GOSR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• progressive myoclonic epilepsy type 6

  0.75

• Progressive myoclonic epilepsy

  0.70

• muscular dystrophy, congenital, with or without seizures

  0.69

• neurodegenerative disease

  0.53

• hereditary disease

  0.50

• hypertensive disorder

  0.46

• atrial fibrillation

  0.41

• coronary artery disorder

  0.41

• progressive myoclonus epilepsy

  0.38

• cardiovascular disorder

  0.35

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

Protein function (UniProt)