Familial Neural Tube Defects

Gene: MTHFD1

Red List (low 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

Olivia Niblock (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to spina bifida

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Susceptibility to spina bifida
OMIM
172460
Clinvar variants
Variants in MTHFD1
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Oct 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.

22 Sep 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

MTHFD1 was created by oniblock

22 Sep 2016, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

MTHFD1 was added to Familial Neural Tube Defectspanel. Sources: Other