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  3. CHRM3
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Renal and urinary tract disorders

Gene: CHRM3

Red List (low evidence)
CHRM3 (cholinergic receptor muscarinic 3)
EnsemblGeneIds (GRCh38): ENSG00000133019
EnsemblGeneIds (GRCh37): ENSG00000133019
OMIM: 118494, Gene2Phenotype
CHRM3 is in 4 panels

3 reviews

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

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Local research laboratory has found a second family with two affected members and homozygous missense CHRM3 variants (unpublished)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

Created: 7 Apr 2016, 12:46 p.m.

Panel version: Imported from CAKUT panel version 0.64

Ellen McDonagh (Genomics England Curator)

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.
Created: 30 Mar 2016, 12:51 p.m.

Panel version: Imported from CAKUT panel version 0.63

Helen Stuart (University of Manchester)

Red List (low evidence)

May be phenocopy of PUV
Created: 18 Oct 2015, 9:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Panel version: Imported from CAKUT panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
OMIM
118494
Clinvar variants
Variants in CHRM3
Penetrance
None
Publications
  • 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.
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Stuart: May be phenocopy of PUV

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Prune Belly-Like Syndrome; Low pressure congenital megabladder for gene: CHRM3

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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