WDR81

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• Dysequilibrium syndrome

  0.78

• cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

  0.77

• Rare hereditary ataxia

  0.71

• hydrocephalus, congenital, 3, with brain anomalies

  0.70

• hereditary disease

  0.47

• cerebellar ataxia, intellectual disability, and dysequilibrium

  0.38

• congenital non-communicating hydrocephalus

  0.37

• congenital communicating hydrocephalus

  0.37

• neurodegenerative disease

  0.35

• microlissencephaly

  0.34

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

Protein function (UniProt)