CASK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albinism or congenital nystagmus

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

• Ataxia and cerebellar anomalies - narrow panel

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

• Cerebellar hypoplasia

  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)

• Early onset or syndromic epilepsy

  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)

• Hereditary ataxia

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

• Hereditary ataxia with onset in adulthood

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

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Disease associations (Open Targets)

• X-linked intellectual disability, Najm type

  0.83

• syndromic X-linked intellectual disability Najm type

  0.82

• FG syndrome 4

  0.80

• cask-related x-linked intellectual disability

  0.67

• FG syndrome

  0.57

• hereditary disease

  0.53

• Intellectual disability

  0.48

• pontocerebellar hypoplasia

  0.47

• X-linked non-syndromic intellectual disability

  0.47

• developmental disability

  0.46

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

Protein function (UniProt)