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| Genetic Epilepsy v0.1222 | ADGRV1 | Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Myoclonic epilepsy; febrile seizures; epilepsy to Myoclonic epilepsy; febrile seizures; epilepsy; Rolandic epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1221 | ADGRV1 | Zornitza Stark Publications for gene: ADGRV1 were set to 29266188; 29261713; 32962041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1220 | ADGRV1 | Zornitza Stark Mode of inheritance for gene: ADGRV1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1219 | ADGRV1 | Zornitza Stark Classified gene: ADGRV1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1219 | ADGRV1 | Zornitza Stark Gene: adgrv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1218 | ADGRV1 | Zornitza Stark edited their review of gene: ADGRV1: Added comment: Two families reported with bi-allelic variants and Rolandic epilepsy.; Changed rating: AMBER; Changed publications: 29266188, 29261713, 32962041, 34160719; Changed phenotypes: Myoclonic epilepsy, febrile seizures, epilepsy, Rolandic epilepsy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.880 | ADGRV1 | Zornitza Stark Marked gene: ADGRV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.880 | ADGRV1 | Zornitza Stark Gene: adgrv1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.880 | ADGRV1 |
Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with Usher syndrome. Some evidence that variants in this gene are implicated in epilepsy, based on animal model, presence in the recurrent 5q14.3 deletion, and over-representation of rare variants in myoclonic epilepsy cohorts (29266188) and identification in individual cases (29261713; 32962041). However, some of the variants do not meet pathogenicity criteria (present in pop datasets, no segregation information available) and contribution may be under a polygenic model. Sources: Expert Review; to: Bi-allelic variants in this gene are associated with Usher syndrome. Some evidence that mono-allelic variants in this gene are implicated in epilepsy, based on animal model, presence in the recurrent 5q14.3 deletion, and over-representation of rare variants in myoclonic epilepsy cohorts (29266188) and identification in individual cases (29261713; 32962041). However, some of the variants do not meet pathogenicity criteria (present in pop datasets, no segregation information available) and contribution may be under a polygenic model. Sources: Expert Review |
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| Genetic Epilepsy v0.880 | ADGRV1 |
Zornitza Stark gene: ADGRV1 was added gene: ADGRV1 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: ADGRV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRV1 were set to 29266188; 29261713; 32962041 Phenotypes for gene: ADGRV1 were set to Myoclonic epilepsy; febrile seizures; epilepsy Review for gene: ADGRV1 was set to RED Added comment: Bi-allelic variants in this gene are associated with Usher syndrome. Some evidence that variants in this gene are implicated in epilepsy, based on animal model, presence in the recurrent 5q14.3 deletion, and over-representation of rare variants in myoclonic epilepsy cohorts (29266188) and identification in individual cases (29261713; 32962041). However, some of the variants do not meet pathogenicity criteria (present in pop datasets, no segregation information available) and contribution may be under a polygenic model. Sources: Expert Review |
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