Ivone Leong Phenotypes for gene: TBL1X were changed from isolated mild-moderate central hypothyroidism to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033
Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on new evidence provided by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Martina Owens reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27603907, 30591955; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)