Hereditary ataxia - adult onsetGene: GLRA1
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.
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
Hyperekplexia 1, 149400
Mode of pathogenicity
Other - please provide details in the comments
Added phenotypes Hyperekplexia 1, 149400 for gene: GLRA1
Source NHS GMS was added to GLRA1.
Source Wessex and West Midlands GLH was added to GLRA1.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
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