Disorders of sex development
Gene: CYB5A
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only two variants reported, however, strong functional and segregation data provided in PMID 22170710, plus expert reviewer (John Achermann, UCL Institute of Child Health) recommends "Green".Created: 13 Sep 2016, 10:15 a.m.
46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency. Rare but usually associated with methaemoglobinaemia.Created: 4 Feb 2016, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Publications for CYB5A were set to 22170710; 8168836
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
Phenotypes for gene CYB5A were set to 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency; Methemoglobinemia, type I, 250790
Phenotypes for gene CYB5A were set to 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency; Methemoglobinemia, type I, 250790
CYB5A was added to Disorders of sex developmentpanel. Sources: Expert Review,Other,Radboud University Medical Center, Nijmegen
CYB5AAll sources for gene: CYB5A were removed
CYB5A was added to Disorders of sex developmentpanel. Sources: Other,Radboud University Medical Center, Nijmegen
CYB5A was changed to CYB5A
CYB5A was added to Disorders of sex developmentpanel. Sources: Expert list,Other,Radboud University Medical Center, Nijmegen
CYB5A was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen,Other
CYB5A was added to Disorders of sex developmentpanel. Sources: Expert Review
CYB5A was created by John Achermann