This Panel is marked as Internal
Congenital anaemias
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
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
- {Neural tube defects, folate-sensitive, susceptibility to}, 601634
- OMIM
- 156570
- Clinvar variants
- Variants in MTR
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- DDG2P
- Rare anaemia
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Familial Neural Tube Defects
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
30 Jan 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634 to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MTR was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()MTR was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen