1. Genes and Genomic Entities
  2. CERS1

CERS1

ceramide synthase 1
OMIM: 606919, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CERS1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.147
Latest signed off version: v8.0 (30 Apr 2025)

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
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Epilepsy, progressive myoclonic, 8 OMIM:616230
    • progressive myoclonic epilepsy type 8 MONDO:0014545