Disorders of sex development
Gene: AKR1C2Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least four variants reported, however, expert reviewer does not consider this gene to be have sufficient evidence.Created: 13 Sep 2016, 9:42 a.m.
Comment on phenotypes: Also associated with Obesity, hyperphagia, and developmental delay (OMIM)Created: 13 Sep 2016, 9:40 a.m.
May look like isolated 17,20 lyase deficiency and represents a defect in the "backdoor" pathway to testosterone biosynthesis but still unclear about the significance in humans and also the role of AKR1C4 on the phenotype.Created: 4 Feb 2016, 2:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Variable undervirilization of 46,XY child.
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for AKR1C2 were set to 46XY sex reversal 8 614279
AKR1C2 was added to Disorders of sex developmentpanel. Sources: Expert list,Other,Radboud University Medical Center, Nijmegen
AKR1C2All sources for gene: AKR1C2 were removed
AKR1C2 was added to Disorders of sex developmentpanel. Sources: Other,Radboud University Medical Center, Nijmegen
AKR1C2All sources for gene: AKR1C2 were removed
AKR1C2 was added to Disorders of sex developmentpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Other
Phenotypes for gene AKR1C2 were set to 46XY sex reversal 8, 614279; Obesity, hyperphagia, and developmental delay; 46,XY under androgenization with pattern similar to isolated 17,20-lyase deficiency
This proposed gene was validated and added to this panel
AKR1C2 was added to Disorders of sex developmentpanel. Sources: Expert Review
AKR1C2 was created by John Achermann