Cytopenias and congenital anaemias
Gene: MTRComment on list classification: Updated rating from Red to Green: Helen Brittain agrees that megaloblastic anemia phenotype caused by MTR should be included on the panel as can show as recurrent / persistent anaemia. >3 cases supporting genotype:phenotype, and confirmed DD-G2P gene for MIM:250940.Created: 9 Mar 2017, 11:52 a.m.
Comment when marking as ready: Rated green after discussions with clinical team. Megaloblastic anemia is relevant phenotype, and sufficient cases to support causation.Created: 9 Mar 2017, 11:40 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.Created: 8 Mar 2017, 10:29 a.m.
Discussed 'megaloblastic anemia' (larger red blood cells and low red blood cell count) with Arianna who agreed to include on panel since it's relevant phenotype in terms of recurrent / persistent anaemia.Created: 8 Mar 2017, 10:29 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MTR was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
MTR was created by LouiseD
MTR was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen