CYP17A1

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green CYP17A1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

1 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 1.4216

1 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 1.18

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 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 0.111

    0 reviews 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 0.394

    1 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 1.522

    1 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 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110

    Green CYP17A1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.147

    2 reviews 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 1.25

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews 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 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110

    Green CYP17A1 in Infertility and Recurrent Pregnancy Loss


    Version 1.78

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

    Green CYP17A1 in Congenital adrenal hyperplasia

    Level 3: Adrenal disorders
    Level 2: Endocrine disorders
    Version 0.8

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

    Green CYP17A1 in Adrenal insufficiency

    Level 3: Adrenal disorders
    Level 2: Endocrine disorders
    Version 0.57

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