Early onset or syndromic epilepsy

Gene: MTHFR

I don't know

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria due to MTHFR deficiency, 236250

Publications

• 3580562
• 29391032

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association

Created: 3 Dec 2018, 1:49 p.m.

Comment on publications: Added publications to support upgrading of the gene to Green

Created: 3 Dec 2018, 1:46 p.m.

Comment on mode of inheritance: Added MOI from external clinical review and publications

Created: 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 panel

Created: 3 Dec 2018, 1:30 p.m.

Green List (high evidence)

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