PanelApp
  1. Genes and Genomic Entities
  2. TRMU

TRMU

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber TRMU in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Liver failure, transient infantile, MIM# 613070

    Green TRMU in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Liver failure, transient infantile, MIM# 613070

    Green TRMU in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green TRMU in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Liver failure, transient infantile, 613070 (3)

    Green TRMU in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Liver failure, transient infantile

    Green TRMU in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Liver failure, transient infantile, MIM# 613070

    Green TRMU in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Liver failure, transient infantile MIM# 613070
    • acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111

    Green TRMU in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Liver failure, transient infantile MIM# 613070
    Tags
    • treatable
    • liver

    Green TRMU in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Liver failure, transient infantile MIM# 613070
    • acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111