PanelApp (staging)
  1. Genes and Genomic Entities
  2. CERS1

CERS1

ceramide synthase 1
OMIM: 606919, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CERS1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.19

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