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Likely inborn error of metabolism

Gene: ALG2

Amber List (moderate evidence)
ALG2 (ALG2, alpha-1,3/1,6-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000119523
EnsemblGeneIds (GRCh37): ENSG00000119523
OMIM: 607905, Gene2Phenotype
ALG2 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM.
Created: 4 Dec 2019, 4:37 p.m. | Last Modified: 4 Dec 2019, 4:37 p.m.
Panel Version: 1.422
Comment on list classification: Promoted from Red to Amber due to feedback from the GMS Metabolic Specialist disease test group. Information provided: 1 patient described with functional studies carried out: Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase activity and the biosynthesis of dolichol-linked oligosaccharides both in patient fibroblasts and in yeast cells with an ALG2 mutation (PMID: 12684507).
Created: 4 Dec 2019, 4:35 p.m. | Last Modified: 4 Dec 2019, 4:35 p.m.
Panel Version: 1.421
Created: 4 Dec 2019, 4:35 p.m.
Last Modified: 4 Dec 2019, 4:35 p.m.
Panel version: 1.421

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

PMID 12684507 presents a single patient with an ALG2 defect who has diagnosed CDG. A second publication, PMID 23404334, presents additional ALG2 defective patients, but these have no detectable transferrin glycosylation defects, and are classed as congenital myasthenic syndrome patients. It is likely that these patients also have a mild glycosylation pheotype based on the biochemical properties of ALG2, but this is merely a hypothesis.
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Congenital disorder of glycosylation, type Ii 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates 616228

Publications

Created: 23 Feb 2017, 5:11 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
  • Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
  • ?Congenital disorder of glycosylation, type Ii 607906
OMIM
607905
Clinvar variants
Variants in ALG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ALG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: alg2 has been classified as Amber List (Moderate Evidence).

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALG2. Source London North GLH was added to ALG2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906 for gene: ALG2 Publications for gene ALG2 were changed from 27604308 to 12684507; 23404334

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ALG2 was added gene: ALG2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG2 were set to 27604308 Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation); ?Congenital disorder of glycosylation, type Ii 607906