SLC2A10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cerebral vascular malformations

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection (GMS)

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• arterial tortuosity syndrome

  0.83

• familial thoracic aortic aneurysm and aortic dissection

  0.56

• Familial hemophagocytic lymphohistiocytosis

  0.50

• Abnormality of the cardiovascular system

  0.45

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.45

• aortic aneurysm, familial thoracic 6

  0.13

• Disproportionate tall stature

  0.12

• Bicuspid aortic valve

  0.11

• Ehlers-Danlos syndrome, classic type

  0.11

• chronic kidney disease

  0.09

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

Protein function (UniProt)