Renal Tubulopathies and related disorders
Gene: ATP6V0A4
ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene disease association.
Age of onset is largely <4yo, predominantly <1yo. Presents with hyperchloraemic metabolic acidosis of varying severity. The condition is usually accompanied by nephrocalcinosis or nephrolithiasis. Other findings include hypokalaemia and normal serum calcium and phosphate levels, although osteomalacia or rickets may supervene in untreated cases.
Treatment: oral alkali replacement therapy, potassium chloride.Created: 22 Sep 2022, 7:31 a.m. | Last Modified: 22 Sep 2022, 7:31 a.m.
Panel Version: 0.73
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Renal tubular acidosis, distal, autosomal recessive, MIM#602722
- OMIM
- 605239
- Clinvar variants
- Variants in ATP6V0A4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Dec 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V0A4 were set to 10973252; 12414817 Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722