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Severe Paediatric Disorders

Gene: MTHFD1

Green List (high evidence)

MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000100714
EnsemblGeneIds (GRCh37): ENSG00000100714
OMIM: 172460, Gene2Phenotype
MTHFD1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MTHFD1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
172460
Clinvar variants
Variants in MTHFD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MTHFD1 were updated from to 30847515