ALG2 Chromosome 9
ALG2 alpha-1,3/1,6-mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG2.
What This Gene Does
This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
Glycosyl transferases group 1 domain containing
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000119523
Associated Conditions (5)
ALG2-congenital disorder of glycosylation
Congenital myasthenic syndrome 14
See cases
ALG2-related disorder
Inborn genetic diseases
Key Variants
RS146770430
Conflicting classifications of pathogenicity
ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, See cases
Health Risk
RS1554707637
Conflicting classifications of pathogenicity
ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, Inborn genetic diseases
Health Risk
RS1828729293
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14
Health Risk
RS368075764
Conflicting classifications of pathogenicity
ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, ALG2-related disorder
Health Risk
RS369231996
Conflicting classifications of pathogenicity
ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, Inborn genetic diseases
Health Risk
RS376229898
Conflicting classifications of pathogenicity
Inborn genetic diseases, ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14
Health Risk
RS776974668
Conflicting classifications of pathogenicity
ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, Inborn genetic diseases
Health Risk
RS1828723159
Likely pathogenic
Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14
Health Risk
RS1828806280
Likely pathogenic
ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
Health Risk
RS2490391562
Likely pathogenic
ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
Health Risk
RS757068626
Likely pathogenic
ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
Health Risk
RS1828806340
Pathogenic
Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146770430 | Health Risk | Conflicting classifications of pathogenicity | ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, See cases |
| RS1554707637 | Health Risk | Conflicting classifications of pathogenicity | ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, Inborn genetic diseases |
| RS1828729293 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14 |
| RS368075764 | Health Risk | Conflicting classifications of pathogenicity | ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, ALG2-related disorder |
| RS369231996 | Health Risk | Conflicting classifications of pathogenicity | ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, Inborn genetic diseases |
| RS376229898 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14 |
| RS776974668 | Health Risk | Conflicting classifications of pathogenicity | ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14, Inborn genetic diseases |
| RS1828723159 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14 |
| RS1828806280 | Health Risk | Likely pathogenic | ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation |
| RS2490391562 | Health Risk | Likely pathogenic | ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation |
| RS757068626 | Health Risk | Likely pathogenic | ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation |
| RS1828806340 | Health Risk | Pathogenic | Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14 |
| RS201729325 | Health Risk | Pathogenic | ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation |
| RS730880304 | Health Risk | Pathogenic | ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation |
| RS730882051 | Health Risk | Pathogenic | Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14 |
| RS730882123 | Health Risk | Pathogenic | Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14 |
| RS387906281 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14 |