Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: CYP17A1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Primary amenorrhoea is a feature.
Created: 13 Dec 2020, 10:16 p.m. | Last Modified: 13 Dec 2020, 10:16 p.m.

Panel Version: 0.173

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 13 Dec 2020, 10:16 p.m.
Last Modified: 13 Dec 2020, 10:16 p.m.
Panel version: 0.173

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

17-alpha-hydroxylase, 17,20-lyase deficiency 202110

Tags

treatable

OMIM

609300

Clinvar variants

Variants in CYP17A1

Penetrance

None

Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CYP17A1.

13 Dec 2020, 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).

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYP17A1 was added gene: CYP17A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase, 17,20-lyase deficiency 202110

Primary Ovarian Insufficiency_Premature Ovarian Failure Gene: CYP17A1