GLRA1

glycine receptor alpha 1
OMIM: 138491
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia, hereditary 1, 149400
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400, Hyperekplexia, hereditary 1, 149400
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia, hereditary 1, 149400
R-numbers: R66
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400