Brain channelopathy
Gene: GLRB

GLRB (glycine receptor beta)
EnsemblGeneIds (GRCh38): ENSG00000109738
EnsemblGeneIds (GRCh37): ENSG00000109738
OMIM: 138492, Gene2Phenotype
GLRB is in 8 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Added to the gene list, as hypereklepsia is a channelopathy disorder
Created: 21 Feb 2017, 5:04 p.m.

Also one de novo mutation described in one paper (L285R) (PMID:23238346)
Created: 17 Jan 2017, 12:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
614619 HYPEREKPLEXIA 2

Publications

Created: 17 Jan 2017, 12:31 p.m.

Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Hyperekplexia 2, 614619

OMIM

138492

Clinvar variants

Variants in GLRB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619

21 Feb 2017, Gel status: 4