Genomics England

MTO1

mitochondrial tRNA translation optimization 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 10, 614702
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 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 10, 614702, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), infantile hypertrophic cardiomyopathy and lactic acidosis.
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 10, 614702, infantile hypertrophic cardiomyopathy and lactic acidosis.
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 10, OMIM:614702, mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MONDO:0013865
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 10, 614702