HEPACAM

hepatic and glial cell adhesion molecule
OMIM: 611642
PanelMode of inheritanceDetails
4 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation (AD), 613926, Megalencephalic leukoencephalopathy with subcortical cysts 2A (AR), 613925
R-numbers: R62
Signed-off version 1.25
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts (MLC), General Leukodystrophy & Mitochondrial Leukoencephalopathy, Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation