SPAG1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Laterality disorders and isomerism

  BIALLELIC, autosomal or pseudoautosomal

• Primary ciliary disorders

  BIALLELIC, autosomal or pseudoautosomal

• Respiratory ciliopathies including non-CF bronchiectasis

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• primary ciliary dyskinesia

  0.76

• autosomal dominant nocturnal frontal lobe epilepsy 5

  0.45

• Kartagener Syndrome

  0.33

• complex regional pain syndrome

  0.26

• pneumothorax

  0.24

• pleural empyema

  0.24

• rheumatoid arthritis

  0.24

• ACPA-positive rheumatoid arthritis

  0.22

• fallopian tube disorder

  0.20

• ovarian disorder

  0.20

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

Protein function (UniProt)