Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Familial Generalised Epilepsy v0.5 | CACNB4 | Bryony Thompson Classified gene: CACNB4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial Generalised Epilepsy v0.5 | CACNB4 | Bryony Thompson Added comment: Comment on list classification: Disputed epilepsy gene, curated by ClinGen Epilepsy Gene Curation Expert Panel - Classification - 06/22/2018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial Generalised Epilepsy v0.5 | CACNB4 | Bryony Thompson Gene: cacnb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial Generalised Epilepsy v0.0 | CACNB4 |
Bryony Thompson gene: CACNB4 was added gene: CACNB4 was added to Familial Generalised Epilepsy. Sources: Expert Review Green,GREP Mode of inheritance for gene: CACNB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682 |