1. Genes and Genomic Entities
  2. CYP17A1

CYP17A1

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

6 panels

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

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.11
Latest signed off version: v3.0 (30 Nov 2022)

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 1.68

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 1.21

Component of the following Super Panels:

  • Renal superpanel - broad

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

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    Green CYP17A1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 17-alpha-hydroxylase/17,20-lyase deficiency, 202110
    • 17,20-lyase deficiency, isolated, 202110