Cytopenias and congenital anaemias
Gene: MTRRComment on list classification: Updated rating from Red to Green: Helen Brittain agrees that megaloblastic anemia phenotype caused by MTRR 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:236270.Created: 9 Mar 2017, 11:53 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, 11:39 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, 10:19 a.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Mode of inheritance for MTRR was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270
This gene has been classified as Green List (High Evidence).
Publications for MTRR were set to 9501215; 12555939; 15714522
MTRR was created by LouiseD
MTRR was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen