Differences of Sex Development
Gene: CYP19A1

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

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Lin 2007: (SNPs) as hom miss, inframe dels reported in Aromatase deficiency. R435C had ~1% aromatase activity remained, F234del <20% activity remained and exon5del was completely inactive.

Shozu 2014: (CNVs) recombinations of one CYP19A1 allele which lead to gene amplification and adoption of a novel promoter have been identified as a gain of function mechenism responsible for aromatase excess syndrome.
Created: 3 Mar 2021, 6:26 a.m. | Last Modified: 3 Mar 2021, 6:26 a.m.

Panel Version: 0.192

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aromatase deficiency (MIM#613546), AR; Aromatase excess syndrome (MIM#139300), AD

Publications

Created: 3 Mar 2021, 6:26 a.m.
Last Modified: 3 Mar 2021, 6:26 a.m.
Panel version: 0.192

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Aromatase deficiency (MIM#613546), AR
Aromatase excess syndrome (MIM#139300), AD

Tags

SV/CNV

OMIM

107910

Clinvar variants

Variants in CYP19A1

Penetrance

None

Publications

Panels with this gene