CFAP221

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Respiratory ciliopathies including non-CF bronchiectasis

  BIALLELIC, autosomal or pseudoautosomal

• Primary ciliary disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Young syndrome

  0.56

• primary ciliary dyskinesia

  0.50

• non-autoimmune hemolytic anemia

  0.25

• inflammatory bowel disease

  0.20

• injury

  0.20

• type 2 diabetes mellitus

  0.15

• Genetic developmental defect of the eye

  0.09

• nasopharyngeal carcinoma

  0.06

• male infertility

  0.02

• Hydrocephalus

  0.01

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

Protein function (UniProt)