Renal tubulopathies

Gene: ATP6V1B1

Green List (high evidence)

ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000116039
EnsemblGeneIds (GRCh37): ENSG00000116039
OMIM: 192132, Gene2Phenotype
ATP6V1B1 is in 10 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: ATP6V1B1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis with deafness MIM 267300

Variants in this GENE are reported as part of current diagnostic practice

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and OMIM all in agreement
Created: 10 May 2016, 10:10 a.m.

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Recent Moe paper implicates carriage of E161K in compensated dRTA and recurrent stone formation
Created: 28 Oct 2015, 7:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Both Illumina and expert sources suggest a recessive mode of inheritance.
Created: 8 Jul 2015, 1:22 p.m.

Details

Mode of Inheritance
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
OMIM
192132
Clinvar variants
Variants in ATP6V1B1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ATP6V1B1. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing

8 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

ATP6V1B1 was added to Renal tubular acidosispanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ATP6V1B1 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen