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Cytopenias and congenital anaemias

Gene: MTRR

Green List (high evidence)

MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment 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.

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MTRR was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270

8 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

8 Mar 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MTRR were set to 9501215; 12555939; 15714522

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MTRR was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MTRR was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen