This Panel is marked as Internal
Non-Fanconi anaemia
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
1 review
Helen Savage (Congenica Ltd)
Phenotype not sufficient to meet inclusion criteria.Created: 10 Feb 2016, 3:19 p.m.
Phenotypes
Homocystinuria-megaloblastic anemia
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634
- OMIM
- 602568
- Clinvar variants
- Variants in MTRR
- Penetrance
- Complete
- Panels with this gene
-
- Rare anaemia
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Familial Neural Tube Defects
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- DDG2P
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MTRR was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MTRR was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MTRR was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen