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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. CYP19A1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can present with amenorrhoea, though typically causes DSD.
Created: 13 Dec 2020, 10:19 p.m. | Last Modified: 13 Dec 2020, 10:19 p.m.
Panel Version: 0.173

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatase deficiency, MIM# 613546

Publications

Created: 13 Dec 2020, 10:19 p.m.
Last Modified: 13 Dec 2020, 10:19 p.m.
Panel version: 0.173

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Aromatase deficiency 613546
OMIM
107910
Clinvar variants
Variants in CYP19A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp19a1 has been classified as Green List (High Evidence).

13 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP19A1 were set to

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYP19A1 was added gene: CYP19A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546