Inherited white matter disorders
Gene: HEPACAMComment on mode of inheritance: Megalencephalic leukoencephalopathy with subcortical cysts 2A is biallelic, whereas Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation is monoallelic.Created: 16 Aug 2016, 11:22 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. more than 3 cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Created: 16 Aug 2016, 11:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HEPACAM were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts (MLC); 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
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for HEPACAM were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts (MLC);Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Phenotypes for HEPACAM were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy;Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
Publications for HEPACAM were set to 25655951
Mode of inheritance for HEPACAM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
HEPACAM was added to Inherited white matter disorderspanel. Sources: Expert list
HEPACAM was created by [email protected]