Differences in sex development
Gene: AKR1C2EnsemblGeneIds (GRCh38): ENSG00000151632
EnsemblGeneIds (GRCh37): ENSG00000151632
OMIM: 600450, Gene2Phenotype
AKR1C2 is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
John Achermann (UCL Institute of Child Health)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Other
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 46XY sex reversal 8 614279
- OMIM
- 600450
- Clinvar variants
- Variants in AKR1C2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for AKR1C2 were set to 46XY sex reversal 8 614279
Upload gene information
Sarah Leigh (Genomics England Curator)AKR1C2 was added to Disorders of sex developmentpanel. Sources: Expert list,Other,Radboud University Medical Center, Nijmegen
clearsources
Sarah Leigh (Genomics England Curator)AKR1C2All sources for gene: AKR1C2 were removed
Upload gene information
Sarah Leigh (Genomics England Curator)AKR1C2 was added to Disorders of sex developmentpanel. Sources: Other,Radboud University Medical Center, Nijmegen
clearsources
Sarah Leigh (Genomics England Curator)AKR1C2All sources for gene: AKR1C2 were removed
Upload gene information
Sarah Leigh (Genomics England Curator)AKR1C2 was added to Disorders of sex developmentpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Other
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
John Achermann (UCL Institute of Child Health)AKR1C2 was added to Disorders of sex developmentpanel. Sources: Expert Review
Created
John Achermann (UCL Institute of Child Health)AKR1C2 was created by John Achermann