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  2. Early onset or syndromic epilepsy
  3. GLRB
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Early onset or syndromic epilepsy

Gene: GLRB

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

AR hyperekplexia. Seizures don't seem to be a feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 2, 614619

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. However, one case in a large Saudi Arabian family was reported with seizures and a possible history of meningitis in infancy (PMID 21391991).
Created: 7 Nov 2018, 3:24 p.m.
Created: 7 Nov 2018, 3:24 p.m.

Panel version: 0.582

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Expert
Phenotypes
  • Hyperekplexia 2, 614619
OMIM
138492
Clinvar variants
Variants in GLRB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GLRB.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GLRB.

9 Jan 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: glrb has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal

7 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

7 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLRB were set to

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GLRB was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GLRB was created by Sarah Leigh