| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2205 | SCN10A | Elena Savva Marked gene: SCN10A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2205 | SCN10A | Elena Savva Gene: scn10a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2205 | SCN10A |
Elena Savva gene: SCN10A was added gene: SCN10A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SCN10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN10A were set to PMID: 28078312 Phenotypes for gene: SCN10A were set to Episodic pain syndrome, familial, 2 MIM#615551; Neurodevelopmental disorder (MONDO#0700092), SCN10A-related Review for gene: SCN10A was set to RED Added comment: PMID: 28078312 - three families (2x biallelic missense, hom PTC). - family 1 had progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures - family 2 had neonatal hypotonia, bradycardia, and recurrent seizures - family 3 had febrile infection-related epilepsy syndrome (FIRES) - Additional 5 probands reported with biallelic missense and Lennox–Gastaut syndrome, epilepsy databases and autism databases - Het carriers of PTC were NOT affected, but LOF is NOT a known mechanism of AD disease Red for biallelic disease - none of the missense had functional studies to support pathogenicity. More evidence needed. Sources: Literature |
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