Recurrent episodic apnoea
Gene: PRRT2
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 phenotypes in OMIM and as definitive Gen2Phen gene for Benign familial infantile epilepsy & infantile convulsions with choreoathetosis syndrome. Numerous variants have been reported and PMID 10908896 reports apnea in 9/11 families with infantile convulsions.Created: 22 Dec 2022, 6:07 p.m. | Last Modified: 22 Dec 2022, 6:07 p.m.
Panel Version: 0.30
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: prrt2 has been classified as Green List (High Evidence).
Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066; infantile convulsions and choreoathetosis, MONDO:0011178 to Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066; infantile convulsions and choreoathetosis, MONDO:0011178; Episodic kinesigenic dyskinesia 1, OMIM:128200; episodic kinesigenic dyskinesia 1, MONDO:0100352; Seizures, benign familial infantile, 2, OMIM: 605751; seizures, benign familial infantile, 2, MONDO:0011593
Publications for gene: PRRT2 were set to
Mode of inheritance for gene: PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066; infantile convulsions and choreoathetosis, MONDO:0011178
gene: PRRT2 was added gene: PRRT2 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: PRRT2 was set to