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Aminoacidopathy

Gene: MTR

Green List (high evidence)
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116984
EnsemblGeneIds (GRCh37): ENSG00000116984
OMIM: 156570, Gene2Phenotype
MTR is in 11 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association with reported individuals having a deficiency methionine synthase.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005503
Sources: ClinGen
Created: 19 Jun 2024, 6:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
methylcobalamin deficiency type cblG MONDO:0009609

Publications

Created: 19 Jun 2024, 6:14 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: mtr 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: mtr 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: MTR was added gene: MTR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 12068375; 30651581; 31951343 Phenotypes for gene: MTR were set to methylcobalamin deficiency type cblG MONDO:0009609 Review for gene: MTR was set to GREEN