ADGRV1

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ADGRV1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Febrile seizures, familial, 4 MIM#604352
  • Usher syndrome, type 2C MIM#60547
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472

Amber ADGRV1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Myoclonic epilepsy
    • febrile seizures
    • epilepsy
    • Rolandic epilepsy

    Green ADGRV1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type 2C, MIM# 605472

    Red ADGRV1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory

    Green ADGRV1 in Usher Syndrome


    Level 2: Ophthalmological disorders
    Version 1.5

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type 2C, MIM# 605472

    Green ADGRV1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 2C, 605472 (3)

    Green ADGRV1 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Usher syndrome, type 2C, MIM# 605472

    Green ADGRV1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Usher syndrome, type 2C

    Green ADGRV1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 2C, 605472 (3)

    Green ADGRV1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Usher syndrome, type 2C, MIM# 605472
    Tags
    • deafness

    Green ADGRV1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type 2C, 605472 (3)