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  3. MTRR
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Proteinuric renal disease

Gene: MTRR

Red List (low evidence)
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 13 panels

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: MTRR; Suggested initial gene rating: amber; Evidence for inclusion: none provided; Other comments: Unaware of phenotype association with this gene
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cbl E type #236270

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

Maggie Williams (North Bristol NHS Trust)

Red List (low evidence)

phenotype does not fit
Created: 19 Oct 2015, 1:29 p.m.
Created: 19 Oct 2015, 1:29 p.m.

Panel version: 0

Details

Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
OMIM
602568
Clinvar variants
Variants in MTRR
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to MTRR.

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTRR was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen