HMCN1:Ensemblv90

hemicentin 1
OMIM: 608548, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red HMCN1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Macular degeneration, age-related, 1} MIM#603075
  • age related macular degeneration 1 MONDO:0011285

Red HMCN1 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
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Macular Degeneration

    Red HMCN1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Macular Degeneration