CAKUT

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Local research laboratory has found a second family with two affected members and homozygous missense CHRM3 variants (unpublished)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

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.

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

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
Complete
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.
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Apr 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CHRM3 were set to Prune Belly-Like Syndrome; Low pressure congenital megabladder

22 Apr 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

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.

22 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Mar 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CHRM3 was changed to BIALLELIC, autosomal or pseudoautosomal

30 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Oct 2015, Gel status: 0

Added New Source

Helen Stuart (University of Manchester)

CHRM3 was added to CAKUTpanel. Sources: Expert Review