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Genetic epilepsy syndromes

Gene: ALG6

Green List (high evidence)

ALG6 (ALG6, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000088035
EnsemblGeneIds (GRCh37): ENSG00000088035
OMIM: 604566, Gene2Phenotype
ALG6 is in 8 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)

AR congenital disorder of glycosylation type Ic - characterised by psychomotor retardation, with delayed walking and speech, hypotonia and seizures. Korner et al, 1998 - 7 year old girl, seizures from 11 months - occurred during infections. Sun et al, 2005 - seizures - compound het variant identifed. Miller et al, 2011 - myoclonic episodes - hom variant identifed. Functional work has been done in some variants. Morava et al, 2016 - retrospectively evaluated the clinical data of 41 patients diagnosed with ALG6-CDG between 1995 & 2013 either registered by euroglycan database or followed by a clinician involved in eoroglycanet. 30/41 had seizures - 6/41 patients don't appear to have had molecular testing - rest are hom/compound het.
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
Congenital disorder of glycosylation, 603147

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)
Created: 17 Jul 2018, 8:50 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Associated with Congenital disorder of glycosylation in OMIM, and epilepsy is part of the phenotype
Created: 4 Jul 2018, 10:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ic 603147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
OMIM
604566
Clinvar variants
Variants in ALG6
Penetrance
None
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 ALG6.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ALG6.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Associated with Congenital dis

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: alg6 has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ALG6 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: alg6 has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ALG6. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALG6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ALG6 was created by Sarah Leigh