GMPPB

GDP-mannose pyrophosphorylase B
OMIM: 615320
PanelMode of inheritanceDetails
12 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352, Exercise intolerance, myalgia
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352, autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352, autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352, autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142