TRAPPC2L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• mucopolysaccharidosis type 4A

  0.56

• encephalopathy, progressive, early-onset, with episodic rhabdomyolysis

  0.53

• mucopolysaccharidosis type 4

  0.41

• neurodegenerative disease

  0.37

• hereditary disease

  0.16

• sweat gland disorder

  0.16

• Intellectual disability

  0.12

• anemia, congenital dyserythropoietic, type IVb

  0.03

• Congenital dyserythropoietic anemia type IV

  0.03

• congenital dyserythropoietic anemia type 4

  0.03

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

Protein function (UniProt)