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 3.56
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 3.79
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 4.26
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400, Hyperekplexia, hereditary 1, 149400
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
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