MFN2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Optic neuropathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Charcot-Marie-Tooth disease type 2A2

  0.82

• Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

  0.81

• neuropathy, hereditary motor and sensory, type 6A

  0.81

• Autosomal dominant Charcot-Marie-Tooth disease type 2A2

  0.80

• multiple symmetric lipomatosis

  0.66

• hereditary motor and sensory neuropathy type 6

  0.63

• Charcot-Marie-Tooth disease type 2

  0.58

• Charcot-Marie-Tooth disease

  0.55

• hereditary disease

  0.54

• severe early-onset axonal neuropathy due to MFN2 deficiency

  0.45

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

Protein function (UniProt)