AGK

acylglycerol kinase
OMIM: 610345, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green AGK in Cataract


Level 2: Ophthalmological disorders
Version 0.373

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sengers syndrome, MIM#212350
  • Cataract 38 MIM#614691

Green AGK in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sengers syndrome, MIM#212350
  • Cataract 38 MIM#614691

Green AGK in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Red AGK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Sengers syndrome, MIM#212350

    Green AGK in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Sengers Syndrome (MIM#212350
    • MONDO:0008922)

    Green AGK in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Sengers syndrome, 212350 (3)

    Green AGK in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Sengers syndrome, 212350

    Green AGK in Fetal anomalies


    Version 1.313

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Sengers syndrome, MIM#212350

    Green AGK in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Sengers syndrome, 212350 (3)

    Green AGK in Prepair 500+


    Level 2: Screening
    Version 1.5

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Sengers syndrome, 212350 (3)