SHPK

sedoheptulokinase
OMIM: 605060, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SHPK in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sedoheptulokinase deficiency MIM#617213

Amber SHPK in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Sedoheptulokinase deficiency MIM#617213