TBL1X

transducin beta like 1 X-linked
OMIM: 300196, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TBL1X in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green TBL1X in Congenital hypothyroidism


    Level 2: Endocrinology
    Version 3.3
    Latest signed off version: v3.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • isolated mild-moderate central hypothyroidism
    • Hypothyroidism, congenital, nongoitrous, 8, 301033
    Tags
    • missense