Recurrent episodic apnoea

Gene: SCN9A

I don't know

The rating of this gene has been set to Amber 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

I don't know

Comment on list classification: Although there are enough SCN9A variants associated with Paroxysmal extreme pain disorder, OMIM:167400 to allow for a green rating, the evidence for the occurence of apnoea in cases is insufficient to date, therefore the rating on this panel is amber.

Created: 3 Jan 2023, 5:54 p.m. | Last Modified: 3 Jan 2023, 5:54 p.m.

Panel Version: 0.85

SCN9A is associated with paroxysmal extreme pain disorder (OMIM:167400), but not with a phenotype in Gen2Phen. At least six variants have been associated with paroxysmal extreme pain disorder in OMIM. PMID: 17679678 reports SCN9A variants in eight families with paroxysmal extreme pain disorder (OMIM: 167400); literature review confirmed the occurence of apnoea in one of these families (PMID: 16338680) and in an additional family, with a mother, two daughters (PMID: 32404070).

Created: 3 Jan 2023, 5:32 p.m. | Last Modified: 3 Jan 2023, 5:55 p.m.

Panel Version: 0.85

Comment on phenotypes: The following conditions are also associated with SCN9A variants: Erythermalgia, primary, OMIM:133020 (AD); Insensitivity to pain, congenital, OMIM:243000 (AR), Neuropathy, hereditary sensory and autonomic, type IID, OMIM:243000 (AR); Small fiber neuropathy, OMIM:133020 (AD).

Created: 3 Jan 2023, 3:38 p.m. | Last Modified: 3 Jan 2023, 3:38 p.m.

Panel Version: 0.76

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