CENPF

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

+8 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Stromme syndrome

  0.82

• Neurodevelopmental delay

  0.43

• neurodegenerative disease

  0.39

• microcephalic primordial dwarfism

  0.37

• primary ciliary dyskinesia

  0.27

• cystinuria

  0.27

• hereditary disease

  0.19

• microcephaly

  0.15

• placental retention

  0.15

• ocular hypotension

  0.14

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

Protein function (UniProt)