B3GNT4

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
OMIM: 605864, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red B3GNT4 in Mendeliome


Version 1.4181

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Hereditary neurological disease, MONDO:0100545, B3GNT4-related

Red B3GNT4 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.120

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Literature
    Phenotypes
    • Hereditary neurological disease, MONDO:0100545, B3GNT4-related

    Red B3GNT4 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Literature
    Phenotypes
    • Hereditary neurological disease, MONDO:0100545, B3GNT4-related