HEPACAM

hepatic and glial cell adhesion molecule
OMIM: 611642
PanelMode of inheritanceDetails
4 panels
R-numbers: R62
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926