Cerebral Palsy
Gene: ESAMEnsemblGeneIds (GRCh38): ENSG00000149564
EnsemblGeneIds (GRCh37): ENSG00000149564
OMIM: 614281, Gene2Phenotype
ESAM is in 6 panels
1 review
Luisa Weiss (University of Adelaide)
Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations.
ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to cause lack of ESAM expression in the capillary endothelial cells of damaged brain.
Sources: LiteratureCreated: 4 Sep 2023, 3:59 a.m. | Last Modified: 4 Sep 2023, 4 a.m.
Panel Version: 1.187
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371
- OMIM
- 614281
- Clinvar variants
- Variants in ESAM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: esam has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: esam has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ESAM was added gene: ESAM was added to Cerebral Palsy. Sources: Literature 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 MIM#620371 Review for gene: ESAM was set to GREEN