PCYT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• spastic paraplegia 82, autosomal recessive

  0.77

• complex hereditary spastic paraplegia

  0.55

• neurodegenerative disease

  0.54

• Global developmental delay

  0.46

• Intellectual disability

  0.46

• Spastic paraparesis

  0.46

• Seizure

  0.46

• Developmental regression

  0.46

• Cerebral atrophy

  0.46

• Cerebellar atrophy

  0.46

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

Protein function (UniProt)