Leukodystrophy - adult onset
Gene: MTHFR

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This review suggests white matter changes are present in ~70% of those with adolescent/adult onset of MTHFR deficiency.
Created: 2 May 2020, 3:52 a.m. | Last Modified: 2 May 2020, 3:52 a.m.

Panel Version: 0.29

Phenotypes
Homocystinuria due to MTHFR deficiency, MIM# 236250

Publications

29391032

Created: 2 May 2020, 3:52 a.m.
Last Modified: 2 May 2020, 3:52 a.m.
Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Homocystinuria due to MTHFR deficiency, 236250

OMIM

607093

Clinvar variants

Variants in MTHFR

Penetrance

None

Publications

29391032

Panels with this gene

History Filter Activity

2 May 2020, 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).

2 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTHFR were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTHFR was added gene: MTHFR was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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

Leukodystrophy - adult onset Gene: MTHFR