Recurrent episodic apnoea
Gene: KCNT1
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 14 (OMIM:614959) and as definitive Gen2Phen gene for the same condition. At least six variants have been reported for OMIM:614959 and there are at least three reports of apnea (PMID: 24029078;7555952;15816952).Created: 22 Dec 2022, 6:34 p.m. | Last Modified: 22 Dec 2022, 6:34 p.m.
Panel Version: 0.36
Comment on phenotypes: Developmental and epileptic encephalopathy 14, OMIM:614959 is also referred to as malignant migrating partial seizures of infancy' (MMPSI) in the literature and by Gen2Phen.Created: 22 Dec 2022, 6:22 p.m. | Last Modified: 22 Dec 2022, 6:22 p.m.
Panel Version: 0.34
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: kcnt1 has been classified as Green List (High Evidence).
Publications for gene: KCNT1 were set to
Phenotypes for gene: KCNT1 were changed from Developmental and epileptic encephalopathy 14, OMIM:614959; developmental and epileptic encephalopathy, 14, MONDO:0013989 to Developmental and epileptic encephalopathy 14, OMIM:614959; developmental and epileptic encephalopathy, 14, MONDO:0013989
Mode of inheritance for gene: KCNT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNT1 were changed from to Developmental and epileptic encephalopathy 14, OMIM:614959; developmental and epileptic encephalopathy, 14, MONDO:0013989
gene: KCNT1 was added gene: KCNT1 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: KCNT1 was set to