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  3. MTR
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Vitamin metabolism disorders

Gene: MTR

Green List (high evidence)
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association(see OMIM entry). Methionine synthase deficiency-cblG 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, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria

Publications

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

Created: 7 Feb 2021, 1:49 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.255

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940
  • Organic aciduria
OMIM
156570
Clinvar variants
Variants in MTR
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: mtr 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: mtr 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: MTR was added gene: MTR was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 8968735; 27604308 Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria Review for gene: MTR was set to GREEN gene: MTR was marked as current diagnostic