MCTS1:Ensemblv90

MCTS1, re-initiation and release factor
OMIM: 300587, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MCTS1 in Mendeliome


Version 1.3802

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 118, mycobacteriosis, MIM# 301115

Green MCTS1 in Mendelian susceptibility to Immune Disorders


Level 2: Immunological disorders
Version 0.50

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 118, mycobacteriosis, MIM# 301115

Green MCTS1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.24

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
    • Expert list
    • Literature
    Phenotypes
    • Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related

    Green MCTS1 in Mendelian susceptibility to Immune Disorders


    Level 2: Immunological disorders
    Version 1.0

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Immunodeficiency 118, mycobacteriosis, MIM# 301115

    Green MCTS1 in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 2.0

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    • Expert list
    • Expert Review Green
    Phenotypes
    • Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related