PACS2

phosphofurin acidic cluster sorting protein 2
OMIM: 610423, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PACS2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 66 - MIM#618067

Green PACS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 66 - MIM#618067

    Green PACS2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 66, MIM#618067

    Green PACS2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 66 - MIM#618067