Familial Neural Tube Defects
Gene: MTHFR
MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
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
-
- DDG2P
- Cerebral folate deficiency
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Pneumothorax - familial
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Familial Neural Tube Defects
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