MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
OMIM: 172460, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red MTHFD1 in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Susceptibility to spina bifida

Green MTHFD1 in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
  • Combined immunodeficiencies with associated or syndromic features
  • Defects of Vitamin B12 and Folate metabolism

Green MTHFD1 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
  • Defects of Vitamin B12 and Folate metabolism
  • Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
  • Combined immunodeficiencies with associated or syndromic features

Red MTHFD1 in Cytopenia - NOT Fanconi anaemia


Version 1.70
Latest signed off version: v1.29 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780

Red MTHFD1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • {Spina bifida, folate-sensitive, susceptibility to} 601634 AR
  • {Abruptio placentae, susceptibility to}

Red MTHFD1 in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • {Abruptio placentae, susceptibility to}
    • {Spina bifida, folate-sensitive, susceptibility to} 601634 AR

    Green MTHFD1 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780