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  3. ESAM
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Early onset or syndromic epilepsy

Gene: ESAM

Green List (high evidence)
ESAM (endothelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000149564
EnsemblGeneIds (GRCh37): ENSG00000149564
OMIM: 614281, Gene2Phenotype
ESAM is in 5 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:19 p.m.
Panel Version: 5.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 May 2024, 1:13 p.m.
Last Modified: 6 May 2024, 9:19 p.m.
Panel version: 5.6

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
Created: 13 Sep 2023, 8:08 p.m. | Last Modified: 13 Sep 2023, 8:08 p.m.
Panel Version: 5.284
As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine live-born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses.

This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.
Created: 13 Sep 2023, 8:04 p.m. | Last Modified: 13 Sep 2023, 8:11 p.m.
Panel Version: 5.284

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371

Publications

Created: 13 Sep 2023, 8:04 p.m.
Last Modified: 13 Sep 2023, 8:11 p.m.
Copied from panel: Intellectual disability - microarray and sequencing v5.284

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

Lecca et al 2023 reported thirteen patients from eight unrelated families with biallelic loss of function variants (nonsense, frameshift, canonical splice site, all predicted to result in a transcript targeted for nonsense-mediated decay). Protein staining assays in one of the brain fetal samples confirmed loss the loss of protein.
The phenotype reported in this cohort is of a severe neurodevelopmental disorder with brain anomalies (calcifications, hydrocephalus, enlarged ventricles, cerebral atrophy, etc), and dysmorphic features.
Sources: Literature, Expert Review
Created: 1 Sep 2023, 12:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe ID; seizures, spasticity

Publications

Created: 1 Sep 2023, 12:24 p.m.

Copied from panel: Intellectual disability - microarray and sequencing v5.284

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
  • Literature
Phenotypes
  • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
OMIM
614281
Clinvar variants
Variants in ESAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: ESAM.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ESAM. Source Expert Review Green was added to ESAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Sep 2023, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_NHS_review was removed from gene: ESAM.

13 Sep 2023, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ESAM was added gene: ESAM was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature,Expert Review Q3_23_promote_green, Q3_23_NHS_review tags were added to gene: ESAM. Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 36996813 Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371