BabyScreen+ newborn screening
Gene: ATP6V1B1

ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000116039
EnsemblGeneIds (GRCh37): ENSG00000116039
OMIM: 192132, Gene2Phenotype
ATP6V1B1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene disease association.

Age of onset is infancy to 6 years. Presents with hyperchloraemic metabolic acidosis of varying severity, including dehydration and FTT. 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, 7:35 a.m. | Last Modified: 22 Sep 2022, 7:35 a.m.

Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300

Created: 22 Sep 2022, 7:35 a.m.
Last Modified: 22 Sep 2022, 7:35 a.m.
Panel version: 0.138

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category A gene
BeginNGS

Phenotypes

Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300

Tags

treatable renal

OMIM

192132

Clinvar variants

Variants in ATP6V1B1

Penetrance

None

Panels with this gene