CTNNA1:Ensemblv90

catenin alpha 1
OMIM: 116805, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CTNNA1 in Mendeliome


Version 1.3802

1 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 0.56

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970

    Red CTNNA1 in NCGC


    Version 0.3

    0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • NA

    Green CTNNA1 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 1.9

    Component of the following Super Panels:

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

    Green CTNNA1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970

    Green CTNNA1 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 2.0

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