| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial Generalised Epilepsy v0.10 | CPA6 | Bryony Thompson Marked gene: CPA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.10 | CPA6 | Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.10 | CPA6 | Bryony Thompson Classified gene: CPA6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.10 | CPA6 |
Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021 |
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| Familial Generalised Epilepsy v0.10 | CPA6 | Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Generalised Epilepsy v0.0 | CPA6 |
Bryony Thompson gene: CPA6 was added gene: CPA6 was added to Familial Generalised Epilepsy. Sources: Expert Review Green,GREP Mode of inheritance for gene: CPA6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CPA6 were set to Epilepsy, familial temporal lobe, 5 614417 AR, AD; Febrile seizures, familial, 11 614418 |
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