Early onset or syndromic epilepsy
Gene: GRIK2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Comment on list classification: Demoted from Green to Amber as this gene has not been approved to be on this panel yet. It should be noted that not all patients with variants in this gene develop seizures.Created: 11 Oct 2021, 12:21 p.m. | Last Modified: 11 Oct 2021, 12:21 p.m.
Panel Version: 2.440
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 (MRT6)
Publications
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 functionCreated: 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 TrustCreated: 19 Jul 2017, 12:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q4_21_rating was removed from gene: GRIK2.
Source Expert Review Green was added to GRIK2. Source NHS GMS was added to GRIK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Mode of inheritance for gene: GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: grik2 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_MOI was removed from gene: GRIK2. Tag Q4_21_rating tag was added to gene: GRIK2.
gene: GRIK2 was added gene: GRIK2 was added to Genetic epilepsy syndromes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,Victorian Clinical Genetics Services Q4_21_MOI tags were added to gene: GRIK2. Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIK2 were set to 34375587; 17847003; 25039795 Phenotypes for gene: GRIK2 were set to Mental retardation, autosomal recessive, 6, OMIM:611092; on-syndromic neurodevelopmental disorder (NDD), autosomal dominant Penetrance for gene: GRIK2 were set to Complete