DARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  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

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Leukoencephalopathy with brain stem and spinal cord involvement - high lactate

  0.84

• leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

  0.79

• neurodegenerative disease

  0.53

• hereditary disease

  0.52

• gout

  0.43

• Gait ataxia

  0.43

• EMG: axonal abnormality

  0.43

• Impaired vibration sensation in the lower limbs

  0.43

• Gait imbalance

  0.43

• hypertensive disorder

  0.43

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

Protein function (UniProt)