Genetic epilepsy syndromesGene: ADGRV1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
previously called MASS1.AD ? Febrile seizures 4 (FEB4) and AR Usher syndrome. FEB4 - Nakayama et al, 2002 - nonsense mutation in thew MASS1 gene (alt name) in 1 family with febrile and afebrile seizures. Myers et al, 2018 - 6 patients all with a fh of epilepsy found to have missense ADGRV1 variants. one was de novo, 1 inherited from an aff mother and i from a father (hes not mentioned as being affected) - classed as likely pathogenic. No functional work.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Febrile seizures, familial, 4, 604352 ; Usher syndrome, type 2C, 605472 ; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
Comment when marking as ready: Insufficient data
Created: 8 May 2016, 6:57 p.m.
"GPR98" was originally sourced, however the likely HGNC-approved symbol for this gene is ADGRV1.
Created: 2 Jul 2015, 12:36 p.m.
Source Wessex and West Midlands GLH was added to ADGRV1.
Source NHS GMS was added to ADGRV1.
Ellen McDonagh: "GPR98" was originally sourced
Phenotypes for gene: ADGRV1 were set to Febrile seizures, familial, 4, 604352; Usher syndrome, type 2C, 605472; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ADGRV1. Panel: Genetic Epilepsy Syndromes
ADGRV1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
ADGRV1 was created by Sarah Leigh