CHRNA3

cholinergic receptor nicotinic alpha 3 subunit
OMIM: 118503
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAKUT, dysautonomia, Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800