Miscellaneous Metabolic Disorders
Gene: MTRR
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 GMSCreated: 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
Gene: mtrr has been classified as Green List (High Evidence).
Gene: mtrr has been classified as Green List (High Evidence).
gene: MTRR was added gene: MTRR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS 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