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  3. CHRM3
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Unexplained kidney failure in young people

Gene: CHRM3

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

1 review

Arina Puzriakova (Genomics England Curator)

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, 2:22 p.m. | Last Modified: 19 Aug 2022, 2:22 p.m.
Panel Version: 1.116
Created: 19 Aug 2022, 2:22 p.m.
Last Modified: 19 Aug 2022, 2:22 p.m.
Panel version: 1.116

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Prune belly syndrome, OMIM:100100
  • Megacystis
  • Urinary Bladder Disease
OMIM
118494
Clinvar variants
Variants in CHRM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chrm3 has been classified as Green List (High Evidence).

19 Aug 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

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.

17 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CHRM3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Red

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CHRM3 was created by sleigh