Genomics England
GMS Panels
Panels
Genes and Entities

GRIA4

glutamate ionotropic receptor AMPA type subunit 4
OMIM: 138246
PanelMode of inheritanceDetails
2 panels
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
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864