Dystonia - childhood onset
Gene: GLRA1

GLRA1 (glycine receptor alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels

0 reviews

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hyperekplexia, hereditary 1, 149400

OMIM

138491

Clinvar variants

Variants in GLRA1

Penetrance

None

Publications

20301437

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GLRA1 was added gene: GLRA1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLRA1 were set to 20301437 Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1

Dystonia - childhood onset Gene: GLRA1