1. Genes and Genomic Entities
  2. PHYKPL

PHYKPL

5-phosphohydroxy-L-lysine phospho-lyase
OMIM: 614683, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red PHYKPL in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
  • [?Phosphohydroxylysinuria] 615011
Red PHYKPL in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism)
    • [?Phosphohydroxylysinuria] 615011