HEPACAM

hepatic and glial cell adhesion molecule
OMIM: 611642, Gene2Phenotype

5 panels

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


Level 2: Neurology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
    • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
    Green HEPACAM in Adult onset leukodystrophy


    Level 2: Neurology
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
    • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
    Green HEPACAM in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
    • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926
    Green HEPACAM in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.0 (6 May 2026)

    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
    Green HEPACAM in Intellectual disability


    Level 2: Developmental disorders
    Version 10.16
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
    • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926