TRMU

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
OMIM: 610230
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Liver failure, transient infantile, OMIM:613070
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
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
R-numbers: R317
Signed-off version 1.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIVER FAILURE, INFANTILE, TRANSIENT, 613070
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIVER FAILURE, INFANTILE, TRANSIENT, 613070