Specific granule deficiency: genes and variants
Specific granule deficiency is linked to 1 analyzed protein (CEBPE). 1 DNA variants are known to cause it; 89 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: Specific granule deficiency 1
Genes linked to Specific granule deficiency
CEBPE: CCAAT/enhancer-binding protein epsilon
A DNA-binding transcription factor in the CCAAT/enhancer-binding protein family. It activates gene programs needed for the transition from promyelocytes to mature myeloid cells and supports normal granulocyte development.
1 disease-causing and 89 uncertain variants in CEBPE are linked to Specific granule deficiency.
Known disease-causing variants in Specific granule deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CEBPE V218A | 218 | bZIP | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Specific granule deficiency?
In CATVariant, Specific granule deficiency is linked to 1 analyzed protein: CEBPE (CCAAT/enhancer-binding protein epsilon).
How many genetic variants are linked to Specific granule deficiency?
129 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 89 are of uncertain significance or have conflicting reports.
Which uncertain variants in Specific granule deficiency 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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