TSHB

thyroid stimulating hormone beta
OMIM: 188540
PanelMode of inheritanceDetails
3 panels
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hypothyroidism, Hypothryoidism, congenital, nongoitrous 4, 275100, severe isolated central hypothyroidism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4