ANO5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• autosomal recessive limb-girdle muscular dystrophy type 2L

  0.84

• gnathodiaphyseal dysplasia

  0.82

• Miyoshi muscular dystrophy 3

  0.78

• autosomal recessive limb-girdle muscular dystrophy

  0.71

• Distal anoctaminopathy

  0.63

• Elevated circulating creatine kinase concentration

  0.49

• atrial fibrillation

  0.47

• myopathy

  0.46

• Abnormality of the musculature

  0.44

• muscular dystrophy

  0.42

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

Protein function (UniProt)