PanelApp (staging)
  1. Genes and Genomic Entities
  2. MTHFD1

MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
OMIM: 172460, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MTHFD1 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780

Green MTHFD1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
    • Decreased Ig levels
    • poor antibody responses to conjugated polysaccharide antigens
    • low B/T/NK cells
    • Recurrent bacterial infection
    • megaloblastic anaemia
    • failure to thrive
    • neutropenia
    • seizures
    • intellectual disability
    • folate-responsive
    • Lymphopaenia

    Green MTHFD1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive

    Green MTHFD1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive

    Green MTHFD1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
    Tags
    • treatable
    • immunological
    • haematological

    Green MTHFD1 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
    • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611
    • Disorders of folate metabolism