SEPTIN6

septin 6
OMIM: 300683, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SEPTIN6 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.7

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, SEPTIN6-related

    Amber SEPTIN6 in Mendeliome


    Version 2.76

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, SEPTIN6-related

    Amber SEPTIN6 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 2.2

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, SEPTIN6-related