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Genetic epilepsy syndromes

Gene: ALG3

Green List (high evidence)

ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 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)

AR congenital disorder of glycosylation type Id - typically presents with severe neurologic involvement assoc with dysmorphism and visual impairment. Stibler et al, 1995 - 2 unrelated infants - both developed intractable seizures, 1 of these had a hom ALG3 variant. Kranz et al, 2007 - 2 sibs - both developed intractable seizures shortly after birth - compound het variants, parents unaff carriers. Alsubhi et al paper, 2017 - retrospectively reviewing Saudi patients with CDG - 7 with ALG3-CDG - none presented 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, 601110

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, 8:46 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

associated with the phenotype in OMIM, and epilepsy is part of the phenotype
Created: 4 Jul 2018, 10:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Id 601110

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 Id 601110
OMIM
608750
Clinvar variants
Variants in ALG3
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 ALG3.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ALG3.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: associated with the phenotype

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: alg3 has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110

17 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ALG3 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: alg3 has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ALG3. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ALG3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ALG3 was created by Sarah Leigh