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THRB

thyroid hormone receptor beta

HCNC Approved Symbol
THRB (HGNC:11799)
Genomic Coordinates
3:24,117,153 - 24,495,708 (3p24.2)
Synonyms
THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH, TRbeta, TRb, c-erbA-beta, c-erbA-2, THRbeta, TRbeta1, THRbeta1, Thrbeta2, ERBA2, PRTH
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Thyroid hormone resistance
188570AD
Thyroid hormone resistance, autosomal recessive
274300AR
Thyroid hormone resistance, selective pituitary
145650AD

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the THRB gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Thyroid hormone resistance
 2 (66.7%)
Palpitations
 1 (33.3%)
Congenital hypothyroidism
 1 (33.3%)
Constipation
 1 (33.3%)
Arrhythmia
 1 (33.3%)