VPS13C

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  Unknown

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Parkinson Disease and Complex Parkinsonism

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Young adult-onset Parkinsonism

  0.72

• Parkinson disease

  0.54

• young-onset Parkinson disease

  0.50

• neurodegenerative disease

  0.46

• type 2 diabetes mellitus

  0.43

• diabetes mellitus

  0.41

• Abnormality of the skeletal system

  0.41

• systemic lupus erythematosus

  0.31

• preeclampsia

  0.29

• complication

  0.28

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

Protein function (UniProt)