CHCHD10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Mitochondrial disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric motor neuronopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Possible mitochondrial disorder - nuclear genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Undiagnosed metabolic disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• lower motor neuron syndrome with late-adult onset

  0.77

• frontotemporal dementia with motor neuron disease

  0.75

• autosomal dominant mitochondrial myopathy with exercise intolerance

  0.68

• amyotrophic lateral sclerosis

  0.41

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• hereditary disease

  0.19

• frontotemporal dementia

  0.10

• Alzheimer disease

  0.08

• genetic developmental and epileptic encephalopathy

  0.08

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

Protein function (UniProt)