ISCA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• multiple mitochondrial dysfunctions syndrome 4

  0.77

• Fatal multiple mitochondrial dysfunction syndrome

  0.56

• optic atrophy

  0.43

• neurodegenerative disease

  0.42

• hereditary disease

  0.41

• Leber hereditary optic neuropathy

  0.37

• hereditary optic atrophy

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• Fatal multiple mitochondrial dysfunction syndrome type 2

  0.27

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

Protein function (UniProt)

Diseases associated with ISCA2

Curated MONDO disease pages that list ISCA2 among their top associated genes.

• optic atrophyRare