KEL:Ensemblv90

Kell blood group, metallo-endopeptidase
OMIM: 613883, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red KEL in Mendeliome


Version 1.3802

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • vein of Galen aneurysm, MONDO:0015196

Red KEL in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.9

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • Vascular Malformations SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • vein of Galen aneurysm, MONDO:0015196

    Red KEL in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • vein of Galen aneurysm, MONDO:0015196