1. Genes and Genomic Entities
  2. ADGRV1

ADGRV1

adhesion G protein-coupled receptor V1
OMIM: 602851, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red ADGRV1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red ADGRV1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Red ADGRV1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.56

review Unknown
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
Red ADGRV1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Green ADGRV1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • hearing loss
    • Febrile seizures, familial, 4, 604352
    • Syndromic and Non Syndromic Hearing Loss
    • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
    • Usher syndrome, type 2C, 605472
    Red ADGRV1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Not set
    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
    Red ADGRV1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Febrile seizures, familial, 4, 604352
    • Usher syndrome, type
    • 2C, 605472
    • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
    Green ADGRV1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Usher syndrome, type 2C, 605472
    • Eye Disorders
    • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
    Red ADGRV1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Usher syndrome, type 2C, 605472
    • Eye Disorders
    Red ADGRV1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies