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DDG2P

Gene: GRIK2

Green List (high evidence)

GRIK2 (glutamate ionotropic receptor kainate type subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000164418
EnsemblGeneIds (GRCh37): ENSG00000164418
OMIM: 138244, Gene2Phenotype
GRIK2 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

The MOI should be changed from be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there is now an entry for "GRIK2-related intellectual disability and hypomyelination" in Gene2Phenotype (probable), which has an MOI of monoallelic.
Created: 11 Oct 2021, 12:24 p.m. | Last Modified: 11 Oct 2021, 12:24 p.m.
Panel Version: 2.46

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092
OMIM
138244
Clinvar variants
Variants in GRIK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GRIK2 was added gene: GRIK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIK2 were set to 17847003 Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092