Genomics England

TARS2

threonyl-tRNA synthetase 2, mitochondrial (putative)

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM: 615918, combined oxidative phosphorylation defect type 21,NDO:0014398
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM: 615918, combined oxidative phosphorylation defect type 21,NDO:0014398
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918