GUCA1B

guanylate cyclase activator 1B
OMIM: 602275, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber GUCA1B in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 48, MIM# 613827
Tags
  • founder

Amber GUCA1B in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 48, MIM#613827
    Tags
    • founder

    Amber GUCA1B in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 48, MIM#613827
    Tags
    • founder