POMGNT1 Chromosome 1
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Upload your DNA to see your personal genotypes for variants in POMGNT1.
What This Gene Does
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
O-linked N-acetylglucosaminyltransferases
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000085998
Associated Conditions (29)
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
Muscular dystrophy-dystroglycanopathy
Familial pancreatic carcinoma
Congenital Muscular Dystrophy
alpha-dystroglycan related
Retinal dystrophy
Muscle eye brain disease
Inborn genetic diseases
POMGNT1-related disorder
Ovarian serous cystadenocarcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lung cancer
Structural eye disease
Autosomal recessive limb-girdle muscular dystrophy
Intellectual disability
+9 more conditions
Key Variants
RS1057516536
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Health Risk
RS1064797111
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O
Health Risk
RS1157887321
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Health Risk
RS1223030962
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O
Health Risk
RS1236287516
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Health Risk
RS1246120938
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Health Risk
RS1263918453
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Health Risk
RS12737140
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy, alpha-dystroglycan related
Health Risk
RS1352149832
Conflicting classifications of pathogenicity
Health Risk
RS1379184772
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Health Risk
RS138330966
Conflicting classifications of pathogenicity
Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2O
Health Risk
RS138745073
Conflicting classifications of pathogenicity
Retinitis pigmentosa 76, Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
Health Risk
All Variants (303)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267606961 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS28942068 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS376973640 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS386834012 | Health Risk | Pathogenic | Muscle eye brain disease, POMGNT1-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS386834015 | Health Risk | Pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834019 | Health Risk | Pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834024 | Health Risk | Pathogenic | Muscle eye brain disease, Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS386834028 | Health Risk | Pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834029 | Health Risk | Pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834031 | Health Risk | Pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834034 | Health Risk | Pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS398124310 | Health Risk | Pathogenic | — |
| RS587777822 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS749603354 | Health Risk | Pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS753827372 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS763146463 | Health Risk | Pathogenic | — |
| RS774349262 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS886037947 | Health Risk | Pathogenic | Retinitis pigmentosa 76, Retinitis pigmentosa 76 |
| RS886037948 | Health Risk | Pathogenic | Retinitis pigmentosa 76, Retinitis pigmentosa 76 |
| RS886037949 | Health Risk | Pathogenic | Retinitis pigmentosa 76, Retinitis pigmentosa 76 |
| RS908815575 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1057516903 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1057517153 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1057517355 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1156647434 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1176001640 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1247668825 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1302430730 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1317832573 | Health Risk | Pathogenic/Likely pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1424631447 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS150877512 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1557673817 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1557677980 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1571659306 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1657829644 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1658215085 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS193919335 | Health Risk | Pathogenic/Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS2148167494 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2148192392 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2525336107 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS2525387871 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2525389456 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscle eye brain disease |
| RS267606960 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscle eye brain disease |
| RS28940869 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscle eye brain disease |
| RS375431575 | Health Risk | Pathogenic/Likely pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834017 | Health Risk | Pathogenic/Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS386834022 | Health Risk | Pathogenic/Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS386834033 | Health Risk | Pathogenic/Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834035 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscle eye brain disease |
| RS727504103 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |