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GENATLAS PHENOTYPE

last update : 24-06-2020

Symbol	CHNG4
Location	1p13.2
Name	hypothyroidism, pituitary, familial, nongoitrous
Corresponding gene	TSHB
Other symbol(s)	TSHB
Main clinical features	isolated thyrotropin deficiency , with low thyroid hormone levels and radioactive iodine uptake in the thyroid gland associated with measurable serum TSH
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	thyroid stimulating hormone, beta polypeptide (TSHB)

Remark(s)