SASH3:Ensemblv90

SAM and SH3 domain containing 3
OMIM: 300441, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SASH3 in Mendeliome


Version 1.3802

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 102, MIM# 301082

Green SASH3 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 102, MIM# 301082

    Green SASH3 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.34

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 102, MIM# 301082

    Green SASH3 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Immunodeficiency 102, MIM# 301082

    Green SASH3 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 2.0

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Immunodeficiency 102, MIM# 301082