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  3. MTHFR
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Aminoacidopathy

Gene: MTHFR

Green List (high evidence)
MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association with reported individuals having reported elevated homocysteine and decreased methionine.

Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 18/06/2019 - https://search.clinicalgenome.org/CCID:005497
Sources: ClinGen
Created: 19 Jun 2024, 6:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353

Publications

Created: 19 Jun 2024, 6:05 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: mthfr 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: mthfr 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: MTHFR was added gene: MTHFR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 26872964 Phenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Review for gene: MTHFR was set to GREEN