04 Feb 2019
Proteinuric renal disease v1.16
MTRR
Eleanor Williams reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cbl E type #236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Feb 2019
Proteinuric renal disease v1.16
MTR
Eleanor Williams reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type #250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Feb 2019
Proteinuric renal disease v1.15
MTRR
Eleanor Williams Source NHS GMS was added to MTRR.
04 Feb 2019
Proteinuric renal disease v1.15
MTR
Eleanor Williams Source NHS GMS was added to MTR.
30 Jan 2019
Proteinuric renal disease v1.14
MTR
Eleanor Williams 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)