Differences in sex development
Gene: CYB5AEnsemblGeneIds (GRCh38): ENSG00000166347
EnsemblGeneIds (GRCh37): ENSG00000166347
OMIM: 613218, Gene2Phenotype
CYB5A is in 2 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
John Achermann (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency
- Methemoglobinemia, type I, 250790
- OMIM
- 613218
- Clinvar variants
- Variants in CYB5A
- Penetrance
- Complete
- Publications
- 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 Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for CYB5A were set to 22170710; 8168836
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CYB5A were set to 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency; Methemoglobinemia, type I, 250790
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CYB5A were set to 46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency; Methemoglobinemia, type I, 250790
Upload gene information
Sarah Leigh (Genomics England Curator)CYB5A was added to Disorders of sex developmentpanel. Sources: Expert Review,Other,Radboud University Medical Center, Nijmegen
clearsources
Sarah Leigh (Genomics England Curator)CYB5AAll sources for gene: CYB5A were removed
Upload gene information
Sarah Leigh (Genomics England Curator)CYB5A was added to Disorders of sex developmentpanel. Sources: Other,Radboud University Medical Center, Nijmegen
Changed Gene Name
Sarah Leigh (Genomics England Curator)CYB5A was changed to CYB5A
Upload gene information
Sarah Leigh (Genomics England Curator)CYB5A was added to Disorders of sex developmentpanel. Sources: Expert list,Other,Radboud University Medical Center, Nijmegen
Upload gene information
Sarah Leigh (Genomics England Curator)CYB5A was added to Disorders of sex developmentpanel. Sources: Radboud University Medical Center, Nijmegen,Other
Added New Source
John Achermann (UCL Institute of Child Health)CYB5A was added to Disorders of sex developmentpanel. Sources: Expert Review
Created
John Achermann (UCL Institute of Child Health)CYB5A was created by John Achermann