SLC25A19

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• progressive demyelinating neuropathy with bilateral striatal necrosis

  0.79

• Amish lethal microcephaly

  0.79

• hereditary disease

  0.19

• hepatocellular carcinoma

  0.09

• colorectal carcinoma

  0.07

• adrenal gland disorder

  0.07

• cancer

  0.05

• neoplasm

  0.05

• systemic lupus erythematosus

  0.03

• microcephaly

  0.02

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

Protein function (UniProt)