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  3. CHRNE
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Recurrent episodic apnoea

Gene: CHRNE

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

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
Created: 1 Feb 2023, 2:43 p.m.
Last Modified: 1 Feb 2023, 2:43 p.m.
Panel version: 0.91

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Created: 3 Jan 2023, 11:50 a.m.
Last Modified: 3 Jan 2023, 11:59 a.m.
Panel version: 0.54

Eleanor Williams (Genomics England Curator)

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
Created: 21 Dec 2022, 2:49 p.m.
Last Modified: 21 Dec 2022, 2:49 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • congenital myasthenic syndrome 4B, MONDO:0014586
OMIM
100725
Clinvar variants
Variants in CHRNE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHRNE were changed from to Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; congenital myasthenic syndrome 4B, MONDO:0014586

3 Jan 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CHRNE was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Jan 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CHRNE were set to 24295813

3 Jan 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CHRNE were set to

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CHRNE was added gene: CHRNE was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: CHRNE was set to