Renal and urinary tract disorders
Gene: MTREnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 14 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
- {Neural tube defects, folate-sensitive, susceptibility to}, 601634
- (originally on the Imerslund-Grasbeck syndrome gene panel)
- OMIM
- 156570
- Clinvar variants
- Variants in MTR
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Rare anaemia
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Childhood onset dystonia, chorea or related movement disorder
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Intellectual disability
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Familial Meniere Disease
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
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; (originally on the Imerslund-Grasbeck syndrome gene panel) to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MTR was added gene: MTR was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: MTR was set to Unknown Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel)