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  3. MTR
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Unexplained kidney failure in young people

Gene: MTR

Red List (low evidence)
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
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
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
OMIM
156570
Clinvar variants
Variants in MTR
Penetrance
Complete
Panels with this gene

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; (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)

17 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

16 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MTR was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MTR was created by sleigh