Primary ovarian insufficiency

Gene: CYP19A1

Green List (high evidence)

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aromatase deficiency 613546
OMIM
107910
Clinvar variants
Variants in CYP19A1
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)

CYP19A1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

31 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

CYP19A1 was created by arianna