1. Genes and Genomic Entities
  2. PHKG1

PHKG1

phosphorylase kinase catalytic subunit gamma 1
OMIM: 172470, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PHKG1 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Not set
    Sources
    • UKGTN
    Red PHKG1 in Undiagnosed metabolic disorders

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

    		review Unknown
    Sources
    • Expert Review Red
    • UKGTN
    Red PHKG1 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 Unknown
    Sources
    • Expert Review Red
    Red PHKG1 in Acute rhabdomyolysis


    Level 2: Neurology
    Version 2.7
    Latest signed off version: v2.0 (30 Apr 2025)

    		review Unknown
    Sources
    • NHS GMS
    • Expert Review Red