ZIC3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Clefting

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Familial non syndromic congenital heart disease

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hydrocephalus

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Laterality disorders and isomerism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Limb disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• heterotaxy, visceral, 1, X-linked

  0.80

• VACTERL association, X-linked, with or without hydrocephalus

  0.77

• congenital heart defects, multiple types, 1, X-linked

  0.66

• visceral heterotaxy

  0.60

• Heterotaxia

  0.56

• neurodegenerative disease

  0.51

• anorectal malformation

  0.37

• hereditary disease

  0.34

• Alzheimer disease

  0.28

• lysosomal storage disease

  0.28

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

Protein function (UniProt)