Renal tubulopathies

Gene: ATP6V0A4

Green List (high evidence)

ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 6 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: ATP6V0A4; 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
Autosomal recessive distal renal tubular acidosis MIM 602722

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

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile onset distal rta with nephrocalcinosis and/or progressive sensorineural hearing loss

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, 10:09 a.m.

Ellen McDonagh (Genomics England Curator)

Both Illumina and expert sources suggest a recessive mode of inheritance.
Created: 8 Jul 2015, 1:23 p.m.

Details

Mode of Inheritance
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, Recessive
  • Renal tubular acidosis, distal, autosomal recessive, 602722
  • Distal renal tubular acidosis
  • Autosomal recessive distal renal tubular acidosis
OMIM
605239
Clinvar variants
Variants in ATP6V0A4
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ATP6V0A4 were changed from Distal Renal Tubular Acidosis, Recessive; Renal tubular acidosis, distal, autosomal recessive, 602722; Distal renal tubular acidosis to Distal Renal Tubular Acidosis, Recessive; Renal tubular acidosis, distal, autosomal recessive, 602722; Distal renal tubular acidosis; Autosomal recessive distal renal tubular acidosis

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ATP6V0A4. 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)

ATP6V0A4 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)

ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ATP6V0A4 was added to Renal tubular acidosispanel. Sources: UKGTN