IBA57

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  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

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• multiple mitochondrial dysfunctions syndrome 3

  0.79

• hereditary spastic paraplegia 74

  0.70

• Hypotonia-cerebral atrophy-hyperglycinemia syndrome

  0.66

• Fatal multiple mitochondrial dysfunction syndrome

  0.57

• neurodegenerative disease

  0.45

• hereditary disease

  0.41

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• cardiomyopathy

  0.16

• aging

  0.12

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

Protein function (UniProt)