1. Genes and Genomic Entities
  2. ATP6V0A4

ATP6V0A4

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

5 panels

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

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  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 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 4.6
    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
    Green ATP6V0A4 in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
    Red ATP6V0A4 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    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 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 4.17
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  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