Cerebral Palsy
Gene: SCN2AEnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
3 additional individuals with mono-allelic P/LP variants (2 missense, 1 stopgain) reported in large-scale exome sequencing study (PMID: 38693247).Created: 27 May 2024, 12:53 p.m. | Last Modified: 27 May 2024, 12:53 p.m.
Panel Version: 1.194
Four single cases with de novo pathogenic/likely pathogenic missense variants in individuals with a clinical diagnosis of cerebral palsy. Mutations in SCN2A cause a spectrum of early-onset epileptic encephalopathies, with some cases reported to have movement disorders clinically overlapping with cerebral palsy.
Sources: LiteratureCreated: 4 Feb 2022, 4:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721
- OMIM
- 182390
- Clinvar variants
- Variants in SCN2A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn2a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn2a 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: SCN2A was added gene: SCN2A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 33528536; 29761117; 34114234 Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721 Review for gene: SCN2A was set to GREEN