NUS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• intellectual disability, autosomal dominant 55, with seizures

  0.71

• congenital disorder of glycosylation type I

  0.60

• type 2 diabetes mellitus

  0.50

• hereditary disease

  0.47

• hereditary ataxia

  0.46

• Rare hereditary ataxia

  0.46

• progressive myoclonus epilepsy

  0.38

• movement disorder

  0.38

• retinitis pigmentosa

  0.37

• undetermined early-onset epileptic encephalopathy

  0.37

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

Protein function (UniProt)