Genomics England
GMS Panels
Panels
Genes and Entities
JPH2
junctophilin 2
OMIM:
605267
See this entity in PanelApp
Panel
Mode of inheritance
Details
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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 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes