MTHFD1

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green MTHFD1 in Mendeliome Version 2.0	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 2.0	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 1.0	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 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Green MTHFD1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	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 2.0	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