RXYLT1 Chromosome 12
Ribitol xylosyltransferase 1
Upload your DNA to see your personal genotypes for variants in RXYLT1.
What This Gene Does
This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Glycosyltransferase family 8
Locus Type
gene with protein product
Location
12q14.2
Ensembl
ENSG00000118600
Associated Conditions (6)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type a
10
Familial cancer of breast
Inborn genetic diseases
Walker-Warburg congenital muscular dystrophy
Key Variants
RS141095352
Conflicting classifications of pathogenicity
Health Risk
RS571489273
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Health Risk
RS745327804
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748809209
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Health Risk
RS768418644
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1303817555
Likely pathogenic
Health Risk
RS1555228198
Likely pathogenic
Health Risk
RS1565898123
Likely pathogenic
Health Risk
RS1592838547
Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Health Risk
RS1897632485
Likely pathogenic
Health Risk
RS1897640752
Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Health Risk
RS2500486509
Likely pathogenic
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199605239 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
| RS2500486724 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
| RS397514545 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
| RS557282296 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS748590408 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS886039490 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |