FOXC2

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

• Fetal hydrops

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary lymphoedema

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Vascular skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare genetic inflammatory skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• CAKUT

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Disease associations (Open Targets)

• lymphedema-distichiasis syndrome

  0.80

• Lymphedema - distichiasis

  0.78

• lymphatic malformation 5

  0.47

• hereditary disease

  0.45

• Non-immune hydrops fetalis

  0.41

• cleft palate

  0.39

• hydrops fetalis

  0.38

• autoimmune disorder of central nervous system

  0.37

• neurodegenerative disease

  0.37

• dentures

  0.16

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

Protein function (UniProt)

Diseases associated with FOXC2

Curated MONDO disease pages that list FOXC2 among their top associated genes.

• hydrops fetalisRare