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| Deafness_IsolatedAndComplex v1.234 | ATP6V1B2 |
Chirag Patel Source Literature was removed from ATP6V1B2. Source Expert list was added to ATP6V1B2. Mode of inheritance for gene ATP6V1B2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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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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