Genomics England
GMS Panels
Panels
Genes and Entities

MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
OMIM: 172460
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
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