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  3. CHRM1
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Genetic Epilepsy

Gene: CHRM1

Red List (low evidence)
CHRM1 (cholinergic receptor muscarinic 1)
EnsemblGeneIds (GRCh38): ENSG00000168539
EnsemblGeneIds (GRCh37): ENSG00000168539
OMIM: 118510, Gene2Phenotype
CHRM1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 34212451 - 2 unrelated cases with de novo missense variants (p.Pro380Leu and p.Phe425Ser), one case with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and the second case with mild dysmorphism, global developmental delay, and moderate intellectual disability. In vitro biochemical analyses of p.Pro380Leu demonstrated a reduction in protein levels, impaired cellular trafficking, and defective activation of intracellular signaling pathways.
PMID: 31981491 - an autism spectrum disorder (no other information on phenotype, except ascertained to have severe neurodevelopmental delay) case with a de novo missense variant p.(Arg210Leu)
PMID: 12483218 - null mouse model assessing memory demonstrated selective cognitive dysfunction.
Sources: Expert Review
Created: 6 Oct 2021, 2:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder; intellectual disability; autism; epilepsy

Publications

Created: 6 Oct 2021, 2:30 a.m.

Panel version: 0.1264

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 34212451 - 2 unrelated cases with de novo missense variants (p.Pro380Leu and p.Phe425Ser), one case with early-onset refractory epilepsy, severe disability, and progressive cerebral and cerebellar atrophy, and the second case with mild dysmorphism, global developmental delay, and moderate intellectual disability. In vitro biochemical analyses of p.Pro380Leu demonstrated a reduction in protein levels, impaired cellular trafficking, and defective activation of intracellular signaling pathways.
PMID: 31981491 - an autism spectrum disorder (no other information on phenotype, except ascertained to have severe neurodevelopmental delay) case with a de novo missense variant p.(Arg210Leu)
PMID: 12483218 - null mouse model assessing memory demonstrated selective cognitive dysfunction.
Sources: Literature
Created: 3 Sep 2021, 1:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental delay; intellectual disability; autism

Publications

Created: 3 Sep 2021, 1:37 a.m.

Panel version: Imported from Mendeliome panel version 0.9021

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder
  • intellectual disability
  • autism
  • epilepsy
OMIM
118510
Clinvar variants
Variants in CHRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrm1 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRM1 was added gene: CHRM1 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHRM1 were set to 34212451; 31981491; 12483218 Phenotypes for gene: CHRM1 were set to Neurodevelopmental disorder; intellectual disability; autism; epilepsy Review for gene: CHRM1 was set to RED