Sudden death in young people

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

1 review

Sarah Leigh (Genomics England Curator)

Although this gene is associated with a neurological disorder, Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400, the clinical synopsis in OMIM reports that infants may die from apnea or aspiration
Created: 26 Jan 2017, 9:35 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400

26 Jan 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GLRA1 was added to Sudden death in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

26 Jan 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GLRA1 was created by sleigh