RARS2

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

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• pontocerebellar hypoplasia type 6

  0.81

• pontocerebellar hypoplasia

  0.70

• Non-syndromic pontocerebellar hypoplasia

  0.53

• hereditary disease

  0.52

• epilepsy

  0.46

• mitochondrial disease

  0.44

• inborn mitochondrial metabolism disorder

  0.37

• isolated cerebellar hypoplasia/agenesis

  0.32

• Loss of consciousness

  0.28

• neurodegenerative disease

  0.27

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

Protein function (UniProt)