1. Genes and Genomic Entities
  2. ATP6V0A4

ATP6V0A4

ATPase H+ transporting V0 subunit a4
OMIM: 605239, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ATP6V0A4 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    Phenotypes
    • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
    Red ATP6V0A4 in Differences in sex development


    Level 2: Endocrinology
    Version 4.14
    Latest signed off version: v4.5 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
    • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
    Red ATP6V0A4 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 Not set
    Sources
    • UKGTN
    Phenotypes
    • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
    Green ATP6V0A4 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722