CNGB3

cyclic nucleotide gated channel beta 3
OMIM: 605080, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red CNGB3 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
Green CNGB3 in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Achromatopsia
Amber CNGB3 in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Achromatopsia 3, OMIM:262300
Tags
  • Q4_22_promote_green
Red CNGB3 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green CNGB3 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia 3, OMIM:262300
  • Macular degeneration, juvenile
Tags
  • gene-therapy-trial
Red CNGB3 in Structural eye disease


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Achromatopsia-3, 262300
  • Macular degeneration, juvenile, 248200
  • Eye Disorders
Green CNGB3 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 3, 262300
  • Macular degeneration, juvenile, 248200