PanelApp
  1. Genes and Genomic Entities
  2. MTRR

MTRR

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green MTRR in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270

Green MTRR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270

Green MTRR 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
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)

Green MTRR 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
  • Methylmalonic aciduria and homocystinuria

Green MTRR in Red cell disorders


Level 2: Haematological disorders
Version 1.33

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270

Green MTRR in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.57

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type MIM#236270
    • Disorders of the metabolism of sulphur amino acids

    Green MTRR in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Homocystinuria-megaloblastic anaemia, cbl E type, MIM #236270

    Green MTRR in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • methylcobalamin deficiency type cblE MONDO:0009354

    Green MTRR 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
    • BeginNGS
    Phenotypes
    • Methylmalonic aciduria and homocystinuria, MIM#236270
    Tags
    • treatable
    • metabolic

    Green MTRR in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270

    Green MTRR in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cbl E type MIM#236270
    • Disorders of the metabolism of sulphur amino acids