Genomics England
GMS Panels
Panels
Genes and Entities

GLRB

glycine receptor beta
OMIM: 138492
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 2 OMIM:614619, hyperekplexia 2 MONDO:0013828
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLRB-related hyperexplexia, biallelic, OMIM:614619, GLRB-related hyperexplexia, monoallelic
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 2 OMIM:614619, hyperekplexia 2 MONDO:0013828
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 2 OMIM:614619, hyperekplexia 2 MONDO:0013828