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| Genetic Epilepsy v1.229 | ADGRV1 | Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Myoclonic epilepsy; febrile seizures; epilepsy; Rolandic epilepsy to Epilepsy, MONDO:0005027, ADGRV1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.228 | 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 v1.227 | ADGRV1 |
Zornitza Stark changed review comment from: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy. PMID 40217298: individual with de novo variant and ictal asystole. PMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort. PMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected. AMBER for bi-alleic association with epilepsy.; to: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy. PMID 40217298: individual with de novo variant and ictal asystole. PMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort. PMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected. AMBER for bi-allelic association with epilepsy. |
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| Genetic Epilepsy v1.227 | ADGRV1 |
Zornitza Stark edited their review of gene: ADGRV1: Added comment: PMID 40673693: individual with de novo variant and sleep-related hyper motor epilepsy. PMID 40217298: individual with de novo variant and ictal asystole. PMID 36399868: enrichment of rare variants, predicted as LP by in-silico tools in an epilepsy cohort. PMID 34744978: enrichment of rare variants in a Sudanese epilepsy cohort, one individual with homozygous variant was more severely affected. AMBER for bi-alleic association with epilepsy.; Changed publications: 29266188, 29261713, 32962041, 34160719, 40673693, 40217298, 36399868, 34744978 |
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| Genetic Epilepsy v1.220 | ADGRV1 |
Chirag Patel Mode of inheritance for gene ADGRV1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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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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