Genetic Epilepsy

Gene: ADGRV1

Green List (high evidence)

Established gene disease association. Rated as DEFINITIVE by ClinGen for association with Usher syndrome, but DISPUTED for isolated deafness.

Questionable epilepsy association

Created: 28 Mar 2022, 5:19 a.m. | Last Modified: 28 Mar 2022, 5:19 a.m.

Panel Version: 0.12150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472

I don't know

Two families reported with bi-allelic variants and Rolandic epilepsy.

Created: 25 Sep 2021, 2:36 a.m. | Last Modified: 25 Sep 2021, 2:36 a.m.

Panel Version: 0.1218

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

Created: 15 Oct 2020, 7:46 p.m. | Last Modified: 15 Oct 2020, 7:46 p.m.

Panel Version: 0.880

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myoclonic epilepsy; febrile seizures; epilepsy; Rolandic epilepsy

Publications

• 29266188
• 29261713
• 32962041
• 34160719