1. Genes and Genomic Entities
  2. CYP17A1

CYP17A1

cytochrome P450 family 17 subfamily A member 1
OMIM: 609300, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red CYP17A1 in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • UKGTN
Phenotypes
  • Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
  • hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess
Green CYP17A1 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 17-alpha-hydroxylase, 17,20-lyase deficiency 202110
Green CYP17A1 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • 17,20-lyase deficiency, isolated 202110
  • 17-alpha-hydroxylase/17,20-lyase deficiency 202110
Green CYP17A1 in Differences in sex development


Level 2: Endocrinology
Version 4.14
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • 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
Green CYP17A1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency
  • 17,20-lyase deficiency, isolated