1. Panels
  2. Renal Tubulopathies and related disorders
  3. ATP6V1C2
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Renal Tubulopathies and related disorders

Gene: ATP6V1C2

Red List (low evidence)
ATP6V1C2 (ATPase H+ transporting V1 subunit C2)
EnsemblGeneIds (GRCh38): ENSG00000143882
EnsemblGeneIds (GRCh37): ENSG00000143882
ATP6V1C2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, limited functional data.
Sources: Literature
Created: 28 Jan 2020, 4 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Distal renal tubular acidosis

Publications

Created: 28 Jan 2020, 4 a.m.

Panel version: Imported from Renal Tubulopathies_KidGen panel version 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review Red
  • Literature
Phenotypes
  • Distal renal tubular acidosis
Clinvar variants
Variants in ATP6V1C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6V1C2 was added gene: ATP6V1C2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Red Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP6V1C2 were set to 31959358 Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis