PNPLA6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• ataxia-hypogonadism-choroidal dystrophy syndrome

  0.81

• hereditary spastic paraplegia 39

  0.80

• trichomegaly-retina pigmentary degeneration-dwarfism syndrome

  0.77

• Trichomegaly - retina pigmentary degeneration - dwarfism

  0.76

• Autosomal recessive spastic paraplegia type 39

  0.75

• Laurence-Moon syndrome

  0.67

• Ataxia - hypogonadism - choroidal dystrophy

  0.65

• Retinal dystrophy

  0.49

• hereditary spastic paraplegia

  0.49

• spastic ataxia

  0.47

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

Protein function (UniProt)