Genomics England
GMS Panels
Panels
Genes and Entities

GRID2

glutamate ionotropic receptor delta type subunit 2
OMIM: 602368
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 18, 616204, Progressive cerebellar ataxia, HP:0002073, autosomal recessive spinocerebellar ataxia 18, MONDO:0014530
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive cerebellar ataxia, HP:0002073, Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204, autosomal recessive spinocerebellar ataxia 18, MONDO:0014530
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 18, 616204