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Newborns main panel

Gene: CHRNE

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 2:18 p.m. | Last Modified: 25 Sep 2024, 2:18 p.m.
Panel Version: 0.469
Special Consideration: Awareness.

Additional Information: AD MOI was excluded due to large numbers of heterozygous variants being prioritised requiring manual review.
Created: 25 Sep 2024, 2:18 p.m. | Last Modified: 25 Sep 2024, 2:18 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 2:18 p.m.
Last Modified: 25 Sep 2024, 2:18 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and gain-of-function (GOF) for autosomal dominant MOI.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:20 a.m.
Panel Version: 0.146
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: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:20 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 4, autosomal recessive
Tags
special_consideration
OMIM
100725
Clinvar variants
Variants in CHRNE
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CHRNE.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CHRNE was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CHRNE. Mode of inheritance for gene CHRNE was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myasthenic syndrome, congenital, 4 for gene: CHRNE Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: CHRNE.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CHRNE. Added phenotypes Myasthenic syndrome, congenital, 4 for gene: CHRNE Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: CHRNE.

9 Mar 2023, Gel status: 0

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CHRNE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CHRNE was added gene: CHRNE was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal