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Intellectual disability

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green, based on the evidence provided by Konstantinos Varvagiannis and Zornitza Stark (Australian Genomics), which shows that there are enough cases to support gene-disease association.
Created: 22 Feb 2019, 2:46 p.m.
Created: 22 Feb 2019, 2:46 p.m.

Panel version: 2.736

Konstantinos Varvagiannis (Other)

Green List (high evidence)

ID is a feature of the HEPACAM-related disorders (clinical synopses : https://www.omim.org/clinicalSynopsis/table?mimNumber=613925,613926 ).

The gene is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc). It is however not associated with any phenotype in G2P.

As a result, it could be considered for upgrade to green as already proposed in a recent review.
Created: 21 Dec 2018, 12:49 a.m.

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

Publications

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

Created: 21 Dec 2018, 12:49 a.m.

Panel version: 2.588

Zornitza Stark (Australian Genomics)

Green List (high evidence)

28 patients reported in the literature, with both mono-allelic and bi-allelic variants in this gene; ID is part of the phenotype.
Created: 22 Jun 2018, 11:16 a.m.

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 2B, remitting, with or without mental retardation (AD); Megalencephalic leukoencephalopathy with subcortical cysts 2A (AR)

Publications

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

Created: 22 Jun 2018, 11:16 a.m.

Panel version: 2.109

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
None
Publications
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 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation (AD), 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A (AR), 613925 to Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926

22 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

22 Feb 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation (AD); Megalencephalic leukoencephalopathy with subcortical cysts 2A (AR) to Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation (AD), 613926; Megalencephalic leukoencephalopathy with subcortical cysts 2A (AR), 613925

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to HEPACAM.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

HEPACAM was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

HEPACAM was created by Zornitza Stark