Genomics England
GMS Panels
Panels
Genes and Entities

GRIK2

glutamate ionotropic receptor kainate type subunit 2
OMIM: 138244
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive, 6, OMIM:611092, non-syndromic neurodevelopmental disorder (NDD), autosomal dominant
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive, 6, OMIM:611092, non-syndromic neurodevelopmental disorder (NDD), autosomal dominant