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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: MTRR

Red List (low evidence)

MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 15 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cbl E type, 236270; {Neural tube defects, folate-sensitive, susceptibility to}, 601634;

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MTRR was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MTRR was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE