1. Genes and Genomic Entities
  2. CHRNA3

CHRNA3

cholinergic receptor nicotinic alpha 3 subunit
OMIM: 118503, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CHRNA3 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CAKUT
  • dysautonomia
Green CHRNA3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Green CHRNA3 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHRNA3-related congenital anomalies of the kidney and urinary tract
    Green CHRNA3 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • CAKUT
    • dysautonomia
    • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
    No list CHRNA3 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Familial Autonomic Ganglionopathy