GMPPB

GDP-mannose pyrophosphorylase B
OMIM: 615320, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red GMPPB in Hydrocephalus


Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352

Green GMPPB in Neuromuscular disorders


Version 1.165

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 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

Green GMPPB in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.32

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 615350
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352

Red GMPPB in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.1

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 1.171

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 1.77

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
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14

Green GMPPB in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.108

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 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Congenital Myasthenic Syndrome
  • muscular dystrophy-dystroglycanopathy
  • congenital muscular dystrophy with mental retardation
  • GMPPB-CMS
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
  • MDDGC14 with features of CMS

Green GMPPB in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.184

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 Cerebellar hypoplasia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

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

Amber GMPPB in Neuromuscular arthrogryposis


Version 0.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH

Green GMPPB in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.411

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14

Green GMPPB in Inborn errors of metabolism


Version 1.423

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14

Green GMPPB in Fetal anomalies


Version 0.371

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 1.176

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

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1135

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
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