Fetal anomalies
Gene: CHRNE

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)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 10:57 a.m. | Last Modified: 1 Feb 2021, 10:57 a.m.

Panel Version: 1.312

Created: 1 Feb 2021, 10:57 a.m.
Last Modified: 1 Feb 2021, 10:57 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Arthrogryposis; Neuromuscular disorders

Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases.
Sources: Expert list
Created: 29 Jan 2021, 11:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931

Created: 29 Jan 2021, 11:48 a.m.

Panel version: 1.229

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809
Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931

OMIM

100725

Clinvar variants

Variants in CHRNE

Penetrance

None

Panels with this gene