CHRNB2:Ensemblv90

cholinergic receptor nicotinic beta 2 subunit
OMIM: 118507, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CHRNB2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3, MIM# 605375

Green CHRNB2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3, MIM# 605375

    Green CHRNB2 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.15

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3 605375

    Green CHRNB2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3, MIM# 605375

    Green CHRNB2 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • GREP
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3 605375