Congenital disorders of glycosylation
Gene: ALG2

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 2 variants reported.
Created: 15 Dec 2016, 10:31 a.m.

Created: 15 Dec 2016, 10:31 a.m.

Panel version: 0.29

Daniel Ungar (University of York, Department of Biology)

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: 9 Dec 2016, 12:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 9 Dec 2016, 12:34 p.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

?Congenital disorder of glycosylation, type Ii 607906
Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation)

OMIM

607905

Clinvar variants

Variants in ALG2

Penetrance

Complete

Publications

Panels with this gene