POMGNT1 Chromosome 1
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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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 |
|---|---|---|---|
| RS375238770 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS375420073 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS375432782 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS377292905 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS377724143 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS386834014 | Health Risk | Conflicting classifications of pathogenicity | Muscle eye brain disease, Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy |
| RS386834018 | Health Risk | Conflicting classifications of pathogenicity | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS386834036 | Health Risk | Conflicting classifications of pathogenicity | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS398124309 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS544816408 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS558052679 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy, alpha-dystroglycan related |
| RS565797493 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS569061665 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS573518562 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS587777821 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS74374973 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscle eye brain disease, Congenital Muscular Dystrophy |
| RS745343484 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS747723242 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy, alpha-dystroglycan related |
| RS751254522 | Health Risk | Conflicting classifications of pathogenicity | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS751751349 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS752229468 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS752700398 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS754653320 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS755588045 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS756316567 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS760705290 | Health Risk | Conflicting classifications of pathogenicity | Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS762972459 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS765906814 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS766382416 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS767852518 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS768588675 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS769213562 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS770188918 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS770449394 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy, alpha-dystroglycan related |
| RS776248221 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS794727291 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS80107141 | Health Risk | Conflicting classifications of pathogenicity | Congenital Muscular Dystrophy, alpha-dystroglycan related, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS886042244 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS886042396 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS886043076 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS886043409 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS886043958 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS961913683 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1048865247 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1057516318 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057516409 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1057516477 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1057516478 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057516576 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057516830 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |