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Prepair 1000+

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

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: there are two very common variants in this gene that are not associated with severe disease (665C>T & 1286A>C)
Created: 29 Jan 2025, 4:02 a.m. | Last Modified: 6 Feb 2025, 1:11 a.m.
Panel Version: 1.1457

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria due to MTHFR deficiency, MIM# 236250

Publications

History Filter Activity

30 Jan 2025, 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).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTHFR were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3) for gene: MTHFR

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTHFR was added gene: MTHFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)