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Intellectual disability

Gene: GLRA2

Red List (low evidence)

GLRA2 (glycine receptor alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000101958
EnsemblGeneIds (GRCh37): ENSG00000101958
OMIM: 305990, Gene2Phenotype
GLRA2 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM or G2P. At least four missense variants and a micro-deletion reported in autism disorder syndrome cases.

Grozeva 2015 PMID 26350204 reports GLRA2 as a candidate ID gene
Created: 5 Mar 2018, 1:51 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
Phenotypes
  • autism spectrum disorder
Tags
Autism Spectrum Disorder
OMIM
305990
Clinvar variants
Variants in GLRA2
Penetrance
Complete
Publications
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.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene GLRA2 was set to ['28588452', '26370147', '29057625']

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)

GLRA2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GLRA2 was created by ellenmcdonagh