Congenital disorders of glycosylation
Gene: ALG2Comment 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.
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
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Publications for ALG2 were set to 23404334; 12684507
This gene has been classified as Red List (Low Evidence).
ALG2 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
ALG2 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
ALG2 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
ALG2 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
ALG2 was created by sleigh
ALG2 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory