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Intellectual disability

Gene: GAB3

Red List (low evidence)

GAB3 (GRB2 associated binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000160219
EnsemblGeneIds (GRCh37): ENSG00000160219
OMIM: 300482, Gene2Phenotype
GAB3 is in 1 panel

3 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Candidate gene for ID in PMID 26350204 (Grozeva et al, 2015). Not associated with a disease in OMIM or Gene2Phenotype. Could not find evidence in literature search for association with ID.
Created: 13 Dec 2017, 9:46 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
OMIM
300482
Clinvar variants
Variants in GAB3
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

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

Created

Ellen McDonagh (Genomics England Curator)

GAB3 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GAB3 was added to Intellectual disabilitypanel. Sources: Expert Review Red