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 2.0

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 2.0

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 2.0

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