Luscan-Lumish syndrome: genes and variants
Luscan-Lumish syndrome is linked to 1 analyzed protein (SETD2). 5 DNA variants are known to cause it; 400 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 Luscan-Lumish syndrome
SETD2: Histone-lysine N-methyltransferase SETD2
It deposits H3K36 trimethylation across actively transcribed genes and helps coordinate RNA processing, DNA repair, and genome stability. Somatic loss is common in renal and other cancers, while germline pathogenic variants can cause Luscan-Lumish overgrowth syndrome.
5 disease-causing and 400 uncertain variants in SETD2 are linked to Luscan-Lumish syndrome.
Known disease-causing variants in Luscan-Lumish syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SETD2 R1740W | 1740 | Disease-causing (★★★★) | |
| SETD2 R1708P | 1708 | Interaction with TUBA1A | Disease-causing (★) |
| SETD2 R1879C | 1879 | Disease-causing (★) | |
| SETD2 Y1666C | 1666 | SET | Disease-causing |
| SETD2 L1815W | 1815 | Disease-causing |
Diseases related to Luscan-Lumish syndrome
- Intellectual developmental disorder 62, also linked to SETD2
Frequently asked questions
Which genes are linked to Luscan-Lumish syndrome?
In CATVariant, Luscan-Lumish syndrome is linked to 1 analyzed protein: SETD2 (Histone-lysine N-methyltransferase SETD2).
How many genetic variants are linked to Luscan-Lumish syndrome?
558 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 400 are of uncertain significance or have conflicting reports.
Which uncertain variants in Luscan-Lumish 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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