TRMU

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
OMIM: 610230, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TRMU in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Liver failure, transient infantile 613070
Green TRMU in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Liver failure, transient infantile, OMIM:613070
Green TRMU in Mitochondrial liver disease, including transient infantile liver failure Version 1.12 Latest signed off version: v1.9 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Green TRMU in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) {Deafness, mitochondrial, modifier of}, 580000 Liver failure, transient infantile, 613070
Green TRMU in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 TRMU in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Red TRMU in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Liver failure, transient infantile, OMIM:613070
Red TRMU in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.41 Latest signed off version: v4.39 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes {Deafness, mitochondrial, modifier of}, 580000 {Deafness,mitochondrial,modifierof},580000
Green TRMU in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) {Deafness, mitochondrial, modifier of}, 580000 Liver failure, transient infantile, 613070
Red TRMU in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green TRMU in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Liver failure, transient infantile, 613070