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Prepair 1000+

Gene: TRIT1

Green List (high evidence)

TRIT1 (tRNA isopentenyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
Clinvar variants
Variants in TRIT1
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRIT1 was added gene: TRIT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive