1. Genes and Genomic Entities
  2. NPRL2

NPRL2

NPR2 like, GATOR1 complex subunit
OMIM: 607072, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green NPRL2 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2, OMIM:617116
    Green NPRL2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2, OMIM:617116