PRICKLE1

prickle planar cell polarity protein 1
OMIM: 608500
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 1B 612437
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 1B, 612437, Progressive Myoclonus Epilepsy with Ataxia