Recurrent episodic apnoea

Gene: SCN1A

Green List (high evidence)

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

Green List (high evidence)

Comment on classification of gene: This gene should be rated GREEN as this gene has been associated with apnoea in 13 infants from PMID:35696452.

35 patients were studied in PMID:35696452 and the findings were related to Dravet syndrome (MIM #607208) and familial hemiplegic migraine type 3 (MIM #609634) variants. Of these, 13 most severely affected infants were presented with congenital arthrogryposis, neonatal onset epilepsy in the first 3 days of life, tonic seizures and apnoeas, accompanied by a significant movement disorder and profound intellectual disability. Functional studies reveal that these variants result in gain of function.

This gene is associated with relevant phenotypes in both OMIM and G2P.

Created: 2 Jan 2023, 10:34 p.m. | Last Modified: 2 Jan 2023, 10:38 p.m.

Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Developmental and epileptic encephalopathy 6B, non-Dravet, OMIM:619317; Dravet syndrome, OMIM:607208; Febrile seizures, familial, 3A, OMIM:604403; Generalized epilepsy with febrile seizures plus, type 2, OMIM:604403; Migraine, familial hemiplegic, 3, OMIM:609634

Publications

• 35696452

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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