PanelApp (test)
  1. Genes and Genomic Entities
  2. SERPINI1

SERPINI1

serpin family I member 1
OMIM: 602445, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SERPINI1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218

Green SERPINI1 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218

    Green SERPINI1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218

    Green SERPINI1 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.19

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Encephalopathy, familial, with neuroserpin inclusion bodies