Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methionine synthase deficiency, cblG defect
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 156570
- Clinvar variants
- Variants in MTR
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- DDG2P
- Rare anaemia
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Familial Neural Tube Defects
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Familial Meniere Disease
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)MTR was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory