TBL1X

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red TBL1X in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red TBL1X in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.25
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    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