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  3. CHRM3
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Gastrointestinal neuromuscular disease

Gene: CHRM3

Green List (high evidence)
CHRM3 (cholinergic receptor muscarinic 3)
EnsemblGeneIds (GRCh38): ENSG00000133019
EnsemblGeneIds (GRCh37): ENSG00000133019
OMIM: 118494, Gene2Phenotype
CHRM3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and mouse model.
Created: 18 Jul 2021, 6:45 a.m. | Last Modified: 18 Jul 2021, 6:45 a.m.
Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Prune belly syndrome, MIM# 100100

Publications

Created: 18 Jul 2021, 6:45 a.m.
Last Modified: 18 Jul 2021, 6:45 a.m.
Panel version: 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Prune belly syndrome, MIM# 100100
  • Posterior urethral valves & prune belly syndrome
OMIM
118494
Clinvar variants
Variants in CHRM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRM3 were changed from Posterior urethral valves & prune belly syndrome to Prune belly syndrome, MIM# 100100; Posterior urethral valves & prune belly syndrome

18 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHRM3 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CHRM3 was added gene: CHRM3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRM3 were set to Posterior urethral valves & prune belly syndrome