Early onset or syndromic epilepsy
Gene: MTHFR
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease associationCreated: 3 Dec 2018, 1:49 p.m.
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 3 Dec 2018, 1:46 p.m.
Comment on mode of inheritance: Added MOI from external clinical review and publicationsCreated: 3 Dec 2018, 1:30 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 3 Dec 2018, 1:30 p.m.
Seizures are part of the phenotype.Created: 16 Aug 2018, 12:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Homocystinuria due to MTHFR deficiency, MIM#236250
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to MTHFR.
Source NHS GMS was added to MTHFR.
Zornitza Stark: Seizures are part of the pheno
Gene: mthfr has been classified as Green List (High Evidence).
Publications for gene: MTHFR were set to 29391032; 21778025; 12406076; 12840091; 9587029; 30267335; 24556013
Gene: mthfr has been classified as Green List (High Evidence).
Publications for gene: MTHFR were set to
Mode of inheritance for gene: MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency, 236250; seizures
Expert Review Amber was added to MTHFR. Panel: Genetic Epilepsy Syndromes
MTHFR was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
MTHFR was created by Sarah Leigh