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  3. MTRR
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Fetal anomalies

Gene: MTRR

Red List (low evidence)
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTRR gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to MTRR. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MTRR was added gene: MTRR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE