EXOC3L2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• brain malformation renal syndrome

  0.58

• Dandy-Walker syndrome

  0.37

• Abnormality of the skeletal system

  0.34

• coronary artery disorder

  0.34

• myocardial infarction

  0.29

• hypertensive disorder

  0.27

• Meckel syndrome

  0.26

• health study participation

  0.21

• heart disorder

  0.18

• coronary atherosclerosis

  0.17

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