TRIT1:Ensemblv115

tRNA isopentenyltransferase 1
OMIM: 617840, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red TRIT1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, MIM#617873

Green TRIT1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 35 MIM#617873

Green TRIT1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive

Green TRIT1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 35 MIM#617873