1. Panels
  2. Newborns main panel
  3. MTHFD1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/32414565/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MTHFD1 has two similar genes MTHFD1L and MTHFD1P1. Dahsa - Ive checked the analysis, and this gene has not been picked as the gene with any mapping/variant calling problems. I would I assume the homology is not high enough to cause the problems.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia
OMIM
172460
Clinvar variants
Variants in MTHFD1
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MTHFD1 were changed from Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia to Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia for gene: MTHFD1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MTHFD1. Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia for gene: MTHFD1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MTHFD1. Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia for gene: MTHFD1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MTHFD1. Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia for gene: MTHFD1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MTHFD1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia for gene: MTHFD1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MTHFD1 was added gene: MTHFD1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal