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Intellectual disability

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

5 reviews

Ivone Leong (Genomics England Curator)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. The MOI should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" based on new evidence provided by Zornitza Stark.
Created: 11 Oct 2021, 12:17 p.m. | Last Modified: 11 Oct 2021, 12:17 p.m.
Panel Version: 3.1341

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Zornitza Stark (Australian Genomics)

Green List (high evidence)

2 (sibs) with bi-allelic truncating variants and 1 family with bi-allelic deletion (removing exons 7 and 8): RED for bi-allelic disease

11 individuals with de novo mono-allelic missense variants
5x with the same recurrent missense variant c.1969G>A (p.Ala657Thr) all the others were near this location, functional data presented. GREEN for mono-allelic disease

Associated with nonsyndromic neurodevelopmental disorder (NDD) with intellectual disability and developmental delay as core features with 30-50% individuals experiencing seizures.
Created: 12 Sep 2021, 5:57 a.m. | Last Modified: 12 Sep 2021, 5:57 a.m.
Panel Version: 3.1262

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive, 6 MIM# 611092; Non-syndromic neurodevelopmental disorder (NDD), autosomal dominant

Publications

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 (MRT6)

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 6:26 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_candidate; sfari_20150206; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive, 6, OMIM:611092
  • non-syndromic neurodevelopmental disorder (NDD), autosomal dominant
Tags
Q4_21_MOI
OMIM
138244
Clinvar variants
Variants in GRIK2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6, OMIM:611092; on-syndromic neurodevelopmental disorder (NDD), autosomal dominant to Mental retardation, autosomal recessive, 6, OMIM:611092; non-syndromic neurodevelopmental disorder (NDD), autosomal dominant

11 Oct 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: GRIK2.

11 Oct 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GRIK2 were set to

11 Oct 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6, 611092; MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 (MRT6) to Mental retardation, autosomal recessive, 6, OMIM:611092; on-syndromic neurodevelopmental disorder (NDD), autosomal dominant

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GRIK2.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

GRIK2 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIK2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen