This Panel is marked as Internal
Renal and urinary tract disorders
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
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Homocystinuria-megaloblastic anemia, cbl E type, 236270
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- OMIM
- 602568
- Clinvar variants
- Variants in MTRR
- Penetrance
- None
- Panels with this gene
-
- Familial Meniere Disease
- Familial Neural Tube Defects
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Intellectual disability
- Rare anaemia
- Proteinuric renal disease
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MTRR was added gene: MTRR was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: MTRR was set to Unknown Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel)