ISCU

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Arthrogryposis

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• hereditary myopathy with lactic acidosis due to ISCU deficiency

  0.72

• COVID-19

  0.37

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• open-angle glaucoma

  0.26

• hereditary disease

  0.19

• myopathy

  0.11

• hyperpituitarism

  0.04

• stroke disorder

  0.04

• alcohol drinking

  0.04

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

Protein function (UniProt)