White matter disorders and cerebral calcification - narrow panel
Gene: HEPACAMPhenotypes for gene: HEPACAM were changed from 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 to Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: HEPACAM was added gene: HEPACAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HEPACAM were set to 25655951 Phenotypes for gene: HEPACAM were set to 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