GTPBP3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Combined oxidative phosphorylation defect type 23

  0.79

• neurodegenerative disease

  0.49

• hereditary disease

  0.41

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• Leigh syndrome

  0.19

• hypertrophic cardiomyopathy

  0.15

• pneumoconiosis

  0.03

• macular holes

  0.03

• wet macular degeneration

  0.02

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

Protein function (UniProt)