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Gene: CYP17A1

Green List (high evidence)
CYP17A1 (cytochrome P450 family 17 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000148795
EnsemblGeneIds (GRCh37): ENSG00000148795
OMIM: 609300, Gene2Phenotype
CYP17A1 is in 10 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association. Congenital onset. More than 100 families reported. Mechanism impacts hormone production in gonads and adrenal glands. Phenotype typically includes hypertension, low blood potassium, and abnormal development of sexual characteristics including genitalia (disorder of sexual development) in both males and females. Phenotypic spectrum of severity for those affected is variable.
Created: 6 Aug 2024, 10:24 p.m. | Last Modified: 6 Aug 2024, 10:25 p.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110

Publications

Created: 6 Aug 2024, 10:24 p.m.
Last Modified: 6 Aug 2024, 10:25 p.m.
Panel version: 1.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110
OMIM
609300
Clinvar variants
Variants in CYP17A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp17a1 has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP17A1 were changed from 17,20-lyase deficiency, isolated, 202110 (3) to 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP17A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes 17,20-lyase deficiency, isolated, 202110 (3) for gene: CYP17A1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP17A1 was added gene: CYP17A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)