1. Genes and Genomic Entities
  2. ATP6V1B1

ATP6V1B1

ATPase H+ transporting V1 subunit B1
OMIM: 192132, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ATP6V1B1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    Phenotypes
    • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300
    • renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968
    Red ATP6V1B1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS
    Green ATP6V1B1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
    Green ATP6V1B1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300
    • renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968
    Green ATP6V1B1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Renal tubular acidosis with deafness, 267300
    • Distal Renal Tubular Acidosis with Progressive Nerve Deafness
    • Distal renal tubular acidosis
    Red ATP6V1B1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Renal tubular acidosis with deafness, 267300