TSHR

thyroid stimulating hormone receptor
OMIM: 603372
PanelMode of inheritanceDetails
3 panels
R-numbers: R145
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Congenital hypothyroidism, Hypothyroidism, Congenital, Nongoitrous, 1, 275200, Hypothyroidism, congenital, nongoitrous, 1 275200, TSH resistance, thyroid hypoplasia, subclinical hypothyroidism, thyroid dysgenesis, eutopic gland-in-situ, compensated hypothryoidism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200
R-numbers: R182
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital, nonautoimmune hyperthyroidism, Hyperthyroidism, nonautoimmune, 609152