ATP6V1B1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ATP6V1B1 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.36
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert
    Phenotypes
    • distal renal tubular acidosis
    • Renal tubular acidosis with deafness 267300

    Red ATP6V1B1 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green ATP6V1B1 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • hearing loss
    • Distal Renal Tubular Acidosis with Progressive Nerve Deafness
    • Renal tubular acidosis with deafness, 267300

    Green ATP6V1B1 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.62
    Latest signed off version: v2.23 (16 Oct 2020)

    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
    • 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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Renal tubular acidosis with deafness, 267300

    Red ATP6V1B1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Tubulointerstitial disease
    • MIM 267300
    • Renal tubular acidosis with deafness

    Green ATP6V1B1 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Renal tubular acidosis with deafness, 267300