Inherited white matter disorders

Gene: HEPACAM

Green List (high evidence)

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.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 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
OMIM
611642
Clinvar variants
Variants in HEPACAM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

16 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HEPACAM were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy;Megalencephalic leukoencephalopathy with subcortical cysts (MLC)

16 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HEPACAM were set to 25655951

16 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HEPACAM was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

16 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

HEPACAM was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

HEPACAM was created by [email protected]