RNF170

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• spastic paraplegia 85, autosomal recessive

  0.71

• autosomal dominant sensory ataxia 1

  0.71

• Spastic paraplegia

  0.42

• neurodegenerative disease

  0.37

• neurodevelopmental disorder

  0.34

• hereditary disease

  0.34

• bilirubin metabolism disease

  0.25

• hereditary spastic paraplegia

  0.07

• genetic developmental and epileptic encephalopathy

  0.06

• undetermined early-onset epileptic encephalopathy

  0.06

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

Protein function (UniProt)