ALG9 Chromosome 11
ALG9 alpha-1,2-mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG9.
What This Gene Does
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
11q23.1
Ensembl
ENSG00000086848
Associated Conditions (10)
ALG9 congenital disorder of glycosylation
Gillessen-Kaesbach-Nishimura syndrome
ALG9-related disorder
Inborn genetic diseases
Autosomal dominant polycystic liver disease
See cases
ALG9-associated autosomal dominant polycystic kidney disease
Gillessen-Kaesbach-Nishimura dysplasia
Polycystic kidney disease
adult type
Key Variants
RS138584071
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation
Health Risk
RS145762575
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
RS150225347
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
RS199995104
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, Inborn genetic diseases, ALG9-related disorder
Health Risk
RS200946042
Conflicting classifications of pathogenicity
Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, ALG9-related disorder
Health Risk
RS201194863
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
RS2276263
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
Health Risk
RS36111204
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, Autosomal dominant polycystic liver disease
Health Risk
RS374817147
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
Health Risk
RS45516107
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
RS563719515
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
Health Risk
RS781880611
Conflicting classifications of pathogenicity
ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138584071 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation |
| RS145762575 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation |
| RS150225347 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation |
| RS199995104 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, Inborn genetic diseases, ALG9-related disorder |
| RS200946042 | Health Risk | Conflicting classifications of pathogenicity | Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, ALG9-related disorder |
| RS201194863 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation |
| RS2276263 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS36111204 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, Autosomal dominant polycystic liver disease |
| RS374817147 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS45516107 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation |
| RS563719515 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS781880611 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation |
| RS782084496 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, Inborn genetic diseases, ALG9 congenital disorder of glycosylation |
| RS782372397 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, ALG9-related disorder, ALG9 congenital disorder of glycosylation |
| RS782775735 | Health Risk | Conflicting classifications of pathogenicity | ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9-associated autosomal dominant polycystic kidney disease |
| RS786205134 | Health Risk | Conflicting classifications of pathogenicity | Gillessen-Kaesbach-Nishimura syndrome, Gillessen-Kaesbach-Nishimura dysplasia, Gillessen-Kaesbach-Nishimura syndrome |
| RS121908023 | Health Risk | Likely pathogenic | ALG9 congenital disorder of glycosylation, ALG9-related disorder, Gillessen-Kaesbach-Nishimura syndrome |
| RS1964237631 | Health Risk | Likely pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2137107185 | Health Risk | Likely pathogenic | Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome |
| RS2497110387 | Health Risk | Likely pathogenic | ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation |
| RS2497476150 | Health Risk | Likely pathogenic | ALG9-related disorder, ALG9-associated autosomal dominant polycystic kidney disease, ALG9-related disorder |
| RS2497784482 | Health Risk | Likely pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS1592341222 | Health Risk | Pathogenic | Polycystic kidney disease, adult type, Polycystic kidney disease |
| RS2136827755 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2136936118 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2496962569 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS2497297808 | Health Risk | Pathogenic | ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation |
| RS782464678 | Health Risk | Pathogenic | Polycystic kidney disease, adult type, Autosomal dominant polycystic liver disease |
| RS1324062430 | Health Risk | Pathogenic/Likely pathogenic | ALG9-associated autosomal dominant polycystic kidney disease, ALG9-associated autosomal dominant polycystic kidney disease |
| RS2497298300 | Health Risk | Pathogenic/Likely pathogenic | ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation |
| RS782379446 | Health Risk | Pathogenic/Likely pathogenic | ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome, ALG9-related disorder |