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 |
|---|---|---|---|
| RS1057516871 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057516955 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057516986 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057517247 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057517340 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057517369 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057517422 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1057517449 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Lung cancer |
| RS1226108463 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1268759044 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1457667479 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1476814352 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1553162601 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1553162873 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1553163077 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1553163254 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1553163335 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Gastric cancer |
| RS1553163590 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1553163721 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1553164129 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Retinitis pigmentosa 76 |
| RS1557671443 | Health Risk | Likely pathogenic | — |
| RS1571655768 | Health Risk | Likely pathogenic | Muscle eye brain disease, Muscle eye brain disease |
| RS1657824312 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1657900739 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1657940058 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1658064113 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS1658103320 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1658278935 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1658353874 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1658353990 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS193919336 | Health Risk | Likely pathogenic | Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2148163693 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2148166991 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2148172518 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2148212111 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2148217590 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2148218654 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS2525345067 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS2525345109 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525345840 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS2525355640 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525360161 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525360440 | Health Risk | Likely pathogenic | POMGNT1-related disorder, Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS2525360577 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525382839 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525383254 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525383655 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525384059 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525384071 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2525386608 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, Retinitis pigmentosa 76 |