TMEM70

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal neuromuscular disorders

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial Complex V deficiency, TMEM70 type

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex V deficiency

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

  0.81

• Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency

  0.74

• inborn mitochondrial metabolism disorder

  0.60

• mitochondrial disease

  0.60

• Isolated ATP synthase deficiency

  0.59

• hereditary disease

  0.41

• cardiomyopathy

  0.37

• Anhydramnios

  0.37

• oligohydramnios

  0.37

• fetal growth restriction

  0.37

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

Protein function (UniProt)