Genomics England

TRMU

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Liver failure, transient infantile, OMIM:613070
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes {Deafness, mitochondrial, modifier of}, 580000, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Liver failure, transient infantile, 613070
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), {Deafness, mitochondrial, modifier of}, 580000, Liver failure, transient infantile, 613070
Green in Mitochondrial liver disease, including transient infantile liver failure R-numbers: R317 Signed-off version 1.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LIVER FAILURE, INFANTILE, TRANSIENT, 613070