Differences in sex development
Gene: SRY

SRY (sex determining region Y)
EnsemblGeneIds (GRCh38): ENSG00000184895
EnsemblGeneIds (GRCh37): ENSG00000184895
OMIM: 480000, Gene2Phenotype
SRY is in 4 panels

5 reviews

Eleanor Williams (Genomics England Curator)

This 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

Created: 6 Jul 2022, 6:54 p.m.
Last Modified: 6 Jul 2022, 6:54 p.m.
Panel version: 2.62

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

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.

Created: 5 Apr 2017, 6:32 a.m.

Panel version: 1.5

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.

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

Panel version: 0.166

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

Created: 4 Feb 2016, 2:17 p.m.

Panel version: 0.40

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