HYKK:Ensemblv90

hydroxylysine kinase
OMIM: 614681, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red HYKK in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351

Red HYKK in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review Unknown
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351

    Red HYKK in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    1 review Unknown
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351