Renal tubulopathies
Gene: ATP6V0A4EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 4 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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 providedCreated: 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)
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 agreementCreated: 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 3, with or without sensorineural hearing loss, OMIM:602722
- OMIM
- 605239
- Clinvar variants
- Variants in ATP6V0A4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATP6V0A4 were set to
Set Phenotypes
Arina Puzriakova (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; Autosomal recessive distal renal tubular acidosis to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
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
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)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Expert
Added New Source
GEL ()ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()ATP6V0A4 was added to Renal tubular acidosispanel. Sources: UKGTN