BabyScreen+ newborn screening
Gene: ATP6V0A4

ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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: 22 Sep 2022, 7:30 a.m. | Last Modified: 22 Sep 2022, 7:30 a.m.

Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis, distal, autosomal recessive, MIM#602722

Created: 22 Sep 2022, 7:30 a.m.
Last Modified: 22 Sep 2022, 7:30 a.m.
Panel version: 0.138

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BeginNGS

Phenotypes

Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722

Tags

treatable renal

OMIM

605239

Clinvar variants

Variants in ATP6V0A4

Penetrance

None

Panels with this gene