LGI1

leucine rich glioma inactivated 1
OMIM: 604619
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 9.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Epilepsy, familial temporal lobe, 1, OMIM:600512, developmental and epileptic encephalopathy, MONDO:0100620