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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Most patients become wheelchair-bound in later childhood (OMIM).

Include for biallelic MLC2A, which is typically more severe that the monoallelic form
Created: 2 Dec 2024, 5:39 a.m. | Last Modified: 2 Dec 2024, 5:39 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (3)
OMIM
611642
Clinvar variants
Variants in HEPACAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, 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).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (3)

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HEPACAM were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEPACAM was added gene: HEPACAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)