Genomics England
GMS Panels
Panels
Genes and Entities

PACSIN3

protein kinase C and casein kinase substrate in neurons 3
OMIM: 606513
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PACSIN3-related childhood-onset myopathy with hyperCKaemia