Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: GRIA4

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P October 2019: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864. G2P Allelic requirement: monoallelic. G2P Mutation consequence: all missense/in frame. G2P Disease confidence rating: possible.
Created: 26 Nov 2019, 12:02 p.m. | Last Modified: 26 Nov 2019, 12:02 p.m.
Panel Version: 1.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864
OMIM
138246
Clinvar variants
Variants in GRIA4
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: GRIA4 was added gene: GRIA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIA4 were set to 29220673 Phenotypes for gene: GRIA4 were set to NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 Mode of pathogenicity for gene: GRIA4 was set to Other - please provide details in the comments