GMPPB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myaesthenic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal recessive limb-girdle muscular dystrophy type 2T

  0.83

• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

  0.80

• muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

  0.79

• muscle-eye-brain disease

  0.63

• congenital muscular dystrophy with cerebellar involvement

  0.62

• congenital muscular dystrophy with intellectual disability

  0.62

• neurodegenerative disease

  0.53

• hereditary disease

  0.51

• muscular dystrophy-dystroglycanopathy

  0.51

• Abnormality of the musculature

  0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)