Differences in sex development
Gene: CYP17A1EnsemblGeneIds (GRCh38): ENSG00000148795
EnsemblGeneIds (GRCh37): ENSG00000148795
OMIM: 609300, Gene2Phenotype
CYP17A1 is in 5 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. Numerous variants reportedCreated: 12 Sep 2016, 8:48 a.m.
John Achermann (UCL Institute of Child Health)
Classic form has combined 17 alpha hydroxylase and 17,20-lyase activity presenting as absent virilization in 46,XY child, absent puberty and hypertension/hypokalaemia. Milder forms ahve hypospadias and milder adrenal effects. There are rare localized missense changes causing isolated 17,20 lyase deficiency where the genitalia are affected but adrenal intact.Created: 4 Feb 2016, 12:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Variable 46,XY undervirilization; absent of altered puberty; salt retention, hypertension and hypokalaemia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Other
- Phenotypes
-
- Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
- Endocrine disorders including disorders of sexual development (Emory)
- congenital adrenal hyperplasia
- 17,20-lyase deficiency, isolated 202110 and 17-alpha-hydroxylase/17,20-lyase deficiency 202110
- OMIM
- 609300
- Clinvar variants
- Variants in CYP17A1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Upload gene information
Sarah Leigh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing
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 Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CYP17A1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Endocrine disorders including disorders of sexual development (Emory); congenital adrenal hyperplasia;17,20-lyase deficiency, isolated 202110 and 17-alpha-hydroxylase/17,20-lyase deficiency 202110
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CYP17A1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); 17,20-lyase deficiency, isolated, 202110; Endocrine disorders including disorders of sexual development (Emory); congenital adrenal hyperplasia
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CYP17A1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); 17,20-lyase deficiency, isolated, 202110; Endocrine disorders including disorders of sexual development (Emory); congenital adrenal hyperplasia
Upload gene information
Sarah Leigh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Other
clearsources
Sarah Leigh (Genomics England Curator)CYP17A1All sources for gene: CYP17A1 were removed
Upload gene information
Sarah Leigh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Other
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CYP17A1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); 17,20-lyase deficiency, isolated, 202110; congenital adrenal hyperplasia; Endocrine disorders including disorders of sexual development (Emory)
Added New Source
Sarah Leigh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CYP17A1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN); 17,20-lyase deficiency, isolated; 17-alpha-hydroxylase/17,20-lyase deficiency
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Ellen McDonagh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Sources: Other
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CYP17A1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN); 17,20-lyase deficiency, isolated; 17-alpha-hydroxylase/17,20-lyase deficiency
Added New Source
Ellen McDonagh (Genomics England Curator)CYP17A1 was added to Disorders of sex developmentpanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)CYP17A1 was created by ellenmcdonagh