Genomics England
GMS Panels
Panels
Genes and Entities

CHRNA3

cholinergic receptor nicotinic alpha 3 subunit
OMIM: 118503
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHRNA3-related congenital anomalies of the kidney and urinary tract
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CAKUT, dysautonomia, Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800