NPRL3

NPR3 like, GATOR1 complex subunit
OMIM: 600928
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, familial focal, with variable foci 3, 617118
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 3, OMIM:617118
R-numbers: R429
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, familial focal, with variable foci 3, OMIM:617118, Focal cortical dysplasia