SMC3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Radial dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Cornelia de Lange syndrome

  0.78

• hereditary disease

  0.52

• Wiedemann-Steiner syndrome

  0.33

• Intellectual disability

  0.31

• cardiac arrest

  0.31

• neurodegenerative disease

  0.30

• congenital heart disease

  0.27

• autism spectrum disorder

  0.26

• neurodevelopmental disorder

  0.12

• multiple congenital anomalies/dysmorphic syndrome

  0.12

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

Protein function (UniProt)