PanelApp (stage)
  1. Genes and Genomic Entities
  2. SGCE

SGCE

sarcoglycan epsilon
OMIM: 604149, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red SGCE in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dystonia-11, myoclonic, MIM#159900

Green SGCE in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia-11, myoclonic, MIM# 159900
  • MONDO:0008044

Green SGCE 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, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dystonia-11, myoclonic, MIM# 159900

    Red SGCE in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dystonia-11, myoclonic, MIM# 159900
    • MONDO:0008044

    Green SGCE in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Dystonia-11, myoclonic, MIM# 159900
    • MONDO:0008044

    Green SGCE in Imprinting disorders


    Version 1.3

    		review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Affected tissue: brain
    • Phenotype resulting from under expression: upper body myoclonus, dystonia
    • Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044