Differences in 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 3 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least ten variants reported
Created: 12 Sep 2016, 9:02 a.m.

Comment on mode of inheritance: Aromatase deficiency 613546 is biallelic. The phenotype Aromatase excess syndrome 139300, which is not relevant to this panel is monogenic
Created: 12 Sep 2016, 9:01 a.m.

Comment on phenotypes: Aromatase excess syndrome 139300 is not associated with this panel
Created: 12 Sep 2016, 8:56 a.m.

Created: 12 Sep 2016, 8:56 a.m.

Panel version: 0.154

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Very rare cause of virilization of 46,XX child. May have maternal virlization in end of pregancy, but not invariable. Usually absent puberty but mild forms may have partial pubertal development. Very delayed bone age,often cystic ovaries and elevated FSH/LH. Difficult to diagnose biochemically in mid chidlhood.
Created: 4 Feb 2016, 12:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Virilization of 46,XX fetus presenting with atypical genitalia; absent or attenuated puberty; may have maternal virilization (eg acne, hair growth) in last trimester of pregnancy, but variable

Created: 4 Feb 2016, 12:25 p.m.

Panel version: 0.40

Ellen McDonagh (Genomics England Curator)

Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.
Created: 11 Jan 2016, 10:39 a.m.

Created: 11 Jan 2016, 10:39 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Other
Illumina TruGenome Clinical Sequencing Services

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 Gender Assignment Gene Panel (UKGTN); Endocrine disorders including disorders of sexual development; Aromatase deficiency, 613546 to Aromatase deficiency, OMIM:613546

21 Dec 2016, Gel status: 4