Sudden death in young people
Gene: GLRA1

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

Created: 26 Jan 2017, 9:35 a.m.

Panel version: 1.1

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN
Emory Genetics Laboratory

Phenotypes

Hyperekplexia, hereditary 1, 149400

OMIM

138491

Clinvar variants

Variants in GLRA1

Penetrance

Complete

Panels with this gene

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