Renal tubulopathies
Gene: ATP6V0A4
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
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
Comment when marking as ready: Known expert and OMIM all in agreementCreated: 10 May 2016, 10:09 a.m.
Both Illumina and expert sources suggest a recessive mode of inheritance.Created: 8 Jul 2015, 1:23 p.m.
Publications for gene: ATP6V0A4 were set to
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
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
Source NHS GMS was added to ATP6V0A4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing
ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Expert
ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen
ATP6V0A4 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
ATP6V0A4 was added to Renal tubular acidosispanel. Sources: UKGTN