Likely inborn error of metabolism - targeted testing not possible
Gene: ALG2Comment 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
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
Mode of inheritance for gene: ALG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: alg2 has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to ALG2. Source London North GLH was added to ALG2.
Sarah Leigh: Associated with phenotype in O
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
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