FGF14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

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Disease associations (Open Targets)

• spinocerebellar ataxia type 27

  0.70

• spinocerebellar ataxia 27A

  0.68

• spinocerebellar ataxia 27B, late-onset

  0.56

• placental abruption

  0.40

• cerebellar ataxia

  0.39

• Familial paroxysmal ataxia

  0.38

• late-onset spinocerebellar ataxia 27b

  0.37

• hereditary disease

  0.34

• atrial fibrillation

  0.32

• tooth disorder

  0.29

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

Protein function (UniProt)

Diseases associated with FGF14

Curated MONDO disease pages that list FGF14 among their top associated genes.

• placental abruptionRare