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Intellectual disability syndromic and non-syndromic

Gene: GRIA3

Green List (high evidence)

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

2 reviews

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, 1:14 a.m. | Last Modified: 7 Dec 2023, 1:14 a.m.
Panel Version: 0.5621

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 14 Apr 2021, 7:14 a.m. | Last Modified: 14 Apr 2021, 7:14 a.m.
Panel Version: 0.3665

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

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

Publications

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
  • Genetic Health Queensland
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

History Filter Activity

7 Dec 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRIA3 were set to 32977175; 17989220

7 Dec 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRIA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

14 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gria3 has been classified as Green List (High Evidence).

14 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRIA3 were changed from to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)

14 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRIA3 were set to

14 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GRIA3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRIA3 was added gene: GRIA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIA3 was set to Unknown