MARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• spastic ataxia 3

  0.73

• Autosomal recessive spastic ataxia with leukoencephalopathy

  0.70

• combined oxidative phosphorylation defect type 25

  0.63

• neurodegenerative disease

  0.54

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• lysosomal storage disease

  0.26

• cervical carcinoma

  0.23

• obesity disorder

  0.13

• overnutrition

  0.12

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