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| Ataxia v2.147 | TARS2 |
Sangavi Sivagnanasundram gene: TARS2 was added gene: TARS2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS2 were set to 37454282 Phenotypes for gene: TARS2 were set to combined oxidative phosphorylation defect type 21, MONDO:0014398 Review for gene: TARS2 was set to GREEN Added comment: PMID 37454282 reports at least 5 unrelated families with biallelic TARS2 variants presenting with combined oxidative phosphorylation deficiency type 21, a mitochondrial disorder characterised by developmental delay, intellectual disability, progressive cerebellar ataxia, hypotonia, seizures and elevated lactate. Some of the affected individuals presented with an ataxic gait as well. Sources: Literature |
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