ZC4H2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

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

• Clefting

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

• Congenital myopathy

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

• DDG2P

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

• Fetal anomalies

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

• Intellectual disability

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

Disease associations (Open Targets)

• Intellectual disability-developmental delay-contractures syndrome

  0.83

• Wieacker-Wolff syndrome

  0.81

• hereditary disease

  0.52

• Wieacker-Wolff syndrome (spectrum)

  0.44

• X-linked syndromic intellectual disability

  0.37

• X-linked non-syndromic intellectual disability

  0.37

• neurodevelopmental disorder

  0.27

• schwannomatosis

  0.08

• LZTR1-related schwannomatosis

  0.07

• SMARCB1-related schwannomatosis

  0.07

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

Protein function (UniProt)