1. Genes and Genomic Entities
  2. CHRNB2

CHRNB2

cholinergic receptor nicotinic beta 2 subunit
OMIM: 118507, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber CHRNB2 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT
  • NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT
Green CHRNB2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375
    • NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426
    Green CHRNB2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    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, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • UKGTN
    • Expert
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3 605375
    Red CHRNB2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3 605375
    Green CHRNB2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, 3, 605375