Recurrent episodic apnoea
Gene: SCN1A
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
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
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
Phenotypes for gene: SCN1A were changed from to 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 for gene: SCN1A were set to
Mode of pathogenicity for gene: SCN1A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: scn1a has been classified as Green List (High Evidence).
gene: SCN1A was added gene: SCN1A was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: SCN1A was set to