WARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  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

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

  0.81

• parkinsonism-dystonia 3, childhood-onset

  0.71

• neurodegenerative disease

  0.56

• hereditary disease

  0.48

• androgenetic alopecia

  0.41

• mitochondrial disease

  0.40

• inborn mitochondrial metabolism disorder

  0.37

• Infantile dystonia-parkinsonism

  0.37

• parkinsonism-dystonia, infantile

  0.37

• colorectal cancer

  0.32

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

Protein function (UniProt)