MAPKAPK3

mitogen-activated protein kinase-activated protein kinase 3
OMIM: 602130, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red MAPKAPK3 in Mendeliome


Version 1.4516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • patterned macular dystrophy 3 MONDO:0014920

Red MAPKAPK3 in Macular Dystrophy/Stargardt Disease


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    Phenotypes
    • patterned macular dystrophy 3 MONDO:0014920