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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. CHRM5
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: CHRM5

Red List (low evidence)
CHRM5 (cholinergic receptor muscarinic 5)
EnsemblGeneIds (GRCh38): ENSG00000184984
EnsemblGeneIds (GRCh37): ENSG00000184984
OMIM: 118496, Gene2Phenotype
CHRM5 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 37213061
- homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4).
- Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity.
- ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation.
- Transfected CHO line showed no effect on receptor expression
- Described a mouse K/O as having a bladder overactivity

No hom PTCs in gnomAD
Sources: Literature
Created: 1 Jun 2023, 1:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related

Publications

Created: 1 Jun 2023, 1:26 a.m.

Panel version: 0.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related
OMIM
118496
Clinvar variants
Variants in CHRM5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrm5 has been classified as Red List (Low Evidence).

1 Jun 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CHRM5 was added gene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM5 were set to 37213061 Phenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Review for gene: CHRM5 was set to RED