Vitamin metabolism disorders
Gene: MTHFR
MTHFR (methylenetetrahydrofolate reductase)
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000177000
EnsemblGeneIds (GRCh37): ENSG00000177000
OMIM: 607093, Gene2Phenotype
MTHFR is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353
- Disorders of folate metabolism
- OMIM
- 607093
- Clinvar variants
- Variants in MTHFR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Vitamin metabolism disorders
- Regression
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MTHFR was added gene: MTHFR was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 7920641; 26872964 Phenotypes for gene: MTHFR were set to Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353; Disorders of folate metabolism