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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 6 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.

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

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

Details

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

History Filter Activity

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