Early onset or syndromic epilepsy

Gene: ADGRV1

I don't know

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

I don't know

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

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

Publications

• 12402266
• 29266188

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.