1. Genes and Genomic Entities
  2. ATP6V1B2

ATP6V1B2

ATPase H+ transporting V1 subunit B2
OMIM: 606939, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red ATP6V1B2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Zimmermann-Laband syndrome 2, OMIM:616455
  • Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480
Green ATP6V1B2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ZIMMERMANN-LABAND SYNDROME
    Green ATP6V1B2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480
    • Zimmermann-Laband syndrome 2, OMIM:616455
    Green ATP6V1B2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • ZIMMERMANN-LABAND SYNDROME