TRAPPC11

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive limb-girdle muscular dystrophy type R18

  0.80

• Autosomal recessive limb-girdle muscular dystrophy type 2S

  0.63

• autosomal recessive limb-girdle muscular dystrophy

  0.55

• neurodegenerative disease

  0.48

• hereditary disease

  0.47

• limb-girdle muscular dystrophy

  0.46

• muscular dystrophy, limb-girdle, autosomal recessive 23

  0.41

• multiple sclerosis

  0.37

• intellectual disability-hyperkinetic movement-truncal ataxia syndrome

  0.37

• Triple A syndrome

  0.37

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

Protein function (UniProt)