ESAM

endothelial cell adhesion molecule
OMIM: 614281, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green ESAM in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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
Amber ESAM in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 Tags Q4_23_promote_green Q4_23_expert_review
Green ESAM in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.6 Latest signed off version: v5.0 (1 May 2024) 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 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) 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