Thyroid hormone resistance, generalized, autosomal dominant: genes and variants
Thyroid hormone resistance, generalized, autosomal dominant is linked to 1 analyzed protein (THRB). 35 DNA variants are known to cause it; 16 more are uncertain, and 2 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: thyroid hormone resistance, generalized, autosomal recessive
Genes linked to Thyroid hormone resistance, generalized, autosomal dominant
THRB: Thyroid hormone receptor beta
35 disease-causing and 16 uncertain variants in THRB are linked to Thyroid hormone resistance, generalized, autosomal dominant.
Where Thyroid hormone resistance, generalized, autosomal dominant variants cluster
- THRB NR LBD (positions 217–461): 35 of 35 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Thyroid hormone resistance, generalized, autosomal dominant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| THRB R243W | 243 | NR LBD | Disease-causing (★★★★) |
| THRB R429Q | 429 | NR LBD | Disease-causing (★★★★) |
| THRB R320C | 320 | NR LBD | Disease-causing (★★) |
| THRB R320L | 320 | NR LBD | Disease-causing (★★) |
| THRB G345S | 345 | NR LBD | Disease-causing (★★) |
| THRB P453S | 453 | NR LBD | Disease-causing (★★) |
| THRB P453T | 453 | NR LBD | Disease-causing (★★) |
| THRB P453A | 453 | NR LBD | Disease-causing (★★) |
| THRB P453N | 453 | NR LBD | Disease-causing (★★) |
| THRB A268G | 268 | NR LBD | Disease-causing (★★) |
| THRB T277I | 277 | NR LBD | Disease-causing (★★) |
| THRB H435Q | 435 | NR LBD | Disease-causing (★★) |
| THRB M442V | 442 | NR LBD | Disease-causing (★★) |
| THRB V458A | 458 | NR LBD | Disease-causing (★★) |
| THRB R243Q | 243 | NR LBD | Disease-causing (★★) |
| THRB M313T | 313 | NR LBD | Disease-causing (★★) |
| THRB R316H | 316 | NR LBD | Disease-causing (★★) |
| THRB R338W | 338 | NR LBD | Disease-causing (★★) |
| THRB V349M | 349 | NR LBD | Disease-causing (★★) |
| THRB R383H | 383 | NR LBD | Disease-causing (★★) |
| THRB E460K | 460 | NR LBD | Disease-causing (★★) |
| THRB P453L | 453 | NR LBD | Disease-causing (★) |
| THRB Q340H | 340 | NR LBD | Disease-causing (★) |
| THRB F451V | 451 | NR LBD | Disease-causing (★) |
| THRB I353T | 353 | NR LBD | Disease-causing (★) |
| THRB G345C | 345 | NR LBD | Disease-causing |
| THRB G345R | 345 | NR LBD | Disease-causing |
| THRB P453H | 453 | NR LBD | Disease-causing |
| THRB S314F | 314 | NR LBD | Disease-causing |
| THRB T327N | 327 | NR LBD | Disease-causing |
| THRB G344E | 344 | NR LBD | Disease-causing |
| THRB G347E | 347 | NR LBD | Disease-causing |
| THRB K443E | 443 | NR LBD | Disease-causing |
| THRB L450F | 450 | NR LBD | Disease-causing |
| THRB E326G | 326 | NR LBD | Disease-causing |
Uncertain variants in Thyroid hormone resistance, generalized, autosomal dominant that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| THRB A268D | 268 | NR LBD | Conflicting reports (★) | +6: in a 3D region that tolerates change poorly (1A); A268G at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.71 |
| THRB R243G | 243 | NR LBD | Uncertain | +6: 2 other pathogenic changes within 3 positions; R243W at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.95 |
Same protein, different disease
- Hyperthyroidism is also caused by THRB variants; they fall in the same places as the Thyroid hormone resistance, generalized, autosomal dominant variants (10 disease-causing).
- Generalized resistance to thyroid hormone is also caused by THRB variants; they fall in the same places as the Thyroid hormone resistance, generalized, autosomal dominant variants (4 disease-causing).
Diseases related to Thyroid hormone resistance, generalized, autosomal dominant
- Hyperthyroidism, also linked to THRB
- Hypothyroidism, also linked to THRB
- Selective pituitary resistance to thyroid hormone, also linked to THRB
- Generalized resistance to thyroid hormone, also linked to THRB
- Thyroid hormone resistance syndrome, also linked to THRB
Frequently asked questions
Which genes are linked to Thyroid hormone resistance, generalized, autosomal dominant?
In CATVariant, Thyroid hormone resistance, generalized, autosomal dominant is linked to 1 analyzed protein: THRB (Thyroid hormone receptor beta).
How many genetic variants are linked to Thyroid hormone resistance, generalized, autosomal dominant?
64 variants: 35 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 16 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thyroid hormone resistance, generalized, autosomal dominant look disease-causing?
2 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example THRB A268D and THRB R243G. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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