Familial Neural Tube Defects
Gene: MTRR
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 13 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
- 602568
- Clinvar variants
- Variants in MTRR
- Penetrance
- Complete
- Panels with this gene
-
- Familial Meniere Disease
- Familial Neural Tube Defects
- Intellectual disability
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Rare anaemia
- Proteinuric renal disease
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Hyperammonaemia
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: 0
Created
Olivia Niblock (Genomics England Curator)MTRR was created by oniblock
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)MTRR was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen