Primary ovarian insufficiency
Gene: CYP19A1

CYP19A1 (cytochrome P450 family 19 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000137869
EnsemblGeneIds (GRCh37): ENSG00000137869
OMIM: 107910, Gene2Phenotype
CYP19A1 is in 3 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Associated with DSD and POI
Created: 9 Jun 2017, 2:15 p.m.

Created: 9 Jun 2017, 2:15 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Associated with the phenotype in OMIM. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Some non classic phenotypes have been described (PMID 17164303)
Created: 31 May 2017, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatase deficiency 613546

Created: 31 May 2017, 8:07 a.m.

Panel version: 0.100

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Aromatase deficiency, OMIM:613546

OMIM

107910

Clinvar variants

Variants in CYP19A1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CYP19A1 were changed from Aromatase deficiency 613546 to Aromatase deficiency, OMIM:613546

31 May 2017, Gel status: 4