Genomics England
GMS Panels
Panels
Genes and Entities

GLRA1

glycine receptor alpha 1
OMIM: 138491
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia, hereditary 1, 149400
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GLRA1-related hyperexplexia, biallelic, OMIM:149400, GLRA1-related hyperexplexia, monoallelic, OMIM:149400
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 6.7
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400, Hyperekplexia, hereditary 1, 149400
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia, hereditary 1, 149400
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400