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Genetic epilepsy syndromes

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 4 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

possible dominant functional effect, not simply loss of function. AD neurodevelopmental disorder with or without seizures and gait abnormalities. Global dev delay apparent from infancy/early childhood. Some patients may develop seizures of variabled severity ealy in life. Martin et al, 2017 - 5 unrelated patients aged 4-21. 1 patient had developed intractable seizures at 5 weeks of age. 3 of the other 4 had seizures of varying severity. 5 diff de novo het missense variants detected. 4/5 in a highly conserved motif. No functional studies undertaken but molecular modelling suggest these mutations would disturbthe gating mech. The 5th variant was in the mildest aff patient and thought to interefer with binding between monomers.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Seizures reported in 3/5 unrelated probands carrying monoallelic variants in GRIA4 (PMID 29220673). Mouse model carrying a GRIA4 variant display absence epilepsy (PMID 18316356).
Created: 25 Sep 2018, 4:37 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated individuals described with de novo variants in this gene and a neurodevelopment phenotype including seizures.
Created: 16 Aug 2018, 7:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without seizures and gait abnormalities, MIM#617864

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
OMIM
138246
Clinvar variants
Variants in GRIA4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GRIA4.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GRIA4.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Five unrelated individuals des

25 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GRIA4 were set to 29220673; 25010494

25 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GRIA4 were set to 29220673

25 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Sep 2018, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

25 Sep 2018, Gel status: 0

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GRIA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Aug 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

GRIA4 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

16 Aug 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

GRIA4 was created by Zornitza Stark