Cerebral Palsy
Gene: SCN1AEnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 14 panels
1 review
Clare van Eyk (University of Adelaide)
1 additional individual with LP missense variant reported in large-scale exome sequencing study (PMID: 38693247).Created: 27 May 2024, 12:51 p.m. | Last Modified: 27 May 2024, 12:51 p.m.
Panel Version: 1.194
Six cases described with missense (3 cases) or loss of function (3 cases) variants in SCN1A in individuals diagnosed with cerebral palsy. Mutations in SCN1A cause a spectrum of early-onset epileptic encephalopathies, with some cases reported to have movement disorders clinically overlapping with cerebral palsy.
Sources: LiteratureCreated: 23 Sep 2021, 6:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317); Dravet syndrome (OMIM 607208)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317)
- Dravet syndrome (OMIM 607208)
- OMIM
- 182389
- Clinvar variants
- Variants in SCN1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early-onset Parkinson disease
- Paroxysmal Dyskinesia
- Fetal anomalies
- Additional findings_Paediatric
- Brain Channelopathies
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: SCN1A was added gene: SCN1A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to PMID: 33528536; PMID: 34364746; PMID: 34114234 Phenotypes for gene: SCN1A were set to Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317); Dravet syndrome (OMIM 607208) Review for gene: SCN1A was set to GREEN