PHYKPL:Ensemblv90

5-phosphohydroxy-L-lysine phospho-lyase
OMIM: 614683, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PHYKPL in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • [?Phosphohydroxylysinuria] 615011

Red PHYKPL in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • phosphohydroxylysinuria MONDO:0014008

    Red PHYKPL in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • phosphohydroxylysinuria MONDO:0014008