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| Fetal anomalies v4.175 | ATP6V1B2 | Achchuthan Shanmugasundram Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 to Zimmermann-Laband syndrome 2, OMIM:616455; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ATP6V1B2 | Achchuthan Shanmugasundram commented on gene: ATP6V1B2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ATP6V1B2 | Natalie Bibb reviewed gene: ATP6V1B2: Rating: RED; Mode of pathogenicity: ; Publications: 28396750, 24913193, 25915598; Phenotypes: Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480, Zimmermann-Laband syndrome 2, OMIM:616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ATP6V1B2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ATP6V1B2. Source Expert Review Red was added to ATP6V1B2. Mode of inheritance for gene ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 for gene: ATP6V1B2 Publications for gene: ATP6V1B2 were updated from to 28396750; 24913193; 25915598 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | ATP6V1B2 | Rebecca Foulger commented on gene: ATP6V1B2: DDG2P rating in original PAGE list: Probable for ZIMMERMANN-LABAND SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ATP6V1B2 | Rebecca Foulger reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ATP6V1B2 |
Rebecca Foulger gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME |
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