SKI

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hydrocephalus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Shprintzen-Goldberg syndrome

  0.85

• Goldberg-Shprintzen syndrome

  0.70

• familial thoracic aortic aneurysm and aortic dissection

  0.48

• Schinzel-Giedion syndrome

  0.47

• hereditary disease

  0.47

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.42

• Intellectual disability

  0.40

• type 2 diabetes mellitus

  0.39

• diabetes mellitus

  0.38

• craniosynostosis

  0.36

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

Protein function (UniProt)