Brain channelopathy

Gene: GLRB

Green List (high evidence)

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

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

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 0

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1. January 23 2017

17 Jan 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

GLRB was added to Brain channelopathypanel. Sources: Expert Review

17 Jan 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

GLRB was created by arianna