Proteinuric renal disease
Gene: MTR
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: MTR; Suggested initial gene rating: amber; Evidence for inclusion: none provided; Other comments: Unaware of phenotype association with this geneCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria-megaloblastic anemia, cblG complementation type #250940
phenotype does not fitCreated: 19 Oct 2015, 1:28 p.m.
Source NHS GMS was added to MTR.
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)
This gene has been classified as Red List (Low Evidence).
MTR was added to Proteinuric renal diseasepanel. Sources: Radboud University Medical Center, Nijmegen