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Newborns main panel

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 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 16611712 - 10 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss
OMIM
192132
Clinvar variants
Variants in ATP6V1B1
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATP6V1B1 were changed from Distal renal tubular acidosis 2 with progressive sensorineural hearing loss to Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss for gene: ATP6V1B1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss for gene: ATP6V1B1

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ATP6V1B1. Added phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss for gene: ATP6V1B1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss for gene: ATP6V1B1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal