Adult onset leukodystrophy
Gene: MTHFR
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria due to MTHFR deficiency, 236250
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
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
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
Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685; 29391032
Publications for gene: MTHFR were set to 27159321; 25527826; 28334938; 20301621; 24357685
Publications for gene MTHFR were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to MTHFR. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to MTHFR.
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