1. Genes and Genomic Entities
  2. MTRR

MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase
OMIM: 602568, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red MTRR in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Red MTRR in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neural tube defects,folate sensitive,susceptibility to
Red MTRR in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Green MTRR in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
Red MTRR in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, 236270
    • (originally on the Imerslund-Grasbeck syndrome gene panel)
    Green MTRR in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, 236270
    • 236270 Homocystinuria-megaloblastic anemia, cbl E type
    Red MTRR in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, 236270
    • (originally on the Imerslund-Grasbeck syndrome gene panel)
    Green MTRR 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
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type 236270
    • {Neural tube defects, folate-sensitive, susceptibility to} 601634
    Green MTRR in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    • Homocystinuria-megaloblastic anemia, cbl E type
    Red MTRR in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
    Green MTRR in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270
    Green MTRR in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634
    • HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
    Red MTRR in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, 236270
    • (originally on the Imerslund-Grasbeck syndrome gene panel)
    Red MTRR in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green MTRR in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, 236270