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Differences in sex development

Gene: ATP6V0A4

Red List (low evidence)
ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
EnsemblGeneIds (GRCh38): ENSG00000105929
EnsemblGeneIds (GRCh37): ENSG00000105929
OMIM: 605239, Gene2Phenotype
ATP6V0A4 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Ten variants reported, however, this phenotype is not relevant to this disorder according to John Achermann (UCL Institute of Child Health)
Created: 13 Sep 2016, 7:32 a.m.
Comment on list classification: Phenotype not relevant to this panel
Created: 13 Sep 2016, 7:29 a.m.
Created: 13 Sep 2016, 7:29 a.m.

Panel version: 0.177

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

I dont think this is revelant to DSD - seems to cause renal distal tubular acidosis
Created: 4 Feb 2016, 12:10 p.m.
Created: 4 Feb 2016, 12:10 p.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
OMIM
605239
Clinvar variants
Variants in ATP6V0A4
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Jul 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATP6V0A4 were changed from Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Renal tubular acidosis, distal, autosomal recessive, 602722 to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ATP6V0A4 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Renal tubular acidosis, distal, autosomal recessive, 602722

20 May 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal

20 May 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ATP6V0A4 was set to Unknown

20 May 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal

20 May 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ATP6V0A4 was set to Unknown

20 May 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal

20 May 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ATP6V0A4 was set to Unknown

20 May 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

ATP6V0A4 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATP6V0A4 was created by ellenmcdonagh

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP6V0A4 was added to Disorders of sex developmentpanel. Sources: UKGTN