TBL1X

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red TBL1X in Autism


Version 0.27

review Not set
Sources
  • Expert Review Red
  • SFARI

Red TBL1X in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.159
Latest signed off version: v2.158 (29 Jun 2021)

review Not set
Sources
  • Expert

Green TBL1X in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.4
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

Green TBL1X in NewbornFullV1


Version 0.1

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green