TRIT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  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

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• combined oxidative phosphorylation deficiency 35

  0.80

• neurodegenerative disease

  0.51

• hereditary disease

  0.50

• mitochondrial disease

  0.44

• inborn mitochondrial metabolism disorder

  0.37

• Macrocephaly

  0.27

• Epileptic encephalopathy

  0.27

• breast cancer

  0.24

• breast neoplasm

  0.24

• small cell lung carcinoma

  0.08

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

Protein function (UniProt)