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Intellectual disability

Gene: TARS2

Amber List (moderate evidence)
TARS2 (threonyl-tRNA synthetase 2, mitochondrial (putative))
EnsemblGeneIds (GRCh38): ENSG00000143374
EnsemblGeneIds (GRCh37): ENSG00000143374
OMIM: 612805, Gene2Phenotype
TARS2 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39394138 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 19 Feb 2025, 4:51 p.m. | Last Modified: 19 Feb 2025, 4:51 p.m.
Panel Version: 8.93
Numerous biallelic TARS2 variants have been associated with Combined oxidative phosphorylation deficiency 21 (OMIM: 615918) in cases from around the world. A summary of TARS2 variants and associated clinical features is presented in Supplementary Table 1, in PMID: 39394138. There at least 30 variants in 32 cases within 27 families. In eight of the families, the children had died before their second birthdays, all of the cases in the remaining 19 families were in special care, with a maximum age of 27 years. Epilepsy was evident in 15/24 families where an assessment was possible, psychomotor delay was evident in 25/26 families and brain MRI anomalies were apparent in 21/23 families.
Sources: Literature
Created: 19 Feb 2025, 4:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 21, OMIM: 615918; combined oxidative phosphorylation defect type 21,NDO:0014398

Publications

Created: 19 Feb 2025, 4:46 p.m.

Panel version: 8.91

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, OMIM: 615918
  • combined oxidative phosphorylation defect type 21,NDO:0014398
Tags
Q1_25_ promote_green
OMIM
612805
Clinvar variants
Variants in TARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Feb 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TARS2 were set to 39394138; 33153448; 34508595; 37454282

19 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tars2 has been classified as Amber List (Moderate Evidence).

19 Feb 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: TARS2 was added gene: TARS2 was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: TARS2. Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS2 were set to 39394138; 33153448; 34508595; 37454282 Phenotypes for gene: TARS2 were set to Combined oxidative phosphorylation deficiency 21, OMIM: 615918; combined oxidative phosphorylation defect type 21,NDO:0014398 Review for gene: TARS2 was set to GREEN