CAV3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rhabdomyolysis and metabolic muscle disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Arthrogryposis

• Brugada syndrome and cardiac sodium channel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

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Disease associations (Open Targets)

• rippling muscle disease 2

  0.82

• long QT syndrome 9

  0.72

• distal myopathy

  0.70

• isolated asymptomatic elevation of creatine phosphokinase

  0.66

• sudden infant death syndrome

  0.61

• Prolonged QT interval

  0.57

• rippling muscle disease

  0.56

• Elevated circulating creatine kinase concentration

  0.55

• Rare familial disorder with hypertrophic cardiomyopathy

  0.54

• hypertrophic cardiomyopathy 1

  0.53

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

Protein function (UniProt)