NOTCH3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• CADASIL

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dementia (encompassing fronto-temporal dementia and prion disease)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Familial cerebral small vessel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

  0.83

• CADASIL

  0.81

• lateral meningocele syndrome

  0.73

• myofibromatosis, infantile, 2

  0.70

• cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

  0.62

• neurodevelopmental disorder

  0.54

• leukodystrophy

  0.46

• cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1

  0.46

• ischemic stroke

  0.44

• migraine with aura

  0.43

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

Protein function (UniProt)