Congenital adrenal hypoplasia
Gene: CYP17A1
CYP17A1 (cytochrome P450 family 17 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000148795
EnsemblGeneIds (GRCh37): ENSG00000148795
OMIM: 609300, Gene2Phenotype
CYP17A1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000148795
EnsemblGeneIds (GRCh37): ENSG00000148795
OMIM: 609300, Gene2Phenotype
CYP17A1 is in 5 panels
1 review
John Achermann (UCL Institute of Child Health)
Rarely presents with classic adrenal inusufficiency. Associated with salt retention and ultimately hypertension rather than salt loss. Affects sex steroid production in both sexes. Should be diagnosable on biochemistry but could potentially get confused with adrenal hypoplasia if limited assessment undertaken.Created: 4 Feb 2016, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
- hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess
- OMIM
- 609300
- Clinvar variants
- Variants in CYP17A1
- Penetrance
- Complete
- Publications
-
- 24593890 (article in Spanish)
- Panels with this gene
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
2 Feb 2017, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CYP17A1 were set to Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency;hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess
2 Feb 2017, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CYP17A1 were set to 24593890 (article in Spanish)
3 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CYP17A1 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN