HEPACAM

hepatic and glial cell adhesion molecule
OMIM: 611642, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green HEPACAM in White matter disorders and cerebral calcification - narrow panel


Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 White matter disorders - adult onset


    Version 1.43
    Latest signed off version: v1.25 (5 Aug 2021)

    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 1.159

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.558
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green HEPACAM in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926
    • Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925