White matter disorders and cerebral calcification - narrow panel
Gene: ESAMEnsemblGeneIds (GRCh38): ENSG00000149564
EnsemblGeneIds (GRCh37): ENSG00000149564
OMIM: 614281, Gene2Phenotype
ESAM is in 5 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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, 1:22 p.m. | Last Modified: 2 May 2024, 1:22 p.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
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
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)
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 ReviewCreated: 1 Sep 2023, 12:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe ID; seizures, spasticity
Publications
- PMID: 36996813
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: ESAM.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ESAM. Source NHS GMS was added to ESAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_NHS_review was removed from gene: ESAM.
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 White matter disorders and cerebral calcification - narrow panel. 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