Genomics England
GMS Panels
Panels
Genes and Entities

PRICKLE1

prickle planar cell polarity protein 1
OMIM: 608500
PanelMode of inheritanceDetails
1 panel
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 1B OMIM:612437, epilepsy, progressive myoclonic, 1B MONDO:0012904