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Intellectual disability

Gene: GRIA4

Green List (high evidence)

GRIA4 (glutamate ionotropic receptor AMPA type subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000152578
EnsemblGeneIds (GRCh37): ENSG00000152578
OMIM: 138246, Gene2Phenotype
GRIA4 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 28 Sep 2018, 2:23 p.m.
Comment on phenotypes: added OMIM MIMid
Created: 28 Sep 2018, 2:07 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 unrelated individuals with de novo variants in this gene described in the literature, ID is part of the phenotype.
Created: 22 Jun 2018, 11:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without seizures and gait abnormalities

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
OMIM
138246
Clinvar variants
Variants in GRIA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GRIA4.

28 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gria4 has been classified as Green List (High Evidence).

28 Sep 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864

25 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gria4 has been classified as Amber List (Moderate Evidence).

25 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gria4 has been classified as Amber List (Moderate Evidence).

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

GRIA4 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

GRIA4 was created by Zornitza Stark