Early onset or syndromic epilepsy

Gene: TARS2

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, 4:49 p.m. | Last Modified: 19 Feb 2025, 4:49 p.m.

Panel Version: 7.34

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, 4:45 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

• 39394138
• 33153448
• 34508595
• 37454282