YARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  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

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Mitochondrial myopathy and sideroblastic anemia

  0.79

• mitochondrial disease

  0.51

• neurodegenerative disease

  0.48

• inborn mitochondrial metabolism disorder

  0.37

• myopathy, lactic acidosis, and sideroblastic anemia

  0.37

• hereditary disease

  0.19

• alcohol drinking

  0.15

• pericarditis

  0.14

• atrial fibrillation

  0.11

• colorectal carcinoma

  0.07

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

Protein function (UniProt)