Neurotransmitter Defects
Gene: GLRA1

GLRA1 (glycine receptor alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glycine receptor, both mono allelic and bi-allelic variants causative. Hyperekplexia is an early-onset neurologic disorder characterised by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks.
Created: 23 Aug 2020, 8:04 a.m. | Last Modified: 23 Aug 2020, 8:04 a.m.

Panel Version: 0.43

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 1, MIM# 149400

Publications

Created: 23 Aug 2020, 8:04 a.m.
Last Modified: 23 Aug 2020, 8:04 a.m.
Panel version: 0.43

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hyperekplexia 1, MIM# 149400

OMIM

138491

Clinvar variants

Variants in GLRA1

Penetrance

None

Publications

Panels with this gene