ELN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Elastin-related phenotypes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare genetic inflammatory skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• supravalvular aortic stenosis

  0.78

• cutis laxa, autosomal dominant 1

  0.75

• autosomal dominant cutis laxa

  0.68

• Inguinal hernia

  0.58

• diverticular disease

  0.55

• Hernia of the abdominal wall

  0.53

• Hernia

  0.51

• skin aging

  0.49

• hereditary disease

  0.49

• neurodegenerative disease

  0.48

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

Protein function (UniProt)