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 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 12684507
- 1x patient with multisystemic disorder with mental retardation, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities. Fibroblasts showed severely reduced enzymatic activity.

PMID: 23404334
- 2x families with Congenital myasthenic syndrome. Authors claimed the standard transferrin glycoform analysis did not show any abnormalities suggesting only modest impairment of N-linked glycosylation. However data was not shown.

PMID: 24461433
- 3 affecteds in 1 consanguineous family. 1 has normal transferrin results and 2x mildly elevated
Created: 15 Jul 2020, 2:19 a.m. | Last Modified: 15 Jul 2020, 2:19 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ii (MIM# 607906)

Publications

Created: 15 Jul 2020, 2:19 a.m.
Last Modified: 15 Jul 2020, 2:19 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type Ii (MIM# 607906)

OMIM

607905

Clinvar variants

Variants in ALG2

Penetrance

None

Publications

Panels with this gene