MTO1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  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

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

  0.80

• neurodegenerative disease

  0.55

• hereditary disease

  0.52

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• Global developmental delay

  0.34

• Abnormal brain morphology

  0.33

• mitochondrial oxidative phosphorylation disorder

  0.27

• hereditary motor neuron disease

  0.12

• Genetic motor neuron disease

  0.12

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

Protein function (UniProt)