Disorders of sex development
Gene: CYP19A1
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.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least ten variants reportedCreated: 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 monogenicCreated: 12 Sep 2016, 9:01 a.m.
Comment on phenotypes: Aromatase excess syndrome 139300 is not associated with this panelCreated: 12 Sep 2016, 8:56 a.m.
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
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 10:39 a.m.
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
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CYP19A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for CYP19A1 were set to Gender Assignment Gene Panel (UKGTN); Endocrine disorders including disorders of sexual development; Aromatase deficiency, 613546
Phenotypes for gene CYP19A1 were set to Gender Assignment Gene Panel (UKGTN); Endocrine disorders including disorders of sexual development; Aromatase deficiency, 613546; Aromatase excess syndrome, 139300
CYP19A1 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Other
CYP19A1All sources for gene: CYP19A1 were removed
CYP19A1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
CYP19A1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
CYP19A1 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Model of inheritance for gene CYP19A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
CYP19A1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
CYP19A1 was created by ellenmcdonagh