CEP41

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome

  0.78

• Joubert syndrome with ocular defect

  0.55

• hereditary disease

  0.45

• autism spectrum disorder

  0.39

• ciliopathy

  0.37

• kidney transplant

  0.18

• Intellectual disability

  0.15

• Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

  0.06

• famililal cerebral cavernous malformations

  0.06

• Hereditary cerebral hemorrhage with amyloidosis

  0.06

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

Protein function (UniProt)

Diseases associated with CEP41

Curated MONDO disease pages that list CEP41 among their top associated genes.

• Joubert syndromeRare