| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Marked gene: SCN2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Classified gene: SCN2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.55 | SCN2A | Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternating Hemiplegia and Hemiplegic Migraine v0.54 | SCN2A |
Ee Ming Wong gene: SCN2A was added gene: SCN2A was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 38097767 Phenotypes for gene: SCN2A were set to Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related Review for gene: SCN2A was set to GREEN gene: SCN2A was marked as current diagnostic Added comment: - 1x in-frame del and 2x missense variants identified in three individuals with typical alternating hemiplegia of childhood (2x confirmed de novo, 1x unknown inheritance) - Loss of function demonstrated by functional studies of all three variants (mutant transcripts transfected into HEK293T cells showed either complete loss of function or altered electrophysiological properties) Sources: Literature |
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