1. Genes and Genomic Entities
  2. GMPPB

GMPPB

GDP-mannose pyrophosphorylase B
OMIM: 615320, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Red GMPPB in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Green GMPPB in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Green GMPPB in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MDDGC14 with features of CMS
    • muscular dystrophy-dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
    • congenital muscular dystrophy with mental retardation
    • GMPPB-CMS
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
    • Congenital Myasthenic Syndrome
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
    Green GMPPB in Ataxia and cerebellar anomalies - narrow panel


    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
    Green GMPPB in Congenital disorders of glycosylation

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 4.18
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
    • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Red GMPPB in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
    Red GMPPB in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.26
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
    Green GMPPB in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350
    • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352
    Green GMPPB in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.31
    Latest signed off version: v5.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
    Green GMPPB in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Green GMPPB in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Green GMPPB in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Literature
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
    Green GMPPB in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
    • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Green GMPPB in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
    • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Green GMPPB in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
    Green GMPPB in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350
    Green GMPPB in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
    • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
    • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
    Red GMPPB in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green GMPPB in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350
    • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352
    Green GMPPB in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
    • Exercise intolerance, myalgia