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Intellectual disability

Gene: SRGAP3

Amber List (moderate evidence)

SRGAP3 (SLIT-ROBO Rho GTPase activating protein 3)
EnsemblGeneIds (GRCh38): ENSG00000196220
EnsemblGeneIds (GRCh37): ENSG00000196220
OMIM: 606525, Gene2Phenotype
SRGAP3 is in 3 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3; SRGAP3

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Listed as a known ID gene in PMID:26350204, and SRGAP3 is an excellent candidate gene for the cause of ID in patients with distal 3p deletions. Plenty of papers suggesting causation but in all patients reported multiple genes (4 genes minimum) are deleted so not yet conclusive.
Created: 31 Oct 2017, 9:23 a.m.

Phenotypes
?3p- syndrome, MIM:613792 (includes intellectual disability)

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • 3p- syndrome, MIM:613792 (includes intellectual disability)
Tags
watchlist microdeletion
OMIM
606525
Clinvar variants
Variants in SRGAP3
Penetrance
Complete
Publications
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.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to SRGAP3. Panel: Intellectual disability Publications for gene SRGAP3 was set to ['24300292', ' 12195014', ' 19760623', ' 21082655', ' 26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SRGAP3 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SRGAP3 was created by ellenmcdonagh