CNGB3

cyclic nucleotide gated channel beta 3
OMIM: 605080, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CNGB3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia 3, MIM# 262300

Green CNGB3 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 0.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Macular degeneration, juvenile, 248200 -3
    • Achromatopsia-3, 262300
    • Stargardt Disease, Recessive

    Green CNGB3 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
    • Macular degeneration, juvenile, 248200 (3)

    Green CNGB3 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Achromatopsia-3, 262300

    Green CNGB3 in Achromatopsia


    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
    • Expert list
    Phenotypes
    • Achromatopsia 3 MIM#262300

    Green CNGB3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Achromatopsia-3

    Green CNGB3 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Achromatopsia 3 MIM#262300

    Green CNGB3 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Macular degeneration, juvenile, 248200 (3)

    Red CNGB3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Achromatopsia 3, MIM# 262300

    Green CNGB3 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Macular degeneration, juvenile, 248200 (3)