Disorders of sex development
Gene: CYP17A1
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.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reportedCreated: 12 Sep 2016, 8:48 a.m.
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
CYP17A1 was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
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
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
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
CYP17A1 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Other
CYP17A1All sources for gene: CYP17A1 were removed
CYP17A1 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Other
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)
CYP17A1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
CYP17A1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
CYP17A1 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
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
Model of inheritance for gene CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
CYP17A1 was added to Disorders of sex developmentpanel. Sources: Other
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
CYP17A1 was added to Disorders of sex developmentpanel. Sources: UKGTN
CYP17A1 was created by ellenmcdonagh