TARS2

threonyl-tRNA synthetase 2, mitochondrial (putative)
OMIM: 612805, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber TARS2 in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 combined oxidative phosphorylation defect type 21, MONDO:0014398
Green TARS2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918
Green TARS2 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918
Amber TARS2 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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
Amber TARS2 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	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
Green TARS2 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398
Green TARS2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918