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| Deafness_IsolatedAndComplex v1.164 | ATP6V1B2 | Zornitza Stark Marked gene: ATP6V1B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.164 | ATP6V1B2 | Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.164 | ATP6V1B2 | Zornitza Stark Classified gene: ATP6V1B2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.164 | ATP6V1B2 | Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.161 | ATP6V1B2 |
Manny Jacobs 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 Added comment: 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: Literature |
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