GK

glycerol kinase
OMIM: 300474, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GK in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycerol kinase deficiency MIM#307030
  • Disorders of glycerol metabolism

Green GK in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Genetic Health Queensland
  • Expert Review Green

Green GK in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycerol kinase deficiency, 307030 (3)

Green GK in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Glycerol kinase deficiency MIM#307030
    • Disorders of glycerol metabolism

    Red GK in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Glycerol kinase deficiency MIM#307030

    Red GK in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Glycerol kinase deficiency, 307030 (3)