TRMU

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
OMIM: 610230
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIVER FAILURE, INFANTILE, TRANSIENT, 613070
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIVER FAILURE, INFANTILE, TRANSIENT, 613070