CAKUT
Gene: CHRM3Comment 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
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Local research laboratory has found a second family with two affected members and homozygous missense CHRM3 variants (unpublished)Created: 7 Apr 2016, 12:46 p.m.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
Gene: chrm3 has been classified as Green List (High Evidence).
Publications for gene: CHRM3 were set to 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.
Phenotypes for gene: CHRM3 were changed from Prune Belly-Like Syndrome; Low pressure congenital megabladder to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease
This gene has been classified as Red List (Low Evidence).
Phenotypes for CHRM3 were set to Prune Belly-Like Syndrome; Low pressure congenital megabladder
Publications for CHRM3 were set to 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.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for CHRM3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
CHRM3 was added to CAKUTpanel. Sources: Expert Review