Deafness_IsolatedAndComplex
Gene: ATP6V1B2EnsemblGeneIds (GRCh38): ENSG00000147416
EnsemblGeneIds (GRCh37): ENSG00000147416
OMIM: 606939, Gene2Phenotype
ATP6V1B2 is in 5 panels
1 review
Manny Jacobs (Victorian Clinical Genetics Services)
Pathogenic variation in this gene is associated with a group of syndromes with clinical overlap, though deafness is a common feature.
PMID: 32873933; 28396750 - recurrent truncating variant (NM_001693.4:c.1516C>T; p.Arg506*) with a supporting mouse model (PMID: 34746137).
Sources: LiteratureCreated: 27 Sep 2023, 5:27 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Zimmermann-Laband syndrome 2, MIM# 616455
- Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480
- Epileptic encephalopathy
- OMIM
- 606939
- Clinvar variants
- Variants in ATP6V1B2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6v1b2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp6v1b2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Manny Jacobs (Victorian Clinical Genetics Services)gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: ATP6V1B2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP6V1B2 were set to PMID: 24913193; 28396750; 34746137; 32873933; 25915598 Phenotypes for gene: ATP6V1B2 were set to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy Review for gene: ATP6V1B2 was set to GREEN