IARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  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

• Childhood onset dystonia, chorea or related movement disorder

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

  0.71

• Leigh syndrome

  0.55

• hereditary disease

  0.42

• neurodegenerative disease

  0.41

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• cataract

  0.34

• peripheral neuropathy

  0.34

• Alzheimer disease

  0.28

• multiple sclerosis

  0.27

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

Protein function (UniProt)