Genomics England
GMS Panels
Panels
Genes and Entities

NPRL3

NPR3 like, GATOR1 complex subunit
OMIM: 600928
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NPRL3-related familial focal epilepsy with or without focal cortical dysplasia
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.54
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, familial focal, with variable foci 3, 617118
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 3, OMIM:617118