Disorders of sex development
Gene: ATP6V0A4Comment 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 panelCreated: 13 Sep 2016, 7:29 a.m.
I dont think this is revelant to DSD - seems to cause renal distal tubular acidosisCreated: 4 Feb 2016, 12:10 p.m.
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
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene ATP6V0A4 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN);Renal tubular acidosis, distal, autosomal recessive, 602722
Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ATP6V0A4 was set to Unknown
Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ATP6V0A4 was set to Unknown
Model of inheritance for gene ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ATP6V0A4 was set to Unknown
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
ATP6V0A4 was created by ellenmcdonagh
ATP6V0A4 was added to Disorders of sex developmentpanel. Sources: UKGTN