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  3. HEPACAM
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Leukodystrophy - adult onset

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 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with both mono-allelic and bi-allelic disease; bi-allelic disease is generally more severe. Onset is typically in infancy, however onset particularly of neurological features can be variable.
Created: 5 May 2020, 10:49 p.m. | Last Modified: 5 May 2020, 10:49 p.m.
Panel Version: 0.52

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926

Publications

Created: 5 May 2020, 10:49 p.m.
Last Modified: 5 May 2020, 10:49 p.m.
Panel version: 0.52

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926
OMIM
611642
Clinvar variants
Variants in HEPACAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hepacam has been classified as Green List (High Evidence).

5 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HEPACAM were set to

5 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HEPACAM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HEPACAM was added gene: HEPACAM was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926