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Intellectual disability

Gene: TRIT1

Green List (high evidence)

TRIT1 (tRNA isopentenyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 14 Nov 2017, 11 a.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

3 unrelated cases to support ID causation: PMID:28185376 (2017) describe 4 individuals from 3 unrelated (US and Canadian) families with compound heterozygous mutations in TRIT1: ID and/or developmental delay was reported in all 3 families. They also note ID and DD in a UK-Pakistani family with a homozygous TRIT1 p.Arg323Gln variant from PMID:24901367.
Created: 31 Oct 2017, 11:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • developmental delay
Clinvar variants
Variants in TRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TRIT1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TRIT1 was added to Intellectual disability panel. Sources: Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

TRIT1 was created by Ellen McDonagh