1. Panels
  2. Vitamin metabolism disorders
  3. MTRR
STRs in panel
Prev Next
Regions in panel
Prev Next

Vitamin metabolism disorders

Gene: MTRR

Green List (high evidence)
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association(see OMIM entry). Homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of sulphur amino acid metabolism.
Sources: NHS GMS
Created: 7 Feb 2021, 1:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2021, 1:56 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type MIM#236270
  • Disorders of the metabolism of sulphur amino acids
OMIM
602568
Clinvar variants
Variants in MTRR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mtrr has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mtrr has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MTRR was added gene: MTRR was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 27604308; 9501215 Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids Review for gene: MTRR was set to GREEN gene: MTRR was marked as current diagnostic