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  3. ATP6V1B1
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Renal Tubulopathies and related disorders

Gene: ATP6V1B1

Green List (high evidence)
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)

Over 50 families reported.

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: 25 Sep 2020, 10:11 a.m. | Last Modified: 22 Sep 2022, 7:36 a.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 25 Sep 2020, 10:11 a.m.
Last Modified: 22 Sep 2022, 7:36 a.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
OMIM
192132
Clinvar variants
Variants in ATP6V1B1
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: ATP6V1B1 was added gene: ATP6V1B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1B1 were set to 12414817; 9916796; 18798332; 16611712 Phenotypes for gene: ATP6V1B1 were set to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300