1. Panels
  2. Aminoacidopathy
  3. MTRR
STRs in panel
Prev Next
Regions in panel
Prev Next

Aminoacidopathy

Gene: MTRR

Green List (high evidence)
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
EnsemblGeneIds (GRCh38): ENSG00000124275
EnsemblGeneIds (GRCh37): ENSG00000124275
OMIM: 602568, Gene2Phenotype
MTRR is in 11 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association with reported individuals having errors in cobalamin metabolism.

Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005505
Sources: ClinGen
Created: 19 Jun 2024, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
methylcobalamin deficiency type cblE MONDO:0009354

Publications

Created: 19 Jun 2024, 6:20 a.m.

Panel version: 1.66

History Filter Activity

16 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtrr has been classified as Green List (High Evidence).

16 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtrr has been classified as Green List (High Evidence).

19 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: MTRR was added gene: MTRR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 10484769; 12555939; 15714522; 17369066 Phenotypes for gene: MTRR were set to methylcobalamin deficiency type cblE MONDO:0009354 Review for gene: MTRR was set to GREEN