GMPPB

GDP-mannose pyrophosphorylase B
OMIM: 615320
PanelMode of inheritanceDetails
11 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352, Exercise intolerance, myalgia
R-numbers: R83
Signed-off version 4.1
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 3.1
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 3.1
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
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 3.1
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
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
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 3.1
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 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
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