Chédiak-Higashi syndrome: genes and variants
Chédiak-Higashi syndrome is linked to 1 analyzed protein (LYST). 6 DNA variants are known to cause it; 1,340 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Chediak-Higashi syndrome
Genes linked to Chédiak-Higashi syndrome
LYST: Lysosomal-trafficking regulator
It controls size, trafficking, and exocytosis of lysosome-related organelles in immune cells, melanocytes, and other tissues. Biallelic loss-of-function variants cause Chediak-Higashi syndrome with partial albinism, recurrent infection, bleeding, and risk of hemophagocytic lymphohistiocytosis.
6 disease-causing and 1,340 uncertain variants in LYST are linked to Chédiak-Higashi syndrome.
Known disease-causing variants in Chédiak-Higashi syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LYST H991N | 991 | Disease-causing (★★) | |
| LYST A1454D | 1454 | Disease-causing (★) | |
| LYST G3725R | 3725 | WD 6 | Disease-causing (★) |
| LYST L2379P | 2379 | Disease-causing (★) | |
| LYST K3365N | 3365 | BEACH | Disease-causing (★) |
| LYST C258R | 258 | Disease-causing |
Diseases related to Chédiak-Higashi syndrome
- Autoinflammatory syndrome, also linked to LYST
Frequently asked questions
Which genes are linked to Chédiak-Higashi syndrome?
In CATVariant, Chédiak-Higashi syndrome is linked to 1 analyzed protein: LYST (Lysosomal-trafficking regulator).
How many genetic variants are linked to Chédiak-Higashi syndrome?
1,451 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1,340 are of uncertain significance or have conflicting reports.
Which uncertain variants in Chédiak-Higashi 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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