Genomics England
GMS Panels
Panels
Genes and Entities

CYP17A1

cytochrome P450 family 17 subfamily A member 1
OMIM: 609300
PanelMode of inheritanceDetails
2 panels
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
17-alpha-hydroxylase/17,20-lyase deficiency, 17,20-lyase deficiency, isolated