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DDG2P

Gene: TRIT1

Red List (low evidence)
TRIT1 (tRNA isopentenyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TRIT1-related tRNA isopentenyltransferase deficiency are limited, biallelic_autosomal and undetermined (PMIDs: 24901367, 28185376, 31140736, 32088416, 32948376). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01848.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease tRNA isopentenyltransferase deficiency is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMIDs: 31140736;28185376;32088416;32948376;24901367).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0054742; OMIM:617873.0; TRIT1-related tRNA isopentenyltransferase deficiency; tRNA isopentenyltransferase deficiency

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • tRNA isopentenyltransferase deficiency
Tags
gene-checked
Clinvar variants
Variants in TRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: TRIT1 was changed from Other - please provide details in the comments to None

13 Feb 2026, Gel status: 1

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to TRIT1. Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: TRIT1.

4 Oct 2023, Gel status: 3

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TRIT1. Publications for gene: TRIT1 were updated from 24901367 to 32088416; 28185376; 32948376; 31140736; 24901367 Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: TRIT1 was added gene: TRIT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIT1 were set to 24901367 Phenotypes for gene: TRIT1 were set to tRNA isopentenyltransferase deficiency Mode of pathogenicity for gene: TRIT1 was set to Other - please provide details in the comments