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Prepair 1000+

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

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: 12 Dec 2024, 2:14 a.m. | Last Modified: 12 Dec 2024, 2:14 a.m.
Panel Version: 1.688

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722

Publications

Created: 12 Dec 2024, 2:14 a.m.
Last Modified: 12 Dec 2024, 2:14 a.m.
Panel version: 1.688

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722
OMIM
605239
Clinvar variants
Variants in ATP6V0A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: atp6v0a4 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ATP6V0A4 were changed from Renal tubular acidosis, distal, autosomal recessive, 602722 (3) to Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ATP6V0A4 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)