Combined Immunodeficiency
Gene: MTHFD1EnsemblGeneIds (GRCh38): ENSG00000100714
EnsemblGeneIds (GRCh37): ENSG00000100714
OMIM: 172460, Gene2Phenotype
MTHFD1 is in 6 panels
1 review
Danielle Ariti (University of Melbourne)
8 individuals from 4 unrelated families have been reported; multiple mouse models
7 individuals were Compound heterozygous (nonsense & missense) and 1 was homozygous (missense) for MTHFD1 variants often resulting in alteration of highly conserved residues in binding-sites.
Individuals typically present with megaloblastic anaemia, atypical hemolytic uremic syndrome, hyperhomocysteinaemia, microangiopathy, recurrent infections and autoimmune diseasesCreated: 24 Aug 2021, 12:53 a.m. | Last Modified: 24 Aug 2021, 12:53 a.m.
Panel Version: 0.365
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 172460
- Clinvar variants
- Variants in MTHFD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mthfd1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MTHFD1 were changed from to 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MTHFD1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MTHFD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MTHFD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MTHFD1 was added gene: MTHFD1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MTHFD1 was set to Unknown