GMPPB Chromosome 3
GDP-mannose pyrophosphorylase B
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What This Gene Does
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
Associated Conditions (15)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy
Inborn genetic diseases
GMPPB-related disorder
Myopathy caused by variation in GMPPB
Abnormality of the musculature
Elevated circulating creatine kinase concentration
Acute rhabdomyolysis
Muscular dystrophy-dystroglycanopathy
Autosomal recessive GMPPB-related disorders
Limb-girdle muscular dystrophy
Key Variants
RS1230808770
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS142908436
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS145535498
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS147966522
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1575297292
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS184127567
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS371188899
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS534685803
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS559784211
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS746357591
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS747845961
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS749730219
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1230808770 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS142908436 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS145535498 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS147966522 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1575297292 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS184127567 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS371188899 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS534685803 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS559784211 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS746357591 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS747845961 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS749730219 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS770830451 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS771028755 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS771861177 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS969160309 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 |
| RS973900671 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1175885498 | Health Risk | Likely pathogenic | Myopathy caused by variation in GMPPB, Myopathy caused by variation in GMPPB |
| RS1204528532 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1559696635 | Health Risk | Likely pathogenic | — |
| RS1559697587 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2080417973 | Health Risk | Likely pathogenic | — |
| RS2080423660 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2080427976 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS2108210412 | Health Risk | Likely pathogenic | — |
| RS2108210963 | Health Risk | Likely pathogenic | — |
| RS2108211362 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS2108211501 | Health Risk | Likely pathogenic | — |
| RS2108213393 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS2544757590 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS764625823 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS766298888 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS780867515 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS875989850 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 |
| RS875989851 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS1191822017 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1210040661 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1283105162 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1348189028 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1365085828 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1553691975 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1559697183 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1559697515 | Health Risk | Pathogenic | Elevated circulating creatine kinase concentration, Autosomal recessive limb-girdle muscular dystrophy type 2T, Elevated circulating creatine kinase concentration |
| RS2080421905 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2080456894 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2544752296 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2544753930 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2544756965 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS397509423 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS397509424 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T |