PARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• genetic developmental and epileptic encephalopathy

  0.64

• neurodegenerative disease

  0.56

• Alpers syndrome

  0.53

• hereditary disease

  0.38

• undetermined early-onset epileptic encephalopathy

  0.37

• Abnormality of the gastrointestinal tract

  0.30

• adolescent idiopathic scoliosis

  0.28

• mitochondrial disease

  0.19

• inborn mitochondrial metabolism disorder

  0.19

• myoepithelial tumor

  0.11

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

Protein function (UniProt)