HMCN1

hemicentin 1
OMIM: 608548, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red HMCN1 in Mendeliome


Version 2.0

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 1.0

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