CEP55

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Primary ciliary disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

  0.75

• hereditary disease

  0.47

• Abnormality of the skeletal system

  0.27

• Abnormality of prenatal development or birth

  0.27

• renal dysplasia

  0.19

• neurodegenerative disease

  0.18

• central nervous system cancer

  0.12

• encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

  0.12

• neoplasm

  0.12

• cancer

  0.11

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

Protein function (UniProt)