TCF12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Common craniosynostosis syndromes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hydrocephalus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Differences in sex development

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• TCF12-related craniosynostosis

  0.80

• craniosynostosis

  0.63

• hypogonadotropic hypogonadism 26 with or without anosmia

  0.60

• Kallmann syndrome

  0.55

• Coronal craniosynostosis

  0.53

• hereditary disease

  0.52

• neurodegenerative disease

  0.46

• isolated brachycephaly

  0.46

• open-angle glaucoma

  0.44

• autism spectrum disorder

  0.43

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

Protein function (UniProt)