POMT1 Chromosome 9
Protein O-mannosyltransferase 1
Upload your DNA to see your personal genotypes for variants in POMT1.
What This Gene Does
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000130714
Associated Conditions (25)
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Intellectual disability
POMT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy
POMT1-related congenital myopathy
Ventriculomegaly
Abnormal brainstem morphology
Abnormality of the musculature
Dysgenesis of the cerebellar vermis
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy
type C
Myopathy caused by variation in POMT1
Abnormality of the nervous system
+5 more conditions
Key Variants
RS1008021925
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS112845474
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K
Health Risk
RS115818625
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K
Health Risk
RS117985576
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2K
Health Risk
RS119462986
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1356791510
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1366898427
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1378023866
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Health Risk
RS138064523
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS138902646
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Health Risk
RS139415150
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy
Health Risk
RS139660235
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2K
Health Risk
All Variants (256)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564341846 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1564364615 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K |
| RS1588375386 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS1588391612 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy |
| RS1945766589 | Health Risk | Pathogenic | Dysgenesis of the cerebellar vermis, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1945826884 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS1946102978 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K |
| RS1947244829 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1947522752 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS1948107534 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS1949320441 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS1949626483 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS1949898946 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1950284130 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy |
| RS200056620 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy |
| RS2131554631 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2131554917 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K |
| RS2131588122 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2131672013 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2131707009 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2131708207 | Health Risk | Pathogenic | — |
| RS2131708682 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2131749139 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2131751359 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
| RS2539021872 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539021943 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539054352 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Autosomal recessive limb-girdle muscular dystrophy type 2K |
| RS2539060610 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539111862 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539131729 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539145885 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539179036 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539220743 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539264453 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2539265508 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539378110 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2539381136 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2539418643 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539473873 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539474836 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS2539476380 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, Walker-Warburg congenital muscular dystrophy |
| RS2539477272 | Health Risk | Pathogenic | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2539514312 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2539514362 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS371821873 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 |
| RS376882399 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS397514501 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K |
| RS398124245 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS398124247 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS587777817 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |