Recurrent episodic apnoea
Gene: SCN2A
The rating of this gene has been set to Green 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
Associated with relevant phenotype in OMIM Seizures, benign familial infantile, 3 (OMIM:607745). At least eight SCN2A variants have been reported in this phenotype and PMID: 28379373 reports four cases where apnea was observed.Created: 22 Dec 2022, 2:07 p.m. | Last Modified: 22 Dec 2022, 2:07 p.m.
Panel Version: 0.18
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
Gene: scn2a has been classified as Green List (High Evidence).
Publications for gene: SCN2A were set to
Mode of inheritance for gene: SCN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were changed from to Seizures, benign familial infantile, 3, OMIM:607745; seizures, benign familial infantile, 3 MONDO:0011904
gene: SCN2A was added gene: SCN2A was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: SCN2A was set to