Primary ovarian insufficiency

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 5 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

More often associated with Disorders of sexual development
Created: 9 Jun 2017, 2 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Associated with the phenotype, and more than 3 mutations reported
Created: 31 May 2017, 7:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 17-alpha-hydroxylase, 17,20-lyase deficiency 202110
OMIM
609300
Clinvar variants
Variants in CYP17A1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

31 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

CYP17A1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

31 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

CYP17A1 was created by arianna