NODAL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial Neural Tube Defects

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Holoprosencephaly

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Laterality disorders and isomerism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• heterotaxy, visceral, 5, autosomal

  0.78

• visceral heterotaxy

  0.66

• Heterotaxia

  0.64

• Situs inversus totalis

  0.40

• Abnormal heart morphology

  0.38

• septopreoptic holoprosencephaly

  0.38

• alobar holoprosencephaly

  0.38

• semilobar holoprosencephaly

  0.37

• lobar holoprosencephaly

  0.37

• midline interhemispheric variant of holoprosencephaly

  0.37

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

Protein function (UniProt)