Familial Neural Tube Defects
Gene: MTR
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neural tube defects,folate sensitive,susceptibility to
- OMIM
- 156570
- Clinvar variants
- Variants in MTR
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Early onset or syndromic epilepsy
- Intellectual disability
- Familial Neural Tube Defects
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Proteinuric renal disease
- Fetal anomalies
- DDG2P
- Familial Meniere Disease
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.
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)MTR was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)MTR was created by oniblock