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Intellectual disability

Gene: SRY

Amber List (moderate evidence)

SRY (sex determining region Y)
EnsemblGeneIds (GRCh38): ENSG00000184895
EnsemblGeneIds (GRCh37): ENSG00000184895
OMIM: 480000, Gene2Phenotype
SRY is in 5 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Following discussion with the clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark
Created: 17 Aug 2020, 10:18 a.m. | Last Modified: 17 Aug 2020, 10:18 a.m.
Panel Version: 3.254

Zornitza Stark (Australian Genomics)

Red List (low evidence)

No link to ID.
Created: 29 Feb 2020, 12:36 a.m. | Last Modified: 29 Feb 2020, 12:36 a.m.
Panel Version: 3.3

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 8:34 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: changed MOI from X-linked. 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: 22 Sep 2017, 1:27 p.m.

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Amber
Phenotypes
  • 46XY SEX REVERSAL 1
Tags
y-chromosome
OMIM
480000
Clinvar variants
Variants in SRY
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

22 Sep 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

22 Sep 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SRY was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SRY was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene