Disorders of sex development

Gene: SRY

Green List (high evidence)

SRY (sex determining region Y)
EnsemblGeneIds (GRCh38): ENSG00000184895
EnsemblGeneIds (GRCh37): ENSG00000184895
OMIM: 480000, Gene2Phenotype
SRY is in 6 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.

Ellen McDonagh (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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 unknown
Created: 12 Sep 2016, 2:05 p.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

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

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Testicular dysgenesis/Swyers syndrome
  • 46XX sex reversal 1 400045
  • 46XY sex reversal 1 400044
Tags
y-chromosome
OMIM
480000
Clinvar variants
Variants in SRY
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SRY were set to Testicular dysgenesis/Swyers syndrome; 46XX sex reversal 1 400045; 46XY sex reversal 1 400044

12 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SRY were set to 46XX sex reversal 1 400045; 46XY sex reversal 1 400044

12 Sep 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SRY were set to 1415266; 7987333

12 Sep 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SRY was changed to Other - please specifiy in evaluation comments

20 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

SRY was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

20 May 2016, Gel status: 3

clearsources

Sarah Leigh (Genomics England Curator)

SRYAll sources for gene: SRY were removed

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SRY was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SRY was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SRY was added to Disorders of sex developmentpanel. Source: Other

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene SRY were set to Gender Assignment 13 Gene Panel (UKGTN); 46XX sex reversal 1; 46XY sex reversal 1; Turners Syndrome

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SRY was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing,Other

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SRY was created by ellenmcdonagh