Tietz syndrome: genes and variants
Tietz syndrome is linked to 1 analyzed protein (MITF). 3 DNA variants are known to cause it; 263 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Tietz syndrome
MITF: Microphthalmia-associated transcription factor
3 disease-causing and 263 uncertain variants in MITF are linked to Tietz syndrome.
Known disease-causing variants in Tietz syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MITF E309K | 309 | Disease-causing (★★) | |
| MITF L318P | 318 | bHLH | Disease-causing (★★) |
| MITF N317K | 317 | bHLH | Disease-causing |
Same protein, different disease
- Waardenburg syndrome is also caused by MITF variants; they fall mostly in different places as the Tietz syndrome variants (10 disease-causing).
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness is also caused by MITF variants; they fall mostly in different places as the Tietz syndrome variants (3 disease-causing).
Diseases related to Tietz syndrome
- Waardenburg syndrome, also linked to MITF
- Melanoma, cutaneous malignant, susceptibility to, 8, also linked to MITF
- Melanoma, also linked to MITF
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness, also linked to MITF
Frequently asked questions
Which genes are linked to Tietz syndrome?
In CATVariant, Tietz syndrome is linked to 1 analyzed protein: MITF (Microphthalmia-associated transcription factor).
How many genetic variants are linked to Tietz syndrome?
277 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 263 are of uncertain significance or have conflicting reports.
Which uncertain variants in Tietz syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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