1. Panels
  2. Newborns additional phenotypes panel 1
  3. CHRNE
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns additional phenotypes panel 1

Gene: CHRNE

Amber List (moderate evidence)
CHRNE (cholinergic receptor nicotinic epsilon subunit)
EnsemblGeneIds (GRCh38): ENSG00000108556
EnsemblGeneIds (GRCh37): ENSG00000108556
OMIM: 100725, Gene2Phenotype
CHRNE is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

Dominant CHRNE will not be included initially because the pipeline cannot detect variants based on MOI for specific genes. From modelling analysis with 35k samples, a high number of recessive variants were prioritised in the heterozygous state. Dominant CHRNE will not be included until additional pipeline rules are added.
Created: 13 Dec 2023, 3:35 p.m. | Last Modified: 13 Dec 2023, 3:35 p.m.
Panel Version: 0.57
The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and gain-of-function (GOF) for autosomal dominant MOI.
Created: 7 Jul 2023, 9:17 a.m. | Last Modified: 7 Jul 2023, 9:20 a.m.
Panel Version: 0.31
PMID: 36308527 - 13 recessive cases PMID: 35466948 - dominant case GOF PMID: 27375219 - 8 dominant cases in supplement Genereviews covers all CMS https://www.ncbi.nlm.nih.gov/books/NBK1168/
Created: 7 Jul 2023, 9:17 a.m. | Last Modified: 7 Jul 2023, 9:17 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:17 a.m.
Last Modified: 7 Jul 2023, 9:20 a.m.
Panel version: 0.57

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Myasthenic syndrome, congenital, 4, autosomal dominant
OMIM
100725
Clinvar variants
Variants in CHRNE
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4 to Myasthenic syndrome, congenital, 4, autosomal dominant

13 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

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

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 4 for gene: CHRNE

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: CHRNE was added gene: CHRNE was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: CHRNE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4 Mode of pathogenicity for gene: CHRNE was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments