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| Cerebral Palsy v1.194 | SCN2A | Clare van Eyk edited their review of gene: SCN2A: Added comment: 3 additional individuals with mono-allelic P/LP variants (2 missense, 1 stopgain) reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: 33528536, 29761117, 34114234, 38693247 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.22 | SCN2A | Zornitza Stark Marked gene: SCN2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.22 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.22 | SCN2A | Zornitza Stark Classified gene: SCN2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.22 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.21 | SCN2A |
Clare van Eyk 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 Added comment: 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: Literature |
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