PanelApp
  1. Genes and Genomic Entities
  2. ADIPOR1

ADIPOR1

adiponectin receptor 1
OMIM: 607945, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ADIPOR1 in Hypertrophic cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.25

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related

    Amber ADIPOR1 in Mendeliome


    Version 1.4543

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinitis pigmentosa, MONDO:0019200, ADIPOR1-related
    • Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related

    Amber ADIPOR1 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.242

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • syndromic retinitis pigmentosa
    • non-syndromic autosomal dominant retinitis pigmentosa

    Amber ADIPOR1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.248

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • RetNet
    • Royal Melbourne Hospital
    Phenotypes
    • syndromic retinitis pigmentosa
    • non-syndromic autosomal dominant retinitis pigmentosa