PanelApp
  1. Genes and Genomic Entities
  2. MTHFR

MTHFR

methylenetetrahydrofolate reductase
OMIM: 607093, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green MTHFR in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Homocystinuria due to MTHFR deficiency MIM#236250
  • Disorders of folate metabolism and transport

Green MTHFR 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
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Homocystinuria due to MTHFR deficiency MIM#236250

    Green MTHFR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green MTHFR 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 due to MTHFR deficiency MIM#236250
    • Disorders of folate metabolism and transport

    Green MTHFR in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.151

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Homocystinuria due to MTHFR deficiency, 236250

    Green MTHFR 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 due to MTHFR deficiency, 236250 (3)

    Amber MTHFR in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Homocystinuria due to MTHFR deficiency

    Green MTHFR 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 due to MTHFR deficiency MIM#236250
    • Disorders of folate metabolism and transport

    Green MTHFR in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Homocystinuria due to MTHFR deficiency, MIM# 236250

    Green MTHFR 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
    • homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353

    Red MTHFR in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category B gene
    Phenotypes
    • Homocystinuria due to MTHFR deficiency MIM#236250

    Green MTHFR in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Homocystinuria due to MTHFR deficiency, MIM# 236250

    Green MTHFR in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
    • Disorders of folate metabolism

    Amber MTHFR in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Homocystinuria due to MTHFR deficiency MIM#236250
    • Recurrent pregnancy loss susceptibility