Fetal anomalies
Gene: CYP17A1

CYP17A1 (cytochrome P450 family 17 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000148795
EnsemblGeneIds (GRCh37): ENSG00000148795
OMIM: 609300, Gene2Phenotype
CYP17A1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE Additional Gene List
Expert Review Green

Phenotypes

17-alpha-hydroxylase/17,20-lyase deficiency
17,20-lyase deficiency, isolated

OMIM

609300

Clinvar variants

Variants in CYP17A1

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency for gene: CYP17A1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CYP17A1 was added gene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List 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

Fetal anomalies Gene: CYP17A1