PPFIBP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities

  0.76

• microcephaly

  0.53

• Severe intellectual disability

  0.52

• Cerebral calcification

  0.52

• Seizure

  0.52

• cancer

  0.46

• neurodegenerative disease

  0.45

• neurodevelopmental disorder

  0.37

• melanocytic neoplasm

  0.37

• spitz nevus

  0.37

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

Protein function (UniProt)

Diseases associated with PPFIBP1

Curated MONDO disease pages that list PPFIBP1 among their top associated genes.

• microcephalyRare