Fetal anomalies
Gene: CHRNA3

CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000080644
EnsemblGeneIds (GRCh37): ENSG00000080644
OMIM: 118503, Gene2Phenotype
CHRNA3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five individuals from three unrelated families.

Onset is in utero or early childhood.

Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.
Created: 11 Dec 2021, 6:02 a.m. | Last Modified: 11 Dec 2021, 6:03 a.m.

Panel Version: 0.1220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800

Publications

31708116

Created: 11 Dec 2021, 6:02 a.m.
Last Modified: 11 Dec 2021, 6:03 a.m.
Panel version: 0.1220

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800

OMIM

118503

Clinvar variants

Variants in CHRNA3

Penetrance

None

Publications

31708116

Panels with this gene