GMPPB

GDP-mannose pyrophosphorylase B
OMIM: 615320, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red GMPPB in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	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 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) 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 Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen 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 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	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 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) 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 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	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 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) 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 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) 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 1.86	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
Green GMPPB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	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 Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green GMPPB in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	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