Genomics England
GMS Panels
Panels
Genes and Entities

SERPINI1

serpin family I member 1
OMIM: 602445
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 4.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Encephalopathy, familial, with neuroserpin inclusion bodies 604218