1. Genes and Genomic Entities
  2. MTHFS

MTHFS

methenyltetrahydrofolate synthetase
OMIM: 604197, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green MTHFS in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.73
Latest signed off version: v9.56 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
    Green MTHFS in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367