DGAT2:Ensemblv90

diacylglycerol O-acyltransferase 2
OMIM: 606983, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DGAT2 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related

Amber DGAT2 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • Expert Review
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related

    Amber DGAT2 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review
    • Expert Review Amber
    • Expert Review Amber
    Phenotypes
    • Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related