ADAMTSL4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• isolated ectopia lentis

  0.80

• craniosynostosis with ectopia lentis

  0.57

• hereditary disease

  0.42

• migraine disorder

  0.40

• Abnormality of the skeletal system

  0.39

• Pain

  0.35

• aortic stenosis

  0.32

• spontaneous coronary artery dissection

  0.30

• Headache

  0.30

• sebaceous gland disorder

  0.28

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

Protein function (UniProt)