CTNNA1

catenin alpha 1
OMIM: 116805, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CTNNA1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970
  • Familial exudative vitreoretinopathy MONDO#0019516, CTNNA1-related

Green CTNNA1 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, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970

    Green CTNNA1 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 1.5

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Familial exudative vitreoretinopathy

    Green CTNNA1 in Diffuse Gastric Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Diffuse gastric cancer, MONDO:0957519
    • CTNNA1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100256
    • no MIM#