1. Genes and Genomic Entities
  2. KY

KY

kyphoscoliosis peptidase
OMIM: 605739, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KY in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 7, OMIM #617114
Green KY in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, myofibrillar, 7, MIM#617114
Green KY in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.42

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Myopathy, myofibrillar, 7 (MIM#617114)
    Green KY in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
    Green KY in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myopathy, myofibrillar, 7 (MIM#617114)