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Genetic epilepsy syndromes

Gene: ADGRV1

Red List (low evidence)

ADGRV1 (adhesion G protein-coupled receptor V1)
EnsemblGeneIds (GRCh38): ENSG00000164199
EnsemblGeneIds (GRCh37): ENSG00000164199
OMIM: 602851, Gene2Phenotype
ADGRV1 is in 11 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Richard Scott (Genomics England Curator)

Comment when marking as ready: Insufficient data
Created: 8 May 2016, 6:57 p.m.

Ellen McDonagh (Genomics England Curator)

"GPR98" was originally sourced, however the likely HGNC-approved symbol for this gene is ADGRV1.
Created: 2 Jul 2015, 12:36 p.m.

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Febrile seizures, familial, 4, 604352
  • Usher syndrome, type 2C, 605472
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
OMIM
602851
Clinvar variants
Variants in ADGRV1
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ADGRV1.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ADGRV1.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: "GPR98" was originally sourced

1 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

26 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ADGRV1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ADGRV1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ADGRV1 was created by Sarah Leigh