PUS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  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

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Mitochondrial myopathy and sideroblastic anemia

  0.82

• myopathy, lactic acidosis, and sideroblastic anemia

  0.64

• mitochondrial disease

  0.40

• inborn mitochondrial metabolism disorder

  0.37

• Intellectual disability

  0.37

• sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1

  0.34

• hereditary disease

  0.19

• hepatocellular carcinoma

  0.10

• neoplasm

  0.10

• renal cell carcinoma

  0.08

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

Protein function (UniProt)