GRN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neuronal ceroid lipofuscinosis

  BIALLELIC, autosomal or pseudoautosomal

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• neuronal ceroid lipofuscinosis 11

  0.79

• GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

  0.78

• CLN11 disease

  0.71

• frontotemporal dementia

  0.65

• adult neuronal ceroid lipofuscinosis

  0.59

• Alzheimer disease

  0.55

• dementia

  0.52

• hereditary disease

  0.49

• amyotrophic lateral sclerosis

  0.47

• neuronal ceroid lipofuscinosis

  0.47

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

Protein function (UniProt)