G6PC

glucose-6-phosphatase catalytic subunit
OMIM: 613742, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green G6PC in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 1.2

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease Ia, MIM# 232200
    Tags
    • treatable

    Green G6PC in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease Ia, MIM# 232200
    Tags
    • treatable

    Green G6PC in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycogen storage disease Ia, 232200 (3)

    Green G6PC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease Ia

    Green G6PC in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycogen storage disease Ia, 232200 (3)

    Green G6PC in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Glycogen storage disease Ia, MIM#232200
    Tags
    • treatable
    • metabolic

    Green G6PC in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycogen storage disease Ia, 232200 (3)