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Newborns main panel

Gene: ATP6V0A4

Green List (high evidence)
ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 4 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: 10973252 - 8 patients PMID: 16611712 - 21 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 3 with or without sensorineural hearing loss
OMIM
605239
Clinvar variants
Variants in ATP6V0A4
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: ATP6V0A4 were changed from Distal renal tubular acidosis 3, with or without sensorineural hearing loss to Distal renal tubular acidosis type 3 with or without sensorineural hearing loss

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss for gene: ATP6V0A4

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss for gene: ATP6V0A4

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 ATP6V0A4. Added phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss for gene: ATP6V0A4 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 3, with or without sensorineural hearing loss for gene: ATP6V0A4

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal