1. Genes and Genomic Entities
  2. ESAM

ESAM

endothelial cell adhesion molecule
OMIM: 614281, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ESAM in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
    Green ESAM in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
    Green ESAM in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
    Green ESAM in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
    Green ESAM in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371