Renal and urinary tract disorders
Gene: CHRM3
Bladder phenotype also present in null mutant mouse.
Local research laboratory has found a second family with two affected members and homozygous missense CHRM3 variants (unpublished)Created: 7 Apr 2016, 12:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Low pressure congenital megabladder
Publications
Comment on list classification: Gene added during expert review and rated red, however a second reviewer believes this gene should be green due to local results.Created: 22 Apr 2016, 12:32 p.m.
Comment on mode of inheritance: Mode of inheritance provided by reviewer.Created: 30 Mar 2016, 12:51 p.m.
May be phenocopy of PUVCreated: 18 Oct 2015, 9:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Helen Stuart: May be phenocopy of PUV
Added phenotypes Prune Belly-Like Syndrome; Low pressure congenital megabladder for gene: CHRM3
gene: CHRM3 was added gene: CHRM3 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM3 were set to Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011. Phenotypes for gene: CHRM3 were set to Prune Belly-Like Syndrome; Low pressure congenital megabladder