Genetic Epilepsy
Gene: GRIA3

GRIA3 (glutamate ionotropic receptor AMPA type subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000125675
EnsemblGeneIds (GRCh37): ENSG00000125675
OMIM: 305915, Gene2Phenotype
GRIA3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

New manuscript describing ~40 individuals with variants in GRIA3, including affected females. Some variants demonstrated to be LoF and others GoF. LoF variants generally caused a milder phenotype.
Created: 7 Dec 2023, 1:12 a.m. | Last Modified: 7 Dec 2023, 1:12 a.m.

Panel Version: 0.1999

PMID: 32977175;17989220: Around 20 individuals with ID reported, mostly males inherited from unaffected mother. Missense have been shown to result in either protein expression reduction or minimal or no channel current, only a couple PTC reported. ID ranges from mild to severe, epilepsy has not been reported in all patients (6/19 by PMID: 32977175), and different types of epilepsy were found.
Sources: Expert Review
Created: 14 Apr 2021, 7:29 a.m.

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

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)

Publications

Created: 14 Apr 2021, 7:29 a.m.

Panel version: 0.1999

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 Green
Expert Review

Phenotypes

Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)

OMIM

305915

Clinvar variants

Variants in GRIA3

Penetrance

None

Publications

Panels with this gene