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  1. Genes and Genomic Entities
  2. MTR

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase
OMIM: 156570, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green MTR 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, cblG complementation type, MIM# 250940

Green MTR in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940

    Green MTR 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, cblG complementation type, MIM# 250940

    Green MTR 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, cblG complementation type, 250940 (3)

    Green MTR 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 MTR 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, cblG complementation type, MIM# 250940

    Green MTR 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, cblG complementation type, MIM# 250940

    Green MTR 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 cblG MONDO:0009609

    Green MTR 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
    • Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
    Tags
    • treatable
    • haematological

    Green MTR 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 anaemia, cblG complementation type, MIM# 250940

    Green MTR 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, cblG complementation type MIM#250940
    • Organic aciduria