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  3. MTHFR
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Adult onset leukodystrophy

Gene: MTHFR

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

4 reviews

David Lynch (UCL Institute of Neurology)

Green List (high evidence)

Created: 13 Sep 2019, 4:20 p.m.
Last Modified: 13 Sep 2019, 4:20 p.m.
Panel version: 0.19

Catherine Snow (Genomics England)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria due to MTHFR deficiency, 236250

Created: 24 Jul 2019, 2:49 p.m.
Last Modified: 24 Jul 2019, 2:49 p.m.
Panel version: 0.14

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.
Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Created: 4 Jul 2019, 4:32 p.m.
Last Modified: 4 Jul 2019, 4:32 p.m.
Panel version: 0.10

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Adolescent/late onset homocystinuria caused by reduced MTHFR activity associated with white matter abnormalities in the majority of patients see Gales et al. 2018 PMID: 29391032 and we have identified two patients with adolescent/early adult onset through clinical testing.
Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:06 p.m.
Last Modified: 4 Jul 2019, 4:06 p.m.
Panel version: 0.9

History Filter Activity

24 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR

11 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685; 29391032

11 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685

4 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MTHFR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685

4 Jul 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MTHFR. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MTHFR.

4 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MTHFR was added gene: MTHFR was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MTHFR was set to