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Unexplained young onset end-stage renal disease - additional genes

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

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 12:54 p.m. | Last Modified: 31 Jan 2023, 12:54 p.m.
Panel Version: 2.6
Created: 31 Jan 2023, 12:54 p.m.
Last Modified: 31 Jan 2023, 12:54 p.m.
Copied from panel: Unexplained young onset end-stage renal disease v5.4

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 can now be promoted to Green status at the next GMS review.
Created: 19 Aug 2022, 2:23 p.m. | Last Modified: 19 Aug 2022, 2:23 p.m.
Panel Version: 1.40
Created: 19 Aug 2022, 2:23 p.m.
Last Modified: 19 Aug 2022, 2:23 p.m.
Copied from panel: Unexplained young onset end-stage renal disease v5.4

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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Local research laboratory has found a second family with two affected members and homozygous missense CHRM3 variants (unpublished)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

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Prune belly syndrome, OMIM:100100
  • Megacystis
  • Urinary Bladder Disease
OMIM
118494
Clinvar variants
Variants in CHRM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CHRM3 were changed from Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease

27 Sep 2024, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: CHRM3 were set to 31441039; 22077972; 10944224

27 Sep 2024, Gel status: 3

Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Megacystis; Urinary Bladder Disease; Prune belly syndrome, OMIM:100100 for gene: CHRM3 Publications for gene: CHRM3 were updated from 10944224; 22077972; 31441039 to 31441039; 22077972; 10944224

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CHRM3 was added gene: CHRM3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM3 were set to 10944224; 22077972; 31441039 Phenotypes for gene: CHRM3 were set to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease