Genomics England
GMS Panels
Panels
Genes and Entities

TBL1X

transducin beta like 1 X-linked
OMIM: 300196
PanelMode of inheritanceDetails
1 panel
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
isolated mild-moderate central hypothyroidism, Hypothyroidism, congenital, nongoitrous, 8, 301033