Inherited white matter disorders
Gene: HEPACAM

HEPACAM (hepatic and glial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000165478
EnsemblGeneIds (GRCh37): ENSG00000165478
OMIM: 611642, Gene2Phenotype
HEPACAM is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Created: 16 Aug 2016, 11:21 a.m.

Panel version: 0.242

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_629

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Aug 2016, 2:35 p.m.

Panel version: 0.106

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926

OMIM

611642

Clinvar variants

Variants in HEPACAM

Penetrance

Complete

Publications

25655951

Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

6 Oct 2016, Gel status: 4