RYR3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Congenital hyperinsulinism

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• congenital myopathy 20

  0.61

• Fever

  0.51

• stroke disorder

  0.44

• multiple sclerosis

  0.38

• neurodegenerative disease

  0.37

• nemaline myopathy

  0.37

• Malignant hyperthermia

  0.37

• Spasticity

  0.37

• cerebral palsy

  0.37

• spinal cord injury

  0.37

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

Protein function (UniProt)