CYP17A1

cytochrome P450 family 17 subfamily A member 1
OMIM: 609300
PanelMode of inheritanceDetails
2 panels
R-numbers: R146
Signed-off version 2.2
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
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
17-alpha-hydroxylase/17,20-lyase deficiency, 17,20-lyase deficiency, isolated