SAMD7:Ensemblv90

sterile alpha motif domain containing 7
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SAMD7 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macular dystrophy with or without cone dysfunction, MIM# 620762

Green SAMD7 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 0.56

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Macular dystrophy with or without cone dysfunction, MIM# 620762

    Green SAMD7 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Macular dystrophy with or without cone dysfunction, MIM# 620762