Disorders of sex development
Gene: SRYThis gene has the Y chromosome tag to indicate this gene is encoded on the Y chromosome, which is currently not included in the Bioinformatics tiering pipeline.Created: 6 Jul 2022, 6:54 p.m. | Last Modified: 6 Jul 2022, 6:54 p.m.
Panel Version: 2.62
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.
Added Y chromosome tag to indicate this gene is encoded on the Y chromosome, which is currently not included in the Bioinformatics tiering pipeline.Created: 5 Apr 2017, 6:32 a.m.
Phenotypes from UKGTN and OMIM.Created: 11 Jan 2016, 10:41 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.Created: 12 Sep 2016, 2:35 p.m.
Comment on mode of inheritance: Variants arise either as from de novo change or are classified as MOI unknownCreated: 12 Sep 2016, 2:05 p.m.
Mutations or deletions of SRY cause about 5-10% of complete gonadal dysgenesis (Swyers syndrome) presenting with absent puberty in 46,XY girl. Y-chromosomal inheritance, so usually do novo other than some mild variably penetrant changes that may come through father. High tumor risk.Created: 4 Feb 2016, 2:17 p.m.
Mode of inheritance
Other
Phenotypes
Testicular dysgenesis/Swyers syndrome
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SRY were set to Testicular dysgenesis/Swyers syndrome; 46XX sex reversal 1 400045; 46XY sex reversal 1 400044
Phenotypes for SRY were set to 46XX sex reversal 1 400045; 46XY sex reversal 1 400044
Publications for SRY were set to 1415266; 7987333
Mode of inheritance for SRY was changed to Other - please specifiy in evaluation comments
SRY was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
SRYAll sources for gene: SRY were removed
Phenotypes for gene SRY were set to Gender Assignment Gene Panel (UKGTN); 46XX sex reversal 1, 400045; 46XY sex reversal 1 400044; Y-Chromosome: SRY Analysis (Emory); Turners Syndrome
SRY was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
SRY was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
SRY was added to Disorders of sex developmentpanel. Source: Other
Phenotypes for gene SRY were set to Gender Assignment 13 Gene Panel (UKGTN); 46XX sex reversal 1; 46XY sex reversal 1; Turners Syndrome
SRY was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing,Other
SRY was created by ellenmcdonagh