Early onset or syndromic epilepsy

Gene: TRIT1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:25 p.m.

Panel Version: 5.6

Comment on list classification: Promoting this gene to amber with a recommendation for green rating following GMS review.

Created: 7 Jan 2024, 5:56 p.m. | Last Modified: 7 Jan 2024, 5:56 p.m.

Panel Version: 4.143

Associated with Combined oxidative phosphorylation deficiency 35, OMIM: 617873 (AR)

4 cases reported with biallelic variants in this gene and a syndromic phenotype that includes epilepsy.

PMID: 28185376 - Kernohan et al 2017 - report 4 individuals from 3 unrelated families with recessive mutations in TRIT1 identified by WES and confirmed by Sanger sequencing. Parents were heterozygous for the variants. All patients presented with syndrome features which included microcephaly, profound developmental delay, hypotonia, epilepsy, and brain anomalies.

PMID: 24901367 - Yarham et al 2014 - used WES to identify a homozygous p.Arg323Gln mutation in the TRIT1 gene in 2 affected children that segregates within a consanguineous UK-Pakistani family. The children encephalopathy and myoclonic epilepsy.
Sources: Literature

Created: 7 Jan 2024, 5:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742

Publications

• 28185376
• 24901367