Database :
DecipherGenomics OMIM:617311 GTEx Portal Human Protein Atlas Ensembl
Location : 30,565,085 - 30,569,695
Database :
DecipherGenomics OMIM:619524 GTEx Portal Human Protein Atlas Ensembl
Location : 30,103,635 - 30,108,236
Database :
DecipherGenomics OMIM:609724 GTEx Portal Human Protein Atlas Ensembl
Location : 30,034,519 - 30,039,057
Database :
DecipherGenomics OMIM:618911 GTEx Portal Human Protein Atlas Ensembl
Location : 30,362,094 - 30,366,629
Database :
DecipherGenomics OMIM:604470 GTEx Portal Human Protein Atlas Ensembl
Location : 29,822,703 - 29,827,213
Disease : Paroxysmal exertion-induced dyskinesia
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:614386 Orphanet:98811 HGNC:30500 PMID:22902309 PMID:22209761 PMID:23398397 GTEx Portal Human Protein Atlas Ensembl
Location : 28,505,964 - 28,510,285
Database :
DecipherGenomics OMIM:605220 GTEx Portal Human Protein Atlas Ensembl
Location : 31,142,754 - 31,147,048
Database :
DecipherGenomics OMIM:600823 GTEx Portal Human Protein Atlas Ensembl
Location : 30,996,528 - 31,000,468
Disease : Congenital bile acid synthesis defect type 1
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:607764 Orphanet:79301 HGNC:18324 PMID:12679481 GTEx Portal Human Protein Atlas Ensembl
Location : 28,853,732 - 28,857,669
Disease : Combined oxidative phosphorylation defect type 4
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602389 Orphanet:254925 HGNC:12420 PMID:17160893 GTEx Portal Human Protein Atlas Ensembl
Location : 30,003,651 - 30,007,395
Database :
DecipherGenomics OMIM:603365 GTEx Portal Human Protein Atlas Ensembl
Location : 29,465,854 - 29,469,540
Database :
DecipherGenomics OMIM:615823 GTEx Portal Human Protein Atlas Ensembl
Location : 30,205,196 - 30,208,882
Database :
DecipherGenomics OMIM:615822 GTEx Portal Human Protein Atlas Ensembl
Location : 30,535,325 - 30,538,142
Database :
DecipherGenomics OMIM:618032 GTEx Portal Human Protein Atlas Ensembl
Location : 32,684,849 - 32,687,486
Database :
DecipherGenomics OMIM:617482 GTEx Portal Human Protein Atlas Ensembl
Location : 30,454,952 - 30,457,195
Database :
DecipherGenomics OMIM:606218 GTEx Portal Human Protein Atlas Ensembl
Location : 31,212,807 - 31,214,771
Database :
DecipherGenomics PanelApp OMIM:606838 GTEx Portal Human Protein Atlas Ensembl
Location : 31,227,283 - 31,228,456
Database :
DecipherGenomics OMIM:615700 GTEx Portal Human Protein Atlas Ensembl
Location : 31,539,221 - 31,540,124
Database :
DecipherGenomics OMIM:605821 GTEx Portal Human Protein Atlas Ensembl
Location : 29,464,911 - 29,465,672
Database :
DecipherGenomics PanelApp OMIM:613182 GTEx Portal Human Protein Atlas Ensembl
Location : 31,439,052 - 31,439,681
Disease : Isolated cytochrome C oxidase deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602009 Orphanet:254905 HGNC:2279 PMID:31155743 GTEx Portal Human Protein Atlas Ensembl
501 Non-OMIM Gene overlap(s)
ENSG00000285882
Size : 254,360 bases
Location : 25,799,308 - 26,053,668
ENSG00000284685
Size : 191,925 bases
Location : 29,150,700 - 29,342,625
ENSG00000288632
Size : 170,800 bases
Location : 29,454,238 - 29,625,038
ENSG00000291188
Size : 103,143 bases
Location : 29,126,038 - 29,229,181
ENSG00000231876
Size : 38,751 bases
Location : 26,313,385 - 26,352,136
ENSG00000286712
Size : 60,594 bases
Location : 26,558,123 - 26,618,717
ENSG00000261329
Size : 39,866 bases
Location : 27,690,261 - 27,730,127
ENSG00000283662
Size : 33,487 bases
Location : 28,270,007 - 28,303,494
ENSG00000261832
Size : 35,727 bases
Location : 28,467,692 - 28,503,419
ENSG00000289754
Size : 83,093 bases
Location : 28,548,361 - 28,631,454
ENSG00000288656
Size : 31,308 bases
Location : 28,603,376 - 28,634,684
ENSG00000261419
Size : 81,085 bases
Location : 28,671,017 - 28,752,102
ENSG00000260908
Size : 53,713 bases
Location : 29,065,053 - 29,118,766
RRN3P2
Size : 41,742 bases
Location : 29,086,297 - 29,128,039
ENSG00000260517
Size : 77,045 bases
Location : 29,150,982 - 29,228,027
ENSG00000198106
Size : 80,890 bases
Location : 29,302,541 - 29,383,431
SMG1P2
Size : 67,398 bases
Location : 29,538,889 - 29,606,287
TMEM219
Size : 32,165 bases
Location : 29,952,206 - 29,984,371
NPIPB13
Size : 32,371 bases
Location : 30,234,218 - 30,266,589
SMG1P5
Size : 67,501 bases
Location : 30,278,874 - 30,346,375
SMG1P5
Size : 50,377 bases
Location : 30,296,339 - 30,346,716
ENSG00000282034
Size : 41,102 bases
Location : 30,715,388 - 30,756,490
KRBOX5
Size : 81,640 bases
Location : 31,724,550 - 31,806,190
ENSG00000261727
Size : 76,347 bases
Location : 32,019,759 - 32,096,106
ENSG00000291276
Size : 49,749 bases
Location : 32,114,566 - 32,164,315
HERC2P4
Size : 34,959 bases
Location : 32,163,432 - 32,198,391
ENSG00000260866
Size : 48,068 bases
Location : 32,399,456 - 32,447,524
HERC2P5
Size : 33,015 bases
Location : 32,753,674 - 32,786,689
ENSG00000261259
Size : 76,044 bases
Location : 32,963,314 - 33,039,358
ENSG00000291267
Size : 47,980 bases
Location : 33,054,930 - 33,102,910
ENSG00000260141
Size : 48,902 bases
Location : 33,057,850 - 33,106,752
HERC2P8
Size : 33,057 bases
Location : 33,106,350 - 33,139,407
ENSG00000259882
Size : 45,045 bases
Location : 33,379,969 - 33,425,014
ENSG00000282924
Size : 40,417 bases
Location : 33,525,823 - 33,566,240
CCNYL3
Size : 44,149 bases
Location : 34,274,535 - 34,318,684
ENSG00000260958
Size : 76,262 bases
Location : 34,442,255 - 34,518,517
ENSG00000261669
Size : 16,288 bases
Location : 24,814,772 - 24,831,060
NOVEL
Size : 1,611 bases
Location : 24,930,714 - 24,932,325
ENSG00000260714
Size : 5,045 bases
Location : 25,027,299 - 25,032,344
ENSG00000291179
Size : 1,082 bases
Location : 25,043,016 - 25,044,098
ENSG00000262587
Size : 26,228 bases
Location : 25,043,202 - 25,069,430
LINC02175
Size : 21,681 bases
Location : 25,078,258 - 25,099,939
SCML2P2
Size : 539 bases
Location : 25,080,891 - 25,081,430
ENSG00000263326
Size : 1,237 bases
Location : 25,082,811 - 25,084,048
LCMT1-AS1
Size : 26,387 bases
Location : 25,096,489 - 25,122,876
ENSG00000262700
Size : 1,868 bases
Location : 25,104,708 - 25,106,576
ENSG00000275494
Size : 576 bases
Location : 25,117,889 - 25,118,465
LCMT1-AS2
Size : 8,455 bases
Location : 25,151,898 - 25,160,353
KNOWN
Size : 280 bases
Location : 25,196,528 - 25,196,808
ZKSCAN2
Size : 21,844 bases
Location : 25,247,322 - 25,269,166
ENSG00000259955
Size : 969 bases
Location : 25,249,639 - 25,250,608
ZKSCAN2-DT
Size : 3,114 bases
Location : 25,269,273 - 25,272,387
LINC02191
Size : 13,874 bases
Location : 25,431,133 - 25,445,007
CYCSP39
Size : 308 bases
Location : 25,465,660 - 25,465,968
ENSG00000260255
Size : 1,620 bases
Location : 25,836,031 - 25,837,651
KNOWN
Size : 73 bases
Location : 26,036,558 - 26,036,631
RNA5SP405
Size : 113 bases
Location : 26,040,233 - 26,040,346
HMGN2P3
Size : 272 bases
Location : 26,043,860 - 26,044,132
HSPE1P16
Size : 347 bases
Location : 26,074,071 - 26,074,418
ENSG00000228480
Size : 3,559 bases
Location : 26,366,117 - 26,369,676
LINC02195
Size : 10,701 bases
Location : 26,596,076 - 26,606,777
ENSG00000260580
Size : 7,252 bases
Location : 26,733,195 - 26,740,447
NOVEL
Size : 88 bases
Location : 26,747,550 - 26,747,638
C16orf82
Size : 2,239 bases
Location : 27,078,248 - 27,080,487
ENSG00000261482
Size : 930 bases
Location : 27,078,249 - 27,079,179
EEF1A1P38
Size : 1,696 bases
Location : 27,144,804 - 27,146,500
LINC02129
Size : 18,136 bases
Location : 27,169,772 - 27,187,908
ENSG00000259940
Size : 1,685 bases
Location : 27,224,629 - 27,226,314
NSMCE1-DT
Size : 22,287 bases
Location : 27,279,526 - 27,301,813
ENSG00000274092
Size : 714 bases
Location : 27,324,708 - 27,325,422
IL21R-AS1
Size : 5,724 bases
Location : 27,458,990 - 27,464,714
ENSG00000261736
Size : 1,464 bases
Location : 27,654,520 - 27,655,984
NOVEL
Size : 118 bases
Location : 27,673,221 - 27,673,339
ENSG00000273553
Size : 340 bases
Location : 27,698,503 - 27,698,843
NOVEL
Size : 108 bases
Location : 27,733,605 - 27,733,713
KNOWN
Size : 105 bases
Location : 27,874,572 - 27,874,677
KNOWN
Size : 106 bases
Location : 28,009,616 - 28,009,722
TPRKBP2
Size : 474 bases
Location : 28,122,494 - 28,122,968
NOVEL
Size : 125 bases
Location : 28,190,419 - 28,190,544
NOVEL
Size : 112 bases
Location : 28,194,639 - 28,194,751
GAPDHP35
Size : 975 bases
Location : 28,251,014 - 28,251,989
ENSG00000246465
Size : 7,179 bases
Location : 28,296,206 - 28,303,385
ENSG00000277191
Size : 106 bases
Location : 28,352,758 - 28,352,864
NPIPB6
Size : 20,991 bases
Location : 28,353,838 - 28,374,829
ENSG00000271623
Size : 633 bases
Location : 28,376,021 - 28,376,654
EIF3CL
Size : 24,262 bases
Location : 28,390,900 - 28,415,162
CDC37P2
Size : 1,315 bases
Location : 28,425,024 - 28,426,339
NOVEL
Size : 103 bases
Location : 28,453,987 - 28,454,090
ENSG00000275654
Size : 3,712 bases
Location : 28,462,965 - 28,466,677
ENSG00000270118
Size : 370 bases
Location : 28,465,462 - 28,465,832
KNOWN
Size : 14,175 bases
Location : 28,467,693 - 28,481,868
ENSG00000271495
Size : 327 bases
Location : 28,559,652 - 28,559,979
ENSG00000275441
Size : 491 bases
Location : 28,565,028 - 28,565,519
ENSG00000278665
Size : 2,640 bases
Location : 28,610,562 - 28,613,202
ENSG00000278725
Size : 2,179 bases
Location : 28,613,661 - 28,615,840
ENSG00000289755
Size : 18,038 bases
Location : 28,616,908 - 28,634,946
ENSG00000285020
Size : 2,753 bases
Location : 28,623,452 - 28,626,205
ENSG00000289756
Size : 3,419 bases
Location : 28,631,384 - 28,634,803
NPIPB8
Size : 21,090 bases
Location : 28,648,975 - 28,670,065
NOVEL
Size : 103 bases
Location : 28,683,554 - 28,683,657
CDC37P1
Size : 1,246 bases
Location : 28,711,615 - 28,712,861
ENSG00000270424
Size : 636 bases
Location : 28,761,280 - 28,761,916
NPIPB9
Size : 21,077 bases
Location : 28,763,108 - 28,784,185
ENSG00000278528
Size : 3,710 bases
Location : 28,785,145 - 28,788,855
NOVEL
Size : 103 bases
Location : 28,797,731 - 28,797,834
ENSG00000251417
Size : 15,085 bases
Location : 28,814,064 - 28,829,149
ENSG00000240634
Size : 693 bases
Location : 28,825,301 - 28,825,994
ENSG00000260796
Size : 1,463 bases
Location : 28,831,891 - 28,833,354
ENSG00000275807
Size : 1,538 bases
Location : 28,833,752 - 28,835,290
ENSG00000260570
Size : 6,588 bases
Location : 28,841,933 - 28,848,521
KNOWN
Size : 88 bases
Location : 28,855,240 - 28,855,328
ENSG00000261766
Size : 1,174 bases
Location : 28,873,487 - 28,874,661
ATP2A1-AS1
Size : 2,000 bases
Location : 28,889,259 - 28,891,259
NOVEL
Size : 127 bases
Location : 28,892,801 - 28,892,928
NFATC2IP-AS1
Size : 14,067 bases
Location : 28,964,137 - 28,978,204
KNOWN
Size : 78 bases
Location : 28,969,904 - 28,969,982
ENSG00000260367
Size : 4,862 bases
Location : 28,985,283 - 28,990,145
ENSG00000261067
Size : 15,971 bases
Location : 28,986,125 - 29,002,096
ENSG00000261552
Size : 1,638 bases
Location : 29,000,461 - 29,002,099
NPIPB10P
Size : 14,071 bases
Location : 29,049,976 - 29,064,047
NOVEL
Size : 103 bases
Location : 29,077,576 - 29,077,679
ENSG00000284671
Size : 29,140 bases
Location : 29,086,343 - 29,115,483
ENSG00000290677
Size : 4,451 bases
Location : 29,114,978 - 29,119,429
ENSG00000284649
Size : 3,276 bases
Location : 29,124,371 - 29,127,647
ENSG00000289080
Size : 2,400 bases
Location : 29,156,759 - 29,159,159
ENSG00000279106
Size : 1,222 bases
Location : 29,215,954 - 29,217,176
ENSG00000259807
Size : 5,655 bases
Location : 29,226,706 - 29,232,361
ENSG00000273582
Size : 754 bases
Location : 29,236,915 - 29,237,669
ENSG00000260953
Size : 2,206 bases
Location : 29,273,594 - 29,275,800
ENSG00000277999
Size : 552 bases
Location : 29,283,541 - 29,284,093
ENSG00000289029
Size : 2,273 bases
Location : 29,300,120 - 29,302,393
ENSG00000260413
Size : 18,927 bases
Location : 29,323,671 - 29,342,598
ENSG00000290680
Size : 19,526 bases
Location : 29,362,067 - 29,381,593
SNX29P2
Size : 9,272 bases
Location : 29,367,108 - 29,376,380
ENSG00000278078
Size : 103 bases
Location : 29,391,563 - 29,391,666
NPIPB11
Size : 25,401 bases
Location : 29,392,631 - 29,418,032
SMG1P6
Size : 21,226 bases
Location : 29,437,121 - 29,458,347
NOVEL
Size : 103 bases
Location : 29,448,818 - 29,448,921
BOLA2-SMG1P6
Size : 11,421 bases
Location : 29,454,551 - 29,465,972
ENSG00000260335
Size : 434 bases
Location : 29,460,512 - 29,460,946
SLX1B-SULT1A4
Size : 9,858 bases
Location : 29,466,426 - 29,476,284
ENSG00000290678
Size : 2,866 bases
Location : 29,476,288 - 29,479,154
ENSG00000258150
Size : 519 bases
Location : 29,476,543 - 29,477,062
ENSG00000279228
Size : 1,196 bases
Location : 29,477,390 - 29,478,586
ENSG00000290679
Size : 417 bases
Location : 29,478,482 - 29,478,899
ENSG00000257691
Size : 291 bases
Location : 29,486,385 - 29,486,676
ENSG00000257506
Size : 3,712 bases
Location : 29,490,200 - 29,493,912
NPIPB12
Size : 22,874 bases
Location : 29,494,855 - 29,517,729
NOVEL
Size : 103 bases
Location : 29,550,583 - 29,550,686
ENSG00000279583
Size : 1,007 bases
Location : 29,606,451 - 29,607,458
KNOWN
Size : 86 bases
Location : 29,610,500 - 29,610,586
SLC7A5P1
Size : 537 bases
Location : 29,624,424 - 29,624,961
CA5AP1
Size : 17,543 bases
Location : 29,630,106 - 29,647,649
ENSG00000260514
Size : 308 bases
Location : 29,635,838 - 29,636,146
ENSG00000289181
Size : 172 bases
Location : 29,720,477 - 29,720,649
KNOWN
Size : 353 bases
Location : 29,742,372 - 29,742,725
C16orf54
Size : 3,527 bases
Location : 29,753,784 - 29,757,311
ENSG00000260719
Size : 3,052 bases
Location : 29,756,568 - 29,759,620
ENSG00000275857
Size : 560 bases
Location : 29,815,751 - 29,816,311
ENSG00000259952
Size : 1,236 bases
Location : 29,817,817 - 29,819,053
MVP-DT
Size : 12,616 bases
Location : 29,819,957 - 29,832,573
ENSG00000280607
Size : 3,548 bases
Location : 29,820,000 - 29,823,548
ENSG00000280893
Size : 7,831 bases
Location : 29,823,582 - 29,831,413
ENSG00000281348
Size : 13,388 bases
Location : 29,828,560 - 29,841,948
ENSG00000278713
Size : 657 bases
Location : 29,874,081 - 29,874,738
CDIPTOSP
Size : 4,460 bases
Location : 29,874,914 - 29,879,374
ASPHD1
Size : 19,489 bases
Location : 29,911,696 - 29,931,185
ENSG00000279789
Size : 2,193 bases
Location : 29,924,465 - 29,926,658
KCTD13-DT
Size : 2,097 bases
Location : 29,938,157 - 29,940,254
INO80E
Size : 10,078 bases
Location : 30,007,036 - 30,017,114
ENSG00000285043
Size : 17,291 bases
Location : 30,064,444 - 30,081,735
ENSG00000274904
Size : 519 bases
Location : 30,075,627 - 30,076,146
YPEL3-DT
Size : 8,763 bases
Location : 30,107,751 - 30,116,514
ENSG00000261367
Size : 2,866 bases
Location : 30,118,996 - 30,121,862
ENSG00000275371
Size : 1,060 bases
Location : 30,122,216 - 30,123,276
CORO1A-AS1
Size : 1,452 bases
Location : 30,194,826 - 30,196,278
BOLA2B
Size : 1,374 bases
Location : 30,204,253 - 30,205,627
SLX1A-SULT1A3
Size : 10,418 bases
Location : 30,205,213 - 30,215,631
ENSG00000290692
Size : 4,755 bases
Location : 30,215,637 - 30,220,392
ENSG00000258130
Size : 519 bases
Location : 30,215,892 - 30,216,411
ENSG00000278887
Size : 1,196 bases
Location : 30,216,739 - 30,217,935
ENSG00000290693
Size : 417 bases
Location : 30,217,831 - 30,218,248
ENSG00000261444
Size : 290 bases
Location : 30,225,730 - 30,226,020
ENSG00000261203
Size : 3,710 bases
Location : 30,229,541 - 30,233,251
ENSG00000291047
Size : 9,905 bases
Location : 30,281,386 - 30,291,291
NOVEL
Size : 103 bases
Location : 30,290,569 - 30,290,672
ENSG00000273724
Size : 6,936 bases
Location : 30,347,721 - 30,354,657
CD2BP2-DT
Size : 8,956 bases
Location : 30,365,986 - 30,374,942
ENSG00000274653
Size : 511 bases
Location : 30,371,146 - 30,371,657
ZNF48
Size : 22,002 bases
Location : 30,389,427 - 30,411,429
ENSG00000280137
Size : 347 bases
Location : 30,391,084 - 30,391,431
ZNF771
Size : 23,694 bases
Location : 30,418,735 - 30,442,429
NOVEL
Size : 134 bases
Location : 30,430,946 - 30,431,080
NOVEL
Size : 100 bases
Location : 30,465,318 - 30,465,418
NOVEL
Size : 116 bases
Location : 30,482,908 - 30,483,024
ENSG00000261346
Size : 12,173 bases
Location : 30,488,501 - 30,500,674
ENSG00000260487
Size : 758 bases
Location : 30,491,909 - 30,492,667
KNOWN
Size : 60 bases
Location : 30,494,456 - 30,494,516
ENSG00000261332
Size : 788 bases
Location : 30,510,087 - 30,510,875
KNOWN
Size : 82 bases
Location : 30,515,240 - 30,515,322
ENSG00000261459
Size : 8,929 bases
Location : 30,537,244 - 30,546,173
ENSG00000278922
Size : 1,376 bases
Location : 30,538,239 - 30,539,615
ZNF747
Size : 4,980 bases
Location : 30,541,688 - 30,546,668
ZNF747-DT
Size : 2,397 bases
Location : 30,546,073 - 30,548,470
ENSG00000260494
Size : 1,029 bases
Location : 30,548,523 - 30,549,552
ZNF688
Size : 3,062 bases
Location : 30,580,993 - 30,584,055
ENSG00000239791
Size : 11,821 bases
Location : 30,583,360 - 30,595,181
ZNF785
Size : 12,029 bases
Location : 30,585,061 - 30,597,090
ENSG00000260167
Size : 22,686 bases
Location : 30,597,228 - 30,619,914
ENSG00000261588
Size : 258 bases
Location : 30,598,983 - 30,599,241
ENSG00000289491
Size : 140 bases
Location : 30,621,532 - 30,621,672
ENSG00000260678
Size : 423 bases
Location : 30,626,577 - 30,627,000
ENSG00000261680
Size : 429 bases
Location : 30,635,606 - 30,636,035
ENSG00000260113
Size : 202 bases
Location : 30,638,297 - 30,638,499
ENSG00000288983
Size : 1,065 bases
Location : 30,645,828 - 30,646,893
KNOWN
Size : 102 bases
Location : 30,686,621 - 30,686,723
ENSG00000261840
Size : 1,354 bases
Location : 30,709,025 - 30,710,379
KNOWN
Size : 98 bases
Location : 30,712,658 - 30,712,756
KNOWN
Size : 128 bases
Location : 30,721,858 - 30,721,986
TMEM265
Size : 4,554 bases
Location : 30,751,963 - 30,756,517
ENSG00000260899
Size : 10,714 bases
Location : 30,751,988 - 30,762,702
ENSG00000280211
Size : 2,501 bases
Location : 30,784,853 - 30,787,354
ENSG00000260082
Size : 1,042 bases
Location : 30,832,389 - 30,833,431
ENSG00000274678
Size : 546 bases
Location : 30,832,659 - 30,833,205
MIR762HG
Size : 19,998 bases
Location : 30,886,543 - 30,906,541
KNOWN
Size : 57 bases
Location : 30,886,587 - 30,886,644
ENSG00000262721
Size : 19,450 bases
Location : 30,887,087 - 30,906,537
KNOWN
Size : 82 bases
Location : 30,905,224 - 30,905,306
CTF2P
Size : 5,860 bases
Location : 30,915,669 - 30,921,529
FBXL19-AS1
Size : 3,950 bases
Location : 30,930,640 - 30,934,590
ENSG00000261487
Size : 8,125 bases
Location : 30,959,707 - 30,967,832
ENSG00000275263
Size : 327 bases
Location : 30,968,193 - 30,968,520
ENSG00000279196
Size : 3,640 bases
Location : 30,995,951 - 30,999,591
ENSG00000260911
Size : 6,718 bases
Location : 31,054,471 - 31,061,189
ENSG00000232748
Size : 6,343 bases
Location : 31,067,781 - 31,074,124
ENSG00000261124
Size : 3,751 bases
Location : 31,076,816 - 31,080,567
ENSG00000255439
Size : 11,517 bases
Location : 31,094,760 - 31,106,277
ENSG00000280160
Size : 2,217 bases
Location : 31,105,048 - 31,107,265
NOVEL
Size : 83 bases
Location : 31,120,551 - 31,120,634
ENSG00000262766
Size : 669 bases
Location : 31,129,399 - 31,130,068
ENSG00000278133
Size : 1,829 bases
Location : 31,133,556 - 31,135,385
ENSG00000261385
Size : 444 bases
Location : 31,142,754 - 31,143,198
ENSG00000263343
Size : 279 bases
Location : 31,176,969 - 31,177,248
NDUFA3P6
Size : 249 bases
Location : 31,185,894 - 31,186,143
ENSG00000260304
Size : 774 bases
Location : 31,193,832 - 31,194,606
ENSG00000260060
Size : 832 bases
Location : 31,207,452 - 31,208,284
PYCARD-AS1
Size : 1,567 bases
Location : 31,213,206 - 31,214,773
KNOWN
Size : 54 bases
Location : 31,278,758 - 31,278,812
ENSG00000289930
Size : 801 bases
Location : 31,363,088 - 31,363,889
ENSG00000261245
Size : 417 bases
Location : 31,372,599 - 31,373,016
ENSG00000260757
Size : 2,134 bases
Location : 31,413,886 - 31,416,020
ENSG00000277543
Size : 466 bases
Location : 31,439,501 - 31,439,967
ZNF843
Size : 10,567 bases
Location : 31,443,914 - 31,454,481
ENSG00000261474
Size : 3,958 bases
Location : 31,460,856 - 31,464,814
ENSG00000260267
Size : 3,025 bases
Location : 31,468,032 - 31,471,057
ENSG00000280132
Size : 1,904 bases
Location : 31,481,525 - 31,483,429
ENSG00000260740
Size : 1,122 bases
Location : 31,498,691 - 31,499,813
RUSF1
Size : 19,838 bases
Location : 31,500,792 - 31,520,630
RUSF1-DT
Size : 1,102 bases
Location : 31,519,785 - 31,520,887
ENSG00000289889
Size : 5,482 bases
Location : 31,528,123 - 31,533,605
LINC02190
Size : 10,856 bases
Location : 31,554,069 - 31,564,925
ENSG00000261648
Size : 539 bases
Location : 31,558,019 - 31,558,558
VN1R64P
Size : 932 bases
Location : 31,558,126 - 31,559,058
VN1R65P
Size : 807 bases
Location : 31,565,426 - 31,566,233
FRG2KP
Size : 1,701 bases
Location : 31,574,403 - 31,576,104
FRG2KP
Size : 4,531 bases
Location : 31,574,506 - 31,579,037
ENSG00000278885
Size : 640 bases
Location : 31,577,681 - 31,578,321
YBX3P1
Size : 1,089 bases
Location : 31,579,707 - 31,580,796
KRBOX5P1
Size : 1,938 bases
Location : 31,612,914 - 31,614,852
VN1R66P
Size : 915 bases
Location : 31,659,628 - 31,660,543
RBM22P12
Size : 1,254 bases
Location : 31,692,168 - 31,693,422
ENSG00000260472
Size : 210 bases
Location : 31,708,718 - 31,708,928
ENSG00000260568
Size : 789 bases
Location : 31,710,997 - 31,711,786
ENSG00000290927
Size : 11,428 bases
Location : 31,711,879 - 31,723,307
CLUHP3
Size : 5,413 bases
Location : 31,714,489 - 31,719,902
ENSG00000276867
Size : 532 bases
Location : 31,716,049 - 31,716,581
ENSG00000261731
Size : 2,871 bases
Location : 31,720,434 - 31,723,305
ENSG00000259810
Size : 2,791 bases
Location : 31,799,523 - 31,802,314
VN1R67P
Size : 912 bases
Location : 31,812,906 - 31,813,818
ENSG00000261457
Size : 5,026 bases
Location : 31,814,268 - 31,819,294
VN1R3
Size : 918 bases
Location : 31,819,247 - 31,820,165
RBM22P13
Size : 1,243 bases
Location : 31,874,954 - 31,876,197
ENSG00000259874
Size : 237 bases
Location : 31,882,208 - 31,882,445
ENSG00000259950
Size : 441 bases
Location : 31,905,863 - 31,906,304
ENSG00000261289
Size : 313 bases
Location : 31,963,481 - 31,963,794
ENSG00000197476
Size : 318 bases
Location : 31,973,384 - 31,973,702
ENSG00000260218
Size : 276 bases
Location : 31,975,124 - 31,975,400
ENSG00000260628
Size : 29,154 bases
Location : 31,987,124 - 32,016,278
ENSG00000291271
Size : 12,615 bases
Location : 31,993,191 - 32,005,806
ENSG00000290953
Size : 1,255 bases
Location : 32,006,142 - 32,007,397
IGHV1OR16-1
Size : 473 bases
Location : 32,046,174 - 32,046,647
ENSG00000223931
Size : 455 bases
Location : 32,063,146 - 32,063,601
IGHV1OR16-3
Size : 288 bases
Location : 32,070,405 - 32,070,693
IGHV3OR16-9
Size : 293 bases
Location : 32,077,386 - 32,077,679
ENSG00000260584
Size : 297 bases
Location : 32,128,021 - 32,128,318
ENSG00000286473
Size : 6,292 bases
Location : 32,137,753 - 32,144,045
ENSG00000290845
Size : 18,123 bases
Location : 32,181,305 - 32,199,428
ENSG00000279997
Size : 687 bases
Location : 32,196,945 - 32,197,632
ENSG00000260847
Size : 5,197 bases
Location : 32,199,654 - 32,204,851
ENSG00000260649
Size : 219 bases
Location : 32,200,583 - 32,200,802
ABHD17AP8
Size : 2,920 bases
Location : 32,211,223 - 32,214,143
ENSG00000260344
Size : 123 bases
Location : 32,224,701 - 32,224,824
ENSG00000260575
Size : 3,802 bases
Location : 32,261,941 - 32,265,743
TP53TG3D
Size : 2,642 bases
Location : 32,264,607 - 32,267,249
ENSG00000260402
Size : 2,687 bases
Location : 32,274,148 - 32,276,835
ENSG00000259822
Size : 249 bases
Location : 32,290,187 - 32,290,436
ENSG00000261127
Size : 21,008 bases
Location : 32,300,868 - 32,321,876
CHEK2P7
Size : 6,714 bases
Location : 32,368,302 - 32,375,016
ACTR3BP3
Size : 978 bases
Location : 32,390,392 - 32,391,370
PABPC1P13
Size : 2,090 bases
Location : 32,450,390 - 32,452,480
ENSG00000261541
Size : 4,146 bases
Location : 32,465,933 - 32,470,079
ENSG00000260662
Size : 96 bases
Location : 32,471,587 - 32,471,683
ABCD1P3
Size : 3,199 bases
Location : 32,486,372 - 32,489,571
ENSG00000289734
Size : 15,272 bases
Location : 32,611,620 - 32,626,892
FAM153DP
Size : 13,064 bases
Location : 32,613,896 - 32,626,960
ENSG00000262187
Size : 3,451 bases
Location : 32,630,054 - 32,633,505
ENSG00000261111
Size : 372 bases
Location : 32,646,994 - 32,647,366
ENSG00000261569
Size : 14,763 bases
Location : 32,660,514 - 32,675,277
ENSG00000261263
Size : 715 bases
Location : 32,661,516 - 32,662,231
ENSG00000282927
Size : 244 bases
Location : 32,661,995 - 32,662,239
ENSG00000260311
Size : 2,608 bases
Location : 32,675,246 - 32,677,854
TP53TG3F
Size : 2,637 bases
Location : 32,684,849 - 32,687,486
ENSG00000260974
Size : 3,794 bases
Location : 32,686,358 - 32,690,152
ENSG00000261391
Size : 125 bases
Location : 32,727,252 - 32,727,377
ABHD17AP7
Size : 2,922 bases
Location : 32,737,936 - 32,740,858
ENSG00000260845
Size : 5,185 bases
Location : 32,747,230 - 32,752,415
ENSG00000261108
Size : 539 bases
Location : 32,750,948 - 32,751,487
ENSG00000291274
Size : 12,024 bases
Location : 32,752,635 - 32,764,659
ENSG00000291275
Size : 10,655 bases
Location : 32,772,264 - 32,782,919
ENSG00000290984
Size : 1,267 bases
Location : 32,786,250 - 32,787,517
ENSG00000278950
Size : 2,255 bases
Location : 32,793,204 - 32,795,459
ENSG00000279780
Size : 985 bases
Location : 32,797,715 - 32,798,700
ENSG00000279795
Size : 982 bases
Location : 32,799,283 - 32,800,265
ENSG00000260158
Size : 15,089 bases
Location : 32,820,877 - 32,835,966
ENSG00000261719
Size : 222 bases
Location : 32,822,350 - 32,822,572
ENSG00000259934
Size : 216 bases
Location : 32,857,285 - 32,857,501
IGHV2OR16-5
Size : 443 bases
Location : 32,859,034 - 32,859,477
BCAP31P2
Size : 3,143 bases
Location : 32,881,306 - 32,884,449
SLC6A10P
Size : 7,673 bases
Location : 32,888,790 - 32,896,463
SLC6A10P
Size : 6,795 bases
Location : 32,890,027 - 32,896,822
ENSG00000214614
Size : 6,288 bases
Location : 32,893,907 - 32,900,195
IGHV3OR16-15
Size : 452 bases
Location : 32,914,763 - 32,915,215
IGHV3OR16-6
Size : 462 bases
Location : 32,926,395 - 32,926,857
ENSG00000277304
Size : 29,418 bases
Location : 32,928,295 - 32,957,713
ENSG00000260610
Size : 801 bases
Location : 32,943,089 - 32,943,890
IGHV1OR16-2
Size : 430 bases
Location : 32,989,782 - 32,990,212
IGHV3OR16-10
Size : 457 bases
Location : 33,006,369 - 33,006,826
ENSG00000260921
Size : 1,233 bases
Location : 33,006,858 - 33,008,091
IGHV1OR16-4
Size : 288 bases
Location : 33,013,654 - 33,013,942
IGHV3OR16-8
Size : 445 bases
Location : 33,020,496 - 33,020,941
ENSG00000260900
Size : 162 bases
Location : 33,071,257 - 33,071,419
ENSG00000291268
Size : 1,267 bases
Location : 33,105,525 - 33,106,792
ENSG00000290986
Size : 10,657 bases
Location : 33,110,129 - 33,120,786
ENSG00000291269
Size : 17,408 bases
Location : 33,123,003 - 33,140,411
ENSG00000261682
Size : 5,183 bases
Location : 33,140,637 - 33,145,820
ENSG00000259800
Size : 207 bases
Location : 33,141,556 - 33,141,763
ABHD17AP9
Size : 2,947 bases
Location : 33,152,171 - 33,155,118
ENSG00000260414
Size : 123 bases
Location : 33,165,673 - 33,165,796
ENSG00000260419
Size : 3,793 bases
Location : 33,202,882 - 33,206,675
TP53TG3E
Size : 2,639 bases
Location : 33,205,547 - 33,208,186
TP53TG3C
Size : 2,632 bases
Location : 33,205,547 - 33,208,179
ENSG00000260827
Size : 2,689 bases
Location : 33,215,094 - 33,217,783
NOVEL
Size : 13,831 bases
Location : 33,217,752 - 33,231,583
ENSG00000282973
Size : 214 bases
Location : 33,246,423 - 33,246,637
TP53TG3B
Size : 2,637 bases
Location : 33,262,082 - 33,264,719
ENSG00000261009
Size : 2,442 bases
Location : 33,271,714 - 33,274,156
ENSG00000283110
Size : 244 bases
Location : 33,287,346 - 33,287,590
ENSG00000262090
Size : 150 bases
Location : 33,298,410 - 33,298,560
ENSG00000260626
Size : 1,160 bases
Location : 33,336,283 - 33,337,443
ENSG00000261200
Size : 3,970 bases
Location : 33,344,309 - 33,348,279
ENSG00000261466
Size : 6,111 bases
Location : 33,350,764 - 33,356,875
ENSG00000290420
Size : 1,697 bases
Location : 33,365,116 - 33,366,813
CHEK2P6
Size : 7,905 bases
Location : 33,365,497 - 33,373,402
KNOWN
Size : 129 bases
Location : 33,379,962 - 33,380,091
ENSG00000290414
Size : 1,056 bases
Location : 33,489,492 - 33,490,548
BMS1P8
Size : 11,174 bases
Location : 33,489,797 - 33,500,971
ENSG00000291264
Size : 18,991 bases
Location : 33,490,689 - 33,509,680
ENPP7P13
Size : 258 bases
Location : 33,571,888 - 33,572,146
ENSG00000260308
Size : 213 bases
Location : 33,573,502 - 33,573,715
IGHV3OR16-12
Size : 453 bases
Location : 33,605,231 - 33,605,684
ENSG00000261153
Size : 1,989 bases
Location : 33,611,245 - 33,613,234
IGHV3OR16-13
Size : 447 bases
Location : 33,629,681 - 33,630,128
IGHV3OR16-17
Size : 445 bases
Location : 33,647,251 - 33,647,696
ENSG00000270924
Size : 168 bases
Location : 33,650,943 - 33,651,111
ENSG00000271691
Size : 284 bases
Location : 33,654,252 - 33,654,536
ENSG00000260312
Size : 929 bases
Location : 33,660,402 - 33,661,331
IGHV3OR16-11
Size : 456 bases
Location : 33,661,363 - 33,661,819
ENSG00000260525
Size : 429 bases
Location : 33,677,506 - 33,677,935
ARHGAP23P1
Size : 29,605 bases
Location : 33,709,886 - 33,739,491
ENSG00000290419
Size : 737 bases
Location : 33,738,897 - 33,739,634
IGHV3OR16-7
Size : 462 bases
Location : 33,740,804 - 33,741,266
ENSG00000261607
Size : 270 bases
Location : 33,750,745 - 33,751,015
IGHV3OR16-16
Size : 444 bases
Location : 33,752,443 - 33,752,887
ENSG00000205452
Size : 11,799 bases
Location : 33,767,014 - 33,778,813
ENSG00000270401
Size : 436 bases
Location : 33,768,122 - 33,768,558
ENSG00000198555
Size : 11,591 bases
Location : 33,778,506 - 33,790,097
BCAP31P1
Size : 3,145 bases
Location : 33,790,873 - 33,794,018
ENSG00000259990
Size : 436 bases
Location : 33,815,861 - 33,816,297
ENSG00000283065
Size : 217 bases
Location : 33,817,727 - 33,817,944
ENSG00000261197
Size : 223 bases
Location : 33,853,607 - 33,853,830
ENSG00000262561
Size : 207 bases
Location : 33,922,937 - 33,923,144
DUX4L45
Size : 1,056 bases
Location : 33,938,203 - 33,939,259
PCMTD1P2
Size : 354 bases
Location : 33,941,656 - 33,942,010
DUX4L46
Size : 750 bases
Location : 33,943,723 - 33,944,473
DUX4L47
Size : 393 bases
Location : 33,944,923 - 33,945,316
NOVEL
Size : 72 bases
Location : 33,945,949 - 33,946,021
LINC00273
Size : 1,451 bases
Location : 33,961,052 - 33,962,503
NOVEL
Size : 114 bases
Location : 33,961,652 - 33,961,766
RNA5-8SP2
Size : 151 bases
Location : 33,965,426 - 33,965,577
ENSG00000279165
Size : 1,903 bases
Location : 34,176,348 - 34,178,251
ENSG00000286968
Size : 2,300 bases
Location : 34,197,341 - 34,199,641
ENSG00000287353
Size : 2,300 bases
Location : 34,197,341 - 34,199,641
LINC02184
Size : 1,100 bases
Location : 34,213,115 - 34,214,215
KNOWN
Size : 240 bases
Location : 34,213,746 - 34,213,986
NOVEL
Size : 363 bases
Location : 34,232,106 - 34,232,469
ENSG00000179755
Size : 2,480 bases
Location : 34,256,120 - 34,258,600
ENSG00000288300
Size : 2,228 bases
Location : 34,256,372 - 34,258,600
ENSG00000261566
Size : 1,399 bases
Location : 34,257,222 - 34,258,621
ENSG00000262885
Size : 426 bases
Location : 34,257,710 - 34,258,136
ENSG00000284209
Size : 29,610 bases
Location : 34,265,090 - 34,294,700
CLUHP11
Size : 16,849 bases
Location : 34,302,582 - 34,319,431
NAMPTP3
Size : 223 bases
Location : 34,320,267 - 34,320,490
VPS35P1
Size : 14,333 bases
Location : 34,324,872 - 34,339,205
VN1R68P
Size : 718 bases
Location : 34,352,609 - 34,353,327
VN1R69P
Size : 561 bases
Location : 34,368,885 - 34,369,446
KNOWN
Size : 510 bases
Location : 34,375,269 - 34,375,779
ENSG00000261800
Size : 2,407 bases
Location : 34,378,093 - 34,380,500
KNOWN
Size : 489 bases
Location : 34,378,356 - 34,378,845
ENSG00000280180
Size : 5,730 bases
Location : 34,383,007 - 34,388,737
KNOWN
Size : 333 bases
Location : 34,383,828 - 34,384,161
UBE2MP1
Size : 549 bases
Location : 34,404,063 - 34,404,612
SLC25A1P4
Size : 777 bases
Location : 34,407,687 - 34,408,464
ENSG00000260073
Size : 2,974 bases
Location : 34,427,058 - 34,430,032
ENSG00000260590
Size : 399 bases
Location : 34,427,706 - 34,428,105
ENSG00000261398
Size : 1,765 bases
Location : 34,430,150 - 34,431,915
TP53TG3GP
Size : 333 bases
Location : 34,442,274 - 34,442,607
NOVEL
Size : 65 bases
Location : 34,442,877 - 34,442,942
RARRES2P5
Size : 465 bases
Location : 34,455,954 - 34,456,419
FGFR3P5
Size : 3,572 bases
Location : 34,466,783 - 34,470,355
FRG2JP
Size : 1,618 bases
Location : 34,480,287 - 34,481,905
RARRES2P6
Size : 441 bases
Location : 34,489,563 - 34,490,004
AGGF1P8
Size : 999 bases
Location : 34,493,001 - 34,494,000
NOVEL
Size : 101 bases
Location : 34,510,863 - 34,510,964
FRG2HP
Size : 1,612 bases
Location : 34,569,648 - 34,571,260
RARRES2P9
Size : 468 bases
Location : 34,578,462 - 34,578,930
AGGF1P9
Size : 912 bases
Location : 34,581,756 - 34,582,668
C2orf69P4
Size : 540 bases
Location : 34,586,853 - 34,587,393
LINC01566
Size : 27,172 bases
Location : 34,597,783 - 34,624,955
FRG2GP
Size : 942 bases
Location : 34,618,515 - 34,619,457
AGGF1P4
Size : 800 bases
Location : 34,623,574 - 34,624,374
FRG2IP
Size : 1,602 bases
Location : 34,640,118 - 34,641,720
RARRES2P7
Size : 468 bases
Location : 34,648,650 - 34,649,118
AGGF1P5
Size : 918 bases
Location : 34,654,662 - 34,655,580
C2orf69P3
Size : 1,119 bases
Location : 34,659,735 - 34,660,854
ENSG00000278681
Size : 1,038 bases
Location : 34,669,674 - 34,670,712
ZNF971P
Size : 2,513 bases
Location : 34,681,269 - 34,683,782
ENSG00000287163
Size : 2,089 bases
Location : 34,685,269 - 34,687,358
ENSG00000290413
Size : 3,067 bases
Location : 34,711,785 - 34,714,852
FRG2DP
Size : 822 bases
Location : 34,712,988 - 34,713,810
RARRES2P10
Size : 459 bases
Location : 34,720,137 - 34,720,596
AGGF1P6
Size : 975 bases
Location : 34,723,608 - 34,724,583
ENSG00000261350
Size : 1,221 bases
Location : 34,725,545 - 34,726,766
C2orf69P2
Size : 1,122 bases
Location : 34,726,695 - 34,727,817
ENSG00000261445
Size : 2,703 bases
Location : 34,728,125 - 34,730,828
ENSG00000287448
Size : 22,971 bases
Location : 34,733,865 - 34,756,836
ENSG00000260857
Size : 2,197 bases
Location : 34,738,741 - 34,740,938
TP53TG3HP
Size : 578 bases
Location : 34,740,963 - 34,741,541
ENSG00000282946
Size : 951 bases
Location : 34,762,738 - 34,763,689
RARRES2P8
Size : 366 bases
Location : 34,777,650 - 34,778,016
AGGF1P7
Size : 912 bases
Location : 34,782,288 - 34,783,200
C2orf69P1
Size : 1,092 bases
Location : 34,787,280 - 34,788,372
C1QL1P1
Size : 660 bases
Location : 34,809,205 - 34,809,865
KIF18BP1
Size : 8,493 bases
Location : 34,871,058 - 34,879,551
ENSG00000259791
Size : 553 bases
Location : 34,874,400 - 34,874,953
ENSG00000260522
Size : 261 bases
Location : 34,956,639 - 34,956,900
RNA5SP406
Size : 111 bases
Location : 34,968,764 - 34,968,875
RNA5SP407
Size : 109 bases
Location : 34,969,010 - 34,969,119
RNA5SP408
Size : 99 bases
Location : 34,969,743 - 34,969,842
RNA5SP409
Size : 108 bases
Location : 34,969,996 - 34,970,104
LINC02167
Size : 13,247 bases
Location : 34,977,639 - 34,990,886
RNA5SP410
Size : 105 bases
Location : 34,980,360 - 34,980,465
RNA5SP411
Size : 113 bases
Location : 34,980,894 - 34,981,007
RNA5SP412
Size : 122 bases
Location : 34,981,143 - 34,981,265
RNA5SP413
Size : 108 bases
Location : 34,981,403 - 34,981,511
RNA5SP414
Size : 135 bases
Location : 34,982,891 - 34,983,026
RNA5SP415
Size : 114 bases
Location : 34,984,432 - 34,984,546
RNA5SP416
Size : 110 bases
Location : 34,985,945 - 34,986,055
RNA5SP417
Size : 107 bases
Location : 34,986,199 - 34,986,306
RNA5SP418
Size : 116 bases
Location : 34,987,197 - 34,987,313
RNA5SP419
Size : 134 bases
Location : 34,988,167 - 34,988,301
RNA5SP420
Size : 136 bases
Location : 34,988,417 - 34,988,553
RNA5SP421
Size : 133 bases
Location : 34,988,926 - 34,989,059
RNA5SP422
Size : 110 bases
Location : 34,989,294 - 34,989,404
RNA5SP423
Size : 108 bases
Location : 34,989,548 - 34,989,656
ENSG00000260611
Size : 1,318 bases
Location : 35,019,940 - 35,021,258
HMGN2P41
Size : 411 bases
Location : 35,037,240 - 35,037,651
VN1R70P
Size : 846 bases
Location : 35,071,257 - 35,072,103
ENSG00000261782
Size : 462 bases
Location : 35,113,407 - 35,113,869
NOVEL
Size : 109 bases
Location : 35,136,344 - 35,136,453
ENSG00000279666
Size : 1,799 bases
Location : 35,137,488 - 35,139,287
PPP1R1AP2
Size : 396 bases
Location : 35,146,491 - 35,146,887
0 ClinGen CNV overlap(s) (>= 70% only)
0 Benign CNV 0 Likely benign CNV 0 Uncertain CNV 0 Likely pathogenic CNV 0 Pathogenic CNV
0 Decipher CNV overlap(s) (>= 70% only)
0 Benign CNV 0 Unknown CNV 0 Uncertain CNV 0 Pathogenic CNV
8 Gene(s) in SFARI Database
0 DGV-Gold overlap(s) (>= 50% only)
0 DGV overlap(s) (>= 50% only)
0 Patient cases (>= 70% only)
0 Controls (>= 70% only)
38 Gene(s) in PanelApp Database
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Severe multi-system atopic disease with high IgE |
- [IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 |
- Radboud University Medical Center, Nijmegen |
|
| High | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 56, OMIM:615207 - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Combined immunodeficiency - Omenn syndrome - Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease - Immunodeficiencies affecting cellular and humoral immunity |
- IUIS Classification February 2018 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 |
| High | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 56, OMIM:615207 |
- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | IUGR and IGF abnormalities | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Floating-Harbor syndrome, 136140 |
- Expert Review Green - Emory Genetics Laboratory |
| Medium | Autism |
- Expert Review Amber - SFARI |
||
| High | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- FLOATING-HARBOR SYNDROME |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Low | Rare syndromic craniosynostosis or isolated multisuture synostosis | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Literature |
|
| Low | Osteogenesis imperfecta |
- Proportionate Short Stature/Small for Gestational Age |
- Expert Review Removed - Emory Genetics Laboratory |
|
| High | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- FLOATING-HARBOR SYNDROME 136140 |
- DD-Gene2Phenotype - Expert Review Green |
| High | Growth failure in early childhood | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Floating Harbor - Floating-Harbor syndrome, 136140 |
- Expert list - Expert Review Green |
| High | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Floating-Harbor syndrome, 136140 - FLOATING-HARBOR SYNDROME |
- Victorian Clinical Genetics Services - Expert Review Green - Radboud University Medical Center, Nijmegen |
| High | Severe Paediatric Disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Floating-Harbor syndrome, 136140 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | COVID-19 research | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Systemic lupus erythematous |
- Expert Review Amber - GRID V2.0 - Victorian Clinical Genetics Services - Victorian Clinical Genetics Services - GRID V2.0 |
| Low | Primary immunodeficiency or monogenic inflammatory bowel disease | Unknown |
- Systemic lupus erythematous |
- Expert Review Red - Victorian Clinical Genetics Services - GRID V2.0 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Hyperammonaemia |
- Emory Genetics Laboratory |
||
| Low | Glaucoma (developmental) |
- Eye Disorders |
- NHS GMS - Emory Genetics Laboratory |
|
| Low | Parkinson Disease and Complex Parkinsonism | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 MIM#204200 |
- Expert list |
| High | Lysosomal storage disorder | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 - neuronal ceroid lipofuscinosis 3 MONDO:0008767 |
- NHS GMS - Wessex and West Midlands GLH - Expert Review Green - North London GLH |
| High | Neuronal ceroid lipofuscinosis | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 - neuronal ceroid lipofuscinosis 3 MONDO:0008767 |
- NHS GMS - London North GLH - Expert Review Green |
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 204200 |
- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen - UKGTN - Emory Genetics Laboratory - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- London North GLH - NHS GMS - Expert Review Green |
| Low | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200 |
- DD-Gene2Phenotype - Expert Review Green |
| High | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 204200 |
- Wessex and West Midlands GLH - NHS GMS - Expert Review Green - Victorian Clinical Genetics Services - Expert |
| High | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 - NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3) |
- Victorian Clinical Genetics Services - Expert Review Green - Radboud University Medical Center, Nijmegen |
| High | Retinal disorders | BIALLELIC, autosomal or pseudoautosomal |
- Eye Disorders - Retinitis pigmentosa |
- NHS GMS - Expert Review Green |
| Low | Structural eye disease | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 - Eye Disorders |
- NHS GMS - Expert Review Red |
| High | Childhood onset dystonia, chorea or related movement disorder | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- Expert Review Green - London North GLH |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | White matter disorders and cerebral calcification - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial Leukoencephalopathy - Combined oxidative phosphorylation deficiency 4, OMIM:610678 |
- Expert Review Green - NHS GMS |
| Medium | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial Leukoencephalopathy |
- Expert Review Amber - Expert list |
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Combined oxidative phosphorylation deficiency 4 610678 |
- Expert Review Green - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Multiple respiratory chain complex deficiencies (disorders of protein synthesis) - Combined oxidative phosphorylation deficiency 4 610678 - Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Green - Expert Review Green - London North GLH - NHS GMS - Victorian Clinical Genetics Services |
| High | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Green - NHS GMS |
| Medium | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 |
- Expert Review Green - DD-Gene2Phenotype |
| Low | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Red |
| High | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4 610678 |
- Expert Review Green - Victorian Clinical Genetics Services - Radboud University Medical Center, Nijmegen - Expert list - Expert |
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | Severe early-onset obesity | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- obesity - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994 |
- Expert Review Amber - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Skeletal Muscle Channelopathies | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy 601003 |
- Expert Review Green - Expert list |
| Low | Other rare neuromuscular disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 - Brody Myopathy |
- Expert Review Red |
| Low | Paroxysmal central nervous system disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Expert Review Red - NHS GMS - London North GLH - Wessex and West Midlands GLH |
| Low | Arthrogryposis | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Brody Myopathy - Brody myopathy, 601003 |
- Expert Review Red - Illumina TruGenome Clinical Sequencing Services - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen |
| Low | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, OMIM:601003 |
- Expert Review Red - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Illumina TruGenome Clinical Sequencing Services |
| High | Skeletal muscle channelopathy | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy OMIM:601003 |
- NHS GMS - Expert Review Green - London North GLH |
| Low | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Expert Review Red - NHS GMS - Yorkshire and North East GLH - Expert Review |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3 - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Immunodeficiency, common variable, 3 613493 - Common variable immunodeficiency disorders (CVID) - Predominantly Antibody Deficiencies - hypogammaglobulinemia |
- IUIS Classification February 2018 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25 |
| High | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3 613493 - hypogammaglobulinemia - Immunodeficiency, common variable, 3 - Common variable immunodeficiency disorders (CVID) - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Predominantly Antibody Deficiencies |
- NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25 |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiencies affecting cellular and humoral immunity - Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity |
- IUIS Classification February 2018 - SCID v1.6 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - North West GLH - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - Expert Review Green - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25 |
| Medium | Inherited bleeding disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Expert Review Amber - Other |
| High | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity - Immunodeficiencies affecting cellular and humoral immunity |
- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25 |
| Medium | Cytopenias and congenital anaemias | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Expert Review Amber - Other |
| Medium | Cytopenia - NOT Fanconi anaemia | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- North West GLH - NHS GMS - Expert Review Amber - Wessex and West Midlands GLH |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Next Generation Children Project - Expert Review Green - Expert list |
| 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 |
- Expert Review Red - Radboud University Medical Center, Nijmegen |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 |
- NHS GMS - Expert Review Green - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Expert list - UKGTN - |
| High | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Low | Osteogenesis imperfecta |
- Disproportionate Short Stature |
- Expert Review Removed - Emory Genetics Laboratory |
|
| High | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 |
- DD-Gene2Phenotype - Expert Review Green |
| Low | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 - SEMDJL2 |
- Expert Review Red |
| Low | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Brain channelopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - EPISODIC KINESIGENIC DYSKINESIA 1 - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - episodic kinesigenic dyskinesia - dystonia and occasionally hemiplegic migraine and epilepsy |
- Expert Review Green - UKGTN - Eligibility statement prior genetic testing |
| High | Early onset dystonia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Episodic kinesigenic dyskinesia 1, 128200 - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions |
- Expert Review Green - Expert - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - UKGTN |
| High | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - Seizures, benign familial infantile, 2, 605751 |
- Expert Review Green |
| High | Hereditary ataxia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - Seizures, benign familial infantile, 2, 605751 |
- Expert Review Green - UKGTN |
| High | Paroxysmal central nervous system disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Seizures, benign familial infantile, 2, 605751 - dystonia and occasionally hemiplegic migraine and epilepsy - Episodic kinesigenic dyskinesia 1, 128200 - Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 |
- Expert Review Green - NHS GMS - London North GLH - Wessex and West Midlands GLH |
| Low | Adult onset neurodegenerative disorder | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- dystonia and occasionally hemiplegic migraine and epilepsy - episodic kinesigenic dyskinesia - EPISODIC KINESIGENIC DYSKINESIA 1 - CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - Episodic kinesigenic dyskinesia 1, 128200 |
- Expert Review Red - Wessex and West Midlands GLH - Yorkshire and North East GLH - NHS GMS - London North GLH |
| Low | Fetal anomalies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME - AUTOSOMAL RECESSIVE MENTAL RETARDATION |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| High | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- AUTOSOMAL RECESSIVE MENTAL RETARDATION - BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 |
- DD-Gene2Phenotype - Expert Review Green |
| High | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis - Episodic kinesigenic dyskinesia 1 - Seizures, benign familial infantile, 2 - BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME |
- Wessex and West Midlands GLH - NHS GMS - NIHRBR-RD Consortium SPEED_v3.0_20170404 - Victorian Clinical Genetics Services - Expert Review Green - UKGTN - Expert |
| Medium | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Epilepsy - mental retardation - movement disorders - paroxysmal disorder - Autosomal recessive mental retardation |
- Expert Review Amber |
| High | Hereditary ataxia with onset in adulthood | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - EPISODIC KINESIGENIC DYSKINESIA 1 - Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 - dystonia and occasionally hemiplegic migraine and epilepsy - episodic kinesigenic dyskinesia - episodic kinesigenic dyskinesia, 128200 |
- London North GLH - NHS GMS - Wessex and West Midlands GLH - Expert Review Green - Brain channelopathy v1.46 - Hereditary ataxia v1.148 |
| High | Adult onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Episodic kinesigenic dyskinesia 1, OMIM:128200 - Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 |
- NHS GMS - London North GLH - Expert Review Green |
| High | Childhood onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia |
- PanelApp - Expert Review Green - London North GLH |
| High | Childhood onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia |
- PanelApp - Expert Review Green - London North GLH |
| High | Childhood onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia |
- PanelApp - Expert Review Green - London North GLH |
| High | Recurrent episodic apnoea | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 - infantile convulsions and choreoathetosis, MONDO:0011178 - Episodic kinesigenic dyskinesia 1, OMIM:128200 - episodic kinesigenic dyskinesia 1, MONDO:0100352 - Seizures, benign familial infantile, 2, OMIM: 605751 - seizures, benign familial infantile, 2, MONDO:0011593 |
- Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Ketotic hypoglycaemia | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII, 611881 - Glycogen Storage Disease |
- Expert Review Green - Radboud University Medical Center, Nijmegen - UKGTN |
| High | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII, OMIM:611881 |
- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen - UKGTN |
| High | Other rare neuromuscular disorders | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII |
- Expert Review Green |
| High | Glycogen storage disease | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII 611881 |
- NHS GMS - Wessex and West Midlands GLH - London North GLH - Expert Review Green |
| High | Cytopenias and congenital anaemias | BIALLELIC, autosomal or pseudoautosomal |
- Enzyme Disorder - Glycogen storage disease - Glycogen storage disease XII, 611881 - Aldolase A deficiency - Glycogen storage disease due to aldolase A deficiency |
- Expert Review Green - Radboud University Medical Center, Nijmegen - Illumina TruGenome Clinical Sequencing Services - BRIDGE consortium (NIHRBR-RD) |
| High | Rare anaemia | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease due to aldolase A deficiency - 611881 Aldolase A deficiency - Enzyme Disorder - Aldolase A deficiency - Glycogen storage disease XII, 611881 - 611881 Glycogen storage disease XII - Glycogen storage disease |
- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH |
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Aldolase A deficiency (Glycogen storage disorders) - Glycogen storage disease XII, 611881 - Glycogen Storage Disease |
- Expert Review Green - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen Storage Disease - Aldolase A deficiency (Glycogen storage disorders) - Glycogen storage disease XII, 611881 |
- London North GLH - NHS GMS - Expert Review Green |
| High | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- GLYCOGEN STORAGE DISEASE XII |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- GLYCOGEN STORAGE DISEASE XII 611881 |
- DD-Gene2Phenotype - Expert Review Green |
| Medium | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Gene2Phenotype confirmed gene with ID HPO |
- Expert Review Amber - Expert Review Amber - BRIDGE study SPEED NEURO Tier1 Gene |
| High | Acute rhabdomyolysis | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII, OMIM:611881 |
- NHS GMS - Expert Review Green |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Familial Neural Tube Defects |
- Spondylocostal Dysostosis |
- UKGTN |
|
| High | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Spondylocostal dysostosis 5 122600 - Spondylocostal dysostosis 5 122600 |
- NHS GMS - Expert Review Green - |
| High | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Spondylocostal dysostosis 5 122600 |
- PAGE Additional Gene List - Expert Review Green |
| High | Severe Paediatric Disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Spondylocostal dysostosis 5, 122600 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Combined immunodeficiency - Immunodeficiency 8 - hypogammaglobulinaemia, combined immunodeficiency - Coronin-1A deficiency - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Detectable thymus, EBV - Immunodeficiencies affecting cellular and humoral immunity - Omenn syndrome - Severe combined immunodeficiency (SCID) |
- IUIS Classification February 2018 - London North GLH - GOSH PID v.8.0 - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - GOSH PID v.8.0 - Combined B and T cell defect v1.12 |
| Medium | Epidermodysplasia verruciformis | BIALLELIC, autosomal or pseudoautosomal |
- Expert Review Amber |
|
| High | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 8 - Combined immunodeficiency - hypogammaglobulinaemia, combined immunodeficiency - Coronin-1A deficiency - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Severe combined immunodeficiency (SCID) - Omenn syndrome - Detectable thymus, EBV - Immunodeficiencies affecting cellular and humoral immunity |
- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 - GOSH PID v.8.0 - Combined B and T cell defect v1.12 |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 8, 615401 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 8, 615401 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Ketotic hypoglycaemia | BIALLELIC, autosomal or pseudoautosomal |
- hepatomegaly and variable myopathy - Glycogen storage disease IXc, 613027 - Cirrhosis due to liver phosphorylase kinase deficiency - Glycogen Storage Disorders- Liver - Glycogen Storage Disease |
- Expert Review Green - UKGTN - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - Literature |
| High | Glycogen storage disease | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease IXc 613027 |
- NHS GMS - Wessex and West Midlands GLH - London North GLH - Expert Review Green |
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) - hepatomegaly and variable myopathy - Glycogen storage disease IXc, 613027 - Cirrhosis due to liver phosphorylase kinase deficiency - Glycogen Storage Disorders- Liver - Glycogen Storage Disease |
- Expert Review Green - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- hepatomegaly and variable myopathy - Glycogen Storage Disorders- Liver - Glycogen Storage Disease - Glycogen storage disease IXc, 613027 - Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) - Cirrhosis due to liver phosphorylase kinase deficiency |
- London North GLH - NHS GMS - Expert Review Green |
| Low | Intellectual disability - microarray and sequencing |
- Victorian Clinical Genetics Services |
||
| 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 |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Dilated Cardiomyopathy and conduction defects | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- South West GLH - Expert list - Illumina TruGenome Clinical Sequencing Services |
|
| Low | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- NHS GMS - South West GLH - Expert Review Red |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- INTELLECTUAL DISABILITY |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| High | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- INTELLECTUAL DISABILITY |
- Expert Review Green - DD-Gene2Phenotype |
| High | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Epilepsy, early-onset, with or without developmental delay, 618832 |
- Expert Review Green - Expert list |
| High | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 - Epilepsy, early-onset, with or without developmental delay, 618832 |
- Expert Review Green |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Neonatal cholestasis | BIALLELIC, autosomal or pseudoautosomal |
- Neonatal and Adult Cholestasis - Bile acid sythesis defect, congenital, 1 607765 |
- Expert Review Green - Victorian Clinical Genetics Services - UKGTN - Emory Genetics Laboratory |
| High | Cholestasis | BIALLELIC, autosomal or pseudoautosomal |
- Bile acid sythesis defect, congenital, 1 607765 - Neonatal and Adult Cholestasis |
- Expert Review Green - Other - NHS GMS |
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) - Bile acid synthesis defect, congenital, 1, 607765 |
- Expert Review Green - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) - Bile acid synthesis defect, congenital, 1, 607765 |
- London North GLH - NHS GMS - Expert Review Green |
| Low | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| High | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 |
- DD-Gene2Phenotype - Expert Review Green |
| Low | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Bile acid synthesis defect, congenital, 1, 607765 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| High | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172 |
- Expert Review Green - DD-Gene2Phenotype |
| High | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Generalized epilepsy with febrile seizures plus, type 9, 616172 |
- Wessex and West Midlands GLH - NHS GMS - NIHRBR-RD Consortium SPEED_v3.0_20170404 - Victorian Clinical Genetics Services - Expert Review - Expert Review Green |
| High | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
- Victorian Clinical Genetics Services - Expert Review Green |
| High | Severe Paediatric Disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Generalized epilepsy with febrile seizures plus, type 9, 616172 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Severe Paediatric Disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Generalized epilepsy with febrile seizures plus, type 9, 616172 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | Severe microcephaly | BIALLELIC, autosomal or pseudoautosomal |
- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism |
- Literature - Expert Review Amber |
| Medium | Growth failure in early childhood | BIALLELIC, autosomal or pseudoautosomal |
- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism |
- Literature - Expert Review Amber |
| Medium | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism |
- Expert Review Amber - Literature |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Inherited bleeding disorders | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 |
- Expert Review Green - BRIDGE Study Tier 1 Gene |
| High | Bleeding and platelet disorders | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 - Warfarin resistance, OMIM:122700 |
- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH |
| High | Undiagnosed metabolic disorders | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 |
- Expert Review Green - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 |
- Expert Review Green - London North GLH - NHS GMS |
| Low | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| High | Severe Paediatric Disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 - Warfarin resistance, 122700 |
- Next Generation Children Project - Expert Review Green - Expert list |
| High | Combined vitamin K-dependent clotting factor deficiency | BIALLELIC, autosomal or pseudoautosomal |
- NHS GMS - Expert Review Green |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Medium | Autism |
- Expert Review Amber - SFARI |
||
| High | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency 614923 |
- Expert Review Green - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - Literature |
| High | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency |
- Expert Review Green |
| High | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 - Intellectual disability |
- Victorian Clinical Genetics Services - Expert Review Green - Literature |
| High | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 - Global developmental delay - Intellectual disability - Seizures - Abnormality of vision - Feeding difficulties - Abnormality of the cardiovascular system - Autism |
- NHS GMS - Expert Review Green - Literature |
| High | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 - Global developmental delay - Intellectual disability - Seizures - Abnormality of vision - Feeding difficulties - Abnormality of the cardiovascular system - Autism |
- NHS GMS - Expert Review Green - Literature |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| Low | Early onset dementia (encompassing fronto-temporal dementia and prion disease) |
- Dementia |
- Expert Review Red - UKGTN |
|
| High | Adult onset neurodegenerative disorder | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030 |
- Wessex and West Midlands GLH - Yorkshire and North East GLH - NHS GMS - London North GLH - Expert Review Green |
| High | Amyotrophic lateral sclerosis/motor neuron disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal - Amyotrophic Lateral Sclerosis, Dominant |
- Expert Review Green - Expert - Illumina TruGenome Clinical Sequencing Services - UKGTN - Radboud University Medical Center, Nijmegen |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| High | Mitochondrial disorder with complex IV deficiency | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| High | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| High | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Primary pigmented nodular adrenocortical disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954 |
- Expert Review Green - Expert list |
| Confidence | Disease | Inheritance | Phenotype | Evidence |
|---|---|---|---|---|
| High | Renal tubulopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Renal glucosuria, 233100 |
- Expert Review Green - NHS GMS |
| Low | Intellectual disability - microarray and sequencing |
- Victorian Clinical Genetics Services |