ADGRV1

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

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green ADGRV1 in ClinGen Gene Validity Curations


Version 0.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Usher Syndrome, Type 2C
  • Orphanet:231178
  • OMIM:605472
Red ADGRV1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

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 1.19

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

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.41

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.74
    Latest signed off version: v3.0 (22 Mar 2023)

    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 1.169

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green ADGRV1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
    • Usher syndrome, type 2C, 605472