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 |
|---|---|---|---|
| RS2525386642 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525388972 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525392096 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525398475 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS2525403699 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2525406050 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525411153 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525424712 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscle eye brain disease |
| RS2525428064 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525428998 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525429573 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525430106 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525435346 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525435882 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525437064 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525437182 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525462235 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525462732 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Retinitis pigmentosa 76 |
| RS2525463245 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2525463752 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525465722 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525465896 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525466855 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525475600 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525475821 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525476930 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS267606962 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Muscle eye brain disease |
| RS367957647 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS386834010 | Health Risk | Likely pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834013 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834016 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834020 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834021 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834023 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834025 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS386834026 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834027 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834032 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS386834037 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS386834038 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS386834039 | Health Risk | Likely pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Retinitis pigmentosa 76 |
| RS386834040 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy, Muscle eye brain disease |
| RS749332339 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS750620615 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS751274265 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS752497984 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS752591703 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS764266244 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS770219373 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS886044567 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |