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  3. CHRM3
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Fetal anomalies

Gene: CHRM3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype.
Created: 19 Aug 2022, 1:54 p.m. | Last Modified: 19 Aug 2022, 1:54 p.m.
Panel Version: 1.925
Created: 19 Aug 2022, 1:54 p.m.
Last Modified: 19 Aug 2022, 1:54 p.m.
Panel version: 1.925

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene.

Details of review:
Discussed as a potential cause of megacystis. Currently Red on Panelapp CAKUT panel (2016) because at that time there was only 1 reported family and a mouse model. The unpublished data mentioned in that panelapp review (from Adrian Woolf, Manchester) is now published so now 2 families PMID: 22077972; 31441039 plus a mouse model PMID: 10944224. However, prenatal findings (distended bladder and unilateral hydronephrosis) only documented for one individual. More evidence of prenatal phenotype would be helpful.
Sources: Expert Review, Literature
Created: 11 Aug 2022, 2:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Prune belly syndrome; Megacystis

Publications

Created: 11 Aug 2022, 2:29 p.m.

Panel version: 1.900

Details

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

History Filter Activity

19 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chrm3 has been classified as Amber List (Moderate Evidence).

19 Aug 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2022, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

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

11 Aug 2022, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: CHRM3 was added gene: CHRM3 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224 Phenotypes for gene: CHRM3 were set to Prune belly syndrome; Megacystis Review for gene: CHRM3 was set to AMBER