Genomics England
GMS Panels
Panels
Genes and Entities

CERS1

ceramide synthase 1
OMIM: 606919
PanelMode of inheritanceDetails
1 panel
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Epilepsy, progressive myoclonic, 8 OMIM:616230, progressive myoclonic epilepsy type 8 MONDO:0014545