1. Genes and Genomic Entities
  2. KY

KY

kyphoscoliosis peptidase
OMIM: 605739, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber KY in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UCL
    Phenotypes
    • Myopathy, myofibrillar, 7, OMIM:617114
    Tags
    • Q1_23_promote_green
    • Q1_23_NHS_review