GFAP

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 leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Alexander disease

  0.87

• hereditary disease

  0.45

• Alexander disease type I

  0.38

• Seizure

  0.38

• Alexander disease type II

  0.37

• spastic paraplegia, intellectual disability, nystagmus, and obesity

  0.34

• metachromatic leukodystrophy

  0.28

• Progressive ventriculomegaly

  0.27

• scoliosis

  0.26

• Abnormality of the skeletal system

  0.25

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

Protein function (UniProt)