Cytopenias and congenital anaemias
Gene: MTR
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR 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 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
- OMIM
- 156570
- Clinvar variants
- Variants in MTR
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- DDG2P
- Rare anaemia
- Hyperammonaemia
- Likely inborn error of metabolism
- Familial Neural Tube Defects
- Early onset or syndromic epilepsy
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
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
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: 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 Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for MTR was changed to BIALLELIC, autosomal or pseudoautosomal
8 Mar 2017, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)MTR was created by LouiseD
17 Feb 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)MTR was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen