Fetal anomalies
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

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Postnatal presentation (pre- or peripubertal onset)

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.
Lin et al reported 4 patients (46,XX) from 3 kindreds with variable degrees of androgenization and pubertal failure who were homozygous or compound heterozygous for mutations in the CYP19A1 gene. Functional studies revealed low residual aromatase activity in the patients in whom breast development occurred, despite significant androgenization in utero.

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 mechanism responsible for aromatase excess syndrome. Multiple families identified.
Created: 14 Feb 2022, 3:31 a.m. | Last Modified: 14 Feb 2022, 3:31 a.m.

Panel Version: 0.3400

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2022, 3:31 a.m.
Last Modified: 14 Feb 2022, 3:31 a.m.
Panel version: 0.3400

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

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

OMIM

107910

Clinvar variants

Variants in CYP19A1

Penetrance

None

Publications

Panels with this gene