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  2. Familial Neural Tube Defects
  3. MTHFR
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Familial Neural Tube Defects

Gene: MTHFR

Red List (low evidence)
MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Susceptibility to neural tube defects
  • Neural tube defects,folate sensitive,susceptibility to
OMIM
607093
Clinvar variants
Variants in MTHFR
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Oct 2016, Gel status: 1

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.

25 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Sep 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

MTHFR was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services

22 Sep 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

MTHFR was created by oniblock

22 Sep 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

MTHFR was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen