SLC19A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• thiamine-responsive megaloblastic anemia syndrome

  0.82

• diabetes mellitus

  0.52

• ear malformation

  0.34

• Sensorineural hearing impairment

  0.34

• Abnormality of the ear

  0.34

• blood coagulation disease

  0.34

• heart disorder

  0.33

• deep vein thrombosis

  0.32

• Thrombophlebitis

  0.30

• phlebitis

  0.30

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

Protein function (UniProt)