1. Genes and Genomic Entities
  2. CHRNA2

CHRNA2

cholinergic receptor nicotinic alpha 2 subunit
OMIM: 118502, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CHRNA2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607
    Green CHRNA2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Epilepsy, nocturnal frontal lobe, type 4, OMIM:610353
    • autosomal dominant nocturnal frontal lobe epilepsy 4, MONDO:0012474
    Red CHRNA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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, type 4 610353