DNAAF2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Primary ciliary disorders

  BIALLELIC, autosomal or pseudoautosomal

• Respiratory ciliopathies including non-CF bronchiectasis

  BIALLELIC, autosomal or pseudoautosomal

• Laterality disorders and isomerism

  BIALLELIC, autosomal or pseudoautosomal

• Ductal plate malformation

  Unknown

• Familial pulmonary fibrosis

• Non-CF bronchiectasis

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• primary ciliary dyskinesia

  0.77

• neurodegenerative disease

  0.51

• bronchiectasis

  0.37

• bilateral polymicrogyria

  0.06

• corneal neovascularization

  0.05

• Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

  0.05

• autosomal recessive primary microcephaly

  0.05

• early-onset autosomal dominant Alzheimer disease

  0.05

• Heterotaxia

  0.05

• lissencephaly due to LIS1 mutation

  0.05

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

Protein function (UniProt)