UGP2:Ensemblv115

UDP-glucose pyrophosphorylase 2
OMIM: 191760, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green UGP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy
  • intellectual disability
  • microcephaly