Newborns main panel
Gene: GLRB

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 24030948 - 11 autosomal recessive 1 autosomal dominant
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

there are also de novo dominant variants reported, are we not interested in these? -> KS: Only interested in AR.
Created: 17 May 2023, 1:53 p.m. | Last Modified: 17 May 2023, 1:53 p.m.

Panel Version: 0.83

Created: 17 May 2023, 1:53 p.m.
Last Modified: 17 May 2023, 1:53 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Hyperekplexia 2

OMIM

138492

Clinvar variants

Variants in GLRB

Penetrance

None

Panels with this gene