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Brain Calcification

Gene: ESAM

Green List (high evidence)
ESAM (endothelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000149564
EnsemblGeneIds (GRCh37): ENSG00000149564
OMIM: 614281, Gene2Phenotype
ESAM is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371

Created: 14 May 2023, 4:37 a.m.
Last Modified: 14 May 2023, 4:37 a.m.
Panel version: 1.90

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 36996813
- Thirteen affected individuals, including four fetuses, from eight unrelated families, with homozygous loss-of-function-type variants in ESAM – 2 of the variants are frameshifts, 1x nonsense, 1x canonical splice.
- Affected individuals have 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 fetuses.
- One of the frameshift variant c.115del (p.Arg39Glyfs*33), was detected in six individuals from four unrelated families from the same geographic region in Turkey (southeastern Anatolia), suggesting a founder effect.
- The c.451+1G>A variant was detected in three individuals from two independent families with the same ethnic origin (Arab Bedouin)
Sources: Literature
Created: 6 Apr 2023, 2:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), ESAM-related

Publications

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

Created: 6 Apr 2023, 2:45 a.m.

Panel version: 1.50

Details

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

History Filter Activity

14 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ESAM were changed from Neurodevelopmental disorder (MONDO#0700092), ESAM-related to Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371

6 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Apr 2023, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: ESAM was added gene: ESAM was added to Brain Calcification. 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 (MONDO#0700092), ESAM-related Review for gene: ESAM was set to GREEN gene: ESAM was marked as current diagnostic