PHYKPL

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PHYKPL in Mendeliome


Version 2.0

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 2.0

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