Genomics England

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

Panel	Mode of inheritance	Details
Filter panels7 panels
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 R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 12, 614924, Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL), Drug-refractory seizures, Epilepsy
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 12, OMIM:614924
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 12, MIM#614924
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 12, 614924, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 12, 614924
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 12, 614924
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy, Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL), Combined oxidative phosphorylation deficiency 12