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Genetic epilepsy syndromes

Gene: GLUD1

Green List (high evidence)

GLUD1 (glutamate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000148672
EnsemblGeneIds (GRCh37): ENSG00000148672
OMIM: 138130, Gene2Phenotype
GLUD1 is in 11 panels

4 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: Green.
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)

Green List (high evidence)

AD hyperinsulinism-hyperammonemia syndrome see hypoglycaemic seizures (HHS) - dstinctive form of congenital hyperinsulinism caused by an inborn metabolic error - main clinical feature is recurrent episodes of symptomatic hypoglycaemia. Bahi-Buisson et al, 2008 - retrospectively analysed neuological outcomes of 22 consecutive patients (12 male, 10 female) from 18 months to 40 years. 14 patients had childhood epilepsy, seizures observed in 11/19 ptients with documented GLUT1 mutations.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Created: 20 Nov 2018, 11:44 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 20 Nov 2018, 10:59 a.m.
Comment on publications: Added publications suggested from external expert review and OMIM to support upgrading of the gene to Green
Created: 20 Nov 2018, 10:55 a.m.
Comment on mode of inheritance: Changed MOI from external clinical review and publications
Created: 20 Nov 2018, 10:53 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures occur both in the context of hypoglycaemic episodes, but also outside as detailed in this cohort study.
Created: 23 Oct 2018, 6:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperinsulinism-hyperammonemia syndrome, MIM#606762

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
  • epilepsy
OMIM
138130
Clinvar variants
Variants in GLUD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to GLUD1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GLUD1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures occur both in the con

20 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: glud1 has been classified as Green List (High Evidence).

20 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: glud1 has been classified as Green List (High Evidence).

20 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLUD1 were changed from Hyperinsulinism-hyperammonemia syndrome, 606762 to Hyperinsulinism-hyperammonemia syndrome, 606762; epilepsy

20 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GLUD1 were set to 19046187

20 Nov 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, 606762

20 Nov 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GLUD1 were set to

20 Nov 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GLUD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to GLUD1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GLUD1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GLUD1 was created by Sarah Leigh