CAKUT

Gene: CHRM3

Comment on list classification: Two unrelated families with urinary bladder disease (PMIDs: 22077972; 31441039) have now been published (including the one previously reviewed by Adrian Woolf in 2016), and given that the null mutant mouse model recapitulates the human phenotype (PMID: 10944224), this gene has now been promoted to Green status.

Created: 19 Aug 2022, 2:21 p.m. | Last Modified: 19 Aug 2022, 2:21 p.m.

Panel Version: 1.172

Green List (high evidence)

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Local research laboratory has found a second family with two affected members and homozygous missense CHRM3 variants (unpublished)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

• Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller 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, Nürnberg 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.

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.

Red List (low evidence)

May be phenocopy of PUV

Created: 18 Oct 2015, 9:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal