CERS1

ceramide synthase 1
OMIM: 606919, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CERS1 in Mendeliome


Version 1.2656

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic, 8, MONDO:0020074

Green CERS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.157

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic, 8 MIM#616230

    Green CERS1 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • ?Epilepsy, progressive myoclonic, 8, 616230