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Early onset or syndromic 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

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red to match my review.
Created: 11 Oct 2021, 9:56 a.m. | Last Modified: 11 Oct 2021, 9:56 a.m.
Panel Version: 2.437
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. As there is currently only 1 case with epilepsy this gene has been given a Red rating.
Created: 11 Oct 2021, 9:51 a.m. | Last Modified: 11 Oct 2021, 9:56 a.m.
Panel Version: 2.436

Zornitza Stark (Australian Genomics)

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: 12 Sep 2021, 5:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Neurodevelopmental delay; intellectual disability; autism



Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Red
  • Literature
  • Neurodevelopmental delay
  • intellectual disability, MONDO:0001071
  • autism
Clinvar variants
Variants in CHRM1
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 Oct 2021, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag watchlist was removed from gene: CHRM1.

11 Oct 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: CHRM1 was added gene: CHRM1 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Amber watchlist tags were added to gene: CHRM1. 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 delay; intellectual disability, MONDO:0001071; autism