TMEM43

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arrhythmogenic right ventricular cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Arthrogryposis

• Congenital muscular dystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

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Disease associations (Open Targets)

• arrhythmogenic right ventricular dysplasia 5

  0.71

• Emery-Dreifuss muscular dystrophy 7, autosomal dominant

  0.70

• Arrhythmogenic right ventricular dysplasia

  0.62

• auditory neuropathy, autosomal dominant 3

  0.51

• arrhythmogenic right ventricular cardiomyopathy

  0.50

• cardiomyopathy

  0.45

• Abnormality of the cardiovascular system

  0.42

• dilated cardiomyopathy

  0.37

• autosomal dominant Emery-Dreifuss muscular dystrophy

  0.37

• familial isolated arrhythmogenic ventricular dysplasia, left dominant form

  0.37

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

Protein function (UniProt)