Recurrent episodic apnoea
Gene: SCN8A
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 Developmental and epileptic encephalopathy 13 (OMIM: 614558), Seizures, benign familial infantile, 5 (OMIM:617080) and as definitive Gen2Phen gene for epileptic encephalopathy, early infantile 13. At least eight variants have been reported in OMIM: 614558 and two in OMIM:617080. Apnea has been reported in both of these phenotypes (PMIDs: 30078772 & 27210545).Created: 22 Dec 2022, 5:11 p.m. | Last Modified: 22 Dec 2022, 5:11 p.m.
Panel Version: 0.24
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
Mode of inheritance for gene: SCN8A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: scn8a has been classified as Green List (High Evidence).
Publications for gene: SCN8A were set to 27210545; 24888894; 32846312; 31675620; 32889434; 36160949
Publications for gene: SCN8A were set to 27210545; 24888894
Phenotypes for gene: SCN8A were changed from to Developmental and epileptic encephalopathy 13, OMIM: 614558; developmental and epileptic encephalopathy, 13, MONDO:0013801; Seizures, benign familial infantile, 5, OMIM:617080; seizures, benign familial infantile, 5, MONDO:0014903
Publications for gene: SCN8A were set to
gene: SCN8A was added gene: SCN8A was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: SCN8A was set to