TRMT5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy or pain disorder

  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

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Combined oxidative phosphorylation defect type 26

  0.76

• neurodegenerative disease

  0.50

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• hereditary disease

  0.19

• liver disorder

  0.13

• Intellectual disability

  0.12

• urticaria

  0.09

• primary angle-closure glaucoma

  0.08

• diabetes mellitus

  0.07

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

Protein function (UniProt)