DTNA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital muscular dystrophy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial Meniere Disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

• Left Ventricular Noncompaction Cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

  0.43

• mathematical ability

  0.42

• atrial fibrillation

  0.42

• muscular dystrophy

  0.37

• alcohol drinking

  0.36

• dilated cardiomyopathy

  0.34

• Meniere disease

  0.31

• non-neoplastic nevus

  0.28

• hamartoma

  0.28

• nevus

  0.28

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

Protein function (UniProt)