Genes in panel

Hereditary ataxia - adult 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Phenotype on OMIM doesn't specificially mention ataxia or cerebellar abnormalities but described movement disorder could be confused. Looks like loss of function variants are only associtaed with the AR form (not halpoinsufficient)
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 1, 149400

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperekplexia 1, 149400 for gene: GLRA1

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GLRA1.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to GLRA1.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against 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

15 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 Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,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