rs397509422
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.800
GeneticVariation
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
rs397509422
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.800
GeneticVariation
CLINVAR
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
rs397509422
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
0.800
GeneticVariation
UNIPROT
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
rs397509422
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.800
GeneticVariation
CLINVAR
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
23894383
2013
rs397509422
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.800
CausalMutation
CLINVAR
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
28478914
2017
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
27874200
2017
rs771861177
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
28433477
2017
rs199922550
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
25770200
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Expanding the phenotype of GMPPB mutations.
25681410
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
rs142908436
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
A
0.700
CausalMutation
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
rs145564018
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
rs199922550
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
rs761714818
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015
rs761714818
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
24780531
2014
rs761714818
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
24780531
2014
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
rs145564018
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013
rs199922550
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
23768512
2013