1. Genes and Genomic Entities
  2. SHPK

SHPK

sedoheptulokinase
OMIM: 605060, Gene2Phenotype

2 panels

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

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.643

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sedoheptulokinase deficiency (Other metabolic disorders)
  • [Sedoheptulokinase deficiency] 617213
Red SHPK in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.105
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
    • Sedoheptulokinase deficiency (Other metabolic disorders)
    • [Sedoheptulokinase deficiency] 617213