Recurrent episodic apnoea
Gene: CHRNE
The rating of this gene has been set to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
CHRNE is not associated with apnoea in OMIM or Gen2Phen. PMID: 24295813 reports a male 7 months old with Fast-channel congenital myasthenic syndrome, charactarized by recurrent apnoeic crises emerging in the neonatal period, requiring ventilator support. This case was compound heterozygous for: c.43T>C, p.Y15H & c.113C>A, p.T38K. In vitro functional analysis appeared to show abbreviated ion channel bursts (PMID: 24295813) It would appear that this case is mentioned in table 2 in PMID: 29189923.Created: 3 Jan 2023, 11:50 a.m. | Last Modified: 3 Jan 2023, 11:59 a.m.
Panel Version: 0.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Phenotypes for gene: CHRNE were changed from to Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; congenital myasthenic syndrome 4B, MONDO:0014586
Mode of inheritance for gene: CHRNE was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNE were set to 24295813
Publications for gene: CHRNE were set to
gene: CHRNE was added gene: CHRNE was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: CHRNE was set to