Genomics England
GMS Panels
Panels
Genes and Entities

JPH2

junctophilin 2
OMIM: 605267
PanelMode of inheritanceDetails
1 panel
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes