Groopman et al 2019 - Genes with diagnostic variants

Gene: ATP6V1B1

Red List (low evidence)

ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000116039
EnsemblGeneIds (GRCh37): ENSG00000116039
OMIM: 192132, Gene2Phenotype
ATP6V1B1 is in 8 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: ATP6V1B1; Inhertiance: AR; Clinical diagnosis: Tubulointerstitial disease; Genetic diagnosis: Renal tubular acidosis with deafness; OMIM phenotype MIM no.: 267300; Number of cases: 1 (compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 267300
  • Renal tubular acidosis with deafness
OMIM
192132
Clinvar variants
Variants in ATP6V1B1
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to ATP6V1B1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to Tubulointerstitial disease; MIM 267300; Renal tubular acidosis with deafness