CYP17A1

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CYP17A1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
  • treatable

Green CYP17A1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
  • treatable

Green CYP17A1 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110

Green CYP17A1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 17,20-lyase deficiency, isolated, 202110 (3)

Green CYP17A1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • 17-alpha-hydroxylase, 17,20-lyase deficiency 202110
Tags
  • treatable

Green CYP17A1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110

Green CYP17A1 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 17,20-lyase deficiency, isolated, 202110 (3)

Green CYP17A1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • 17,20-lyase deficiency, isolated , MIM#202110
Tags
  • treatable
  • endocrine

Green CYP17A1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110

    Green CYP17A1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 17,20-lyase deficiency, isolated, 202110 (3)