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Genetic epilepsy syndromes

Gene: GLRA1

Amber List (moderate evidence)

GLRA1 (glycine receptor alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000145888
EnsemblGeneIds (GRCh37): ENSG00000145888
OMIM: 138491, Gene2Phenotype
GLRA1 is in 13 panels

8 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: Alison Callaway and John Taylor. Suggested gene rating: Amber.
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)

I don't know

GLRA1 appears to have a well-characterised association with hyperekplexia, which can be associated with seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 1, 149400

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: At least 15 variants have been reported in cases with Hyperekplexia 1 149400, however, the seizures associated with this disorder to not have concomitant discharges on EEG analysis.
Created: 7 Nov 2018, 3:19 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

Publication describing a young girl with excessive startle reflex, weird laughing and developmental delay since early infancy. She also suffered from infantile spasms and generalized tonic-clonic seizures, and became seizure-free with antiepileptic drugs treatment. A novel heterozygous variant was identified in this gene in the daughter and mother (who also appeared with excessive startle reflex during early infancy). Multiple families reported in OMIM with association with hyperekplexia and variants in this gene.
Created: 4 Apr 2018, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Expert
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
  • Hyperekplexia
  • developmental delay
  • infantile spasms and generalized tonic-clonic seizures
OMIM
138491
Clinvar variants
Variants in GLRA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GLRA1.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GLRA1.

9 Jan 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1 149400 to Hyperekplexia, hereditary 1, 149400; Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Publication describing a young

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: glra1 has been classified as Amber List (Moderate Evidence).

7 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLRA1 were set to 29602144

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: glra1 has been classified as Amber List (Moderate Evidence).

7 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLRA1 were set to

7 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 149400

7 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GLRA1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GLRA1 was created by Sarah Leigh