Dystonia - childhood onset

Gene: GLRA1

Green List (high evidence)

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

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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