Monocytopenia with susceptibility to infections: genes and variants
Monocytopenia with susceptibility to infections is linked to 1 analyzed protein (GATA2). 12 DNA variants are known to cause it; 583 more are uncertain, and 2 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Monocytopenia with susceptibility to infections
GATA2: Endothelial transcription factor GATA-2
It maintains hematopoietic stem and progenitor cells and directs development of monocytes, dendritic cells, NK cells, and other blood lineages. Haploinsufficiency causes GATA2 deficiency with immunodeficiency, cytopenias, and high risk of myelodysplastic syndrome or AML.
12 disease-causing and 583 uncertain variants in GATA2 are linked to Monocytopenia with susceptibility to infections.
Where Monocytopenia with susceptibility to infections variants cluster
- GATA2 GATA-type 2 (positions 349–373): 6 of 12 disease-causing changes, 9.6× more than its size predicts.
Known disease-causing variants in Monocytopenia with susceptibility to infections
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA2 R398Q | 398 | Disease-causing (★★) | |
| GATA2 R361C | 361 | GATA-type 2 | Disease-causing (★★) |
| GATA2 A372T | 372 | GATA-type 2 | Disease-causing (★★) |
| GATA2 N371K | 371 | GATA-type 2 | Disease-causing (★★) |
| GATA2 C373R | 373 | GATA-type 2 | Disease-causing (★★) |
| GATA2 L375F | 375 | Disease-causing (★★) | |
| GATA2 R396Q | 396 | Disease-causing (★★) | |
| GATA2 T354M | 354 | GATA-type 2 | Disease-causing (★★) |
| GATA2 R398G | 398 | Disease-causing (★) | |
| GATA2 T176P | 176 | Disease-causing (★) | |
| GATA2 P368R | 368 | GATA-type 2 | Disease-causing (★) |
| GATA2 R384G | 384 | Disease-causing (★) |
Uncertain variants in Monocytopenia with susceptibility to infections that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| GATA2 P368A | 368 | GATA-type 2 | Uncertain (★) | +7: 2 other pathogenic changes within 3 positions; P368R at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.931 |
| GATA2 P368S | 368 | GATA-type 2 | Uncertain (★★) | +6: 2 other pathogenic changes within 3 positions; P368R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
Which prediction tools work for Monocytopenia with susceptibility to infections
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 100 out of 100
Same protein, different disease
- Deafness-lymphedema-leukemia syndrome is also caused by GATA2 variants; they fall in the same places as the Monocytopenia with susceptibility to infections variants (35 disease-causing).
- GATA2 deficiency with susceptibility to MDS/AML is also caused by GATA2 variants; they fall in the same places as the Monocytopenia with susceptibility to infections variants (32 disease-causing).
Diseases related to Monocytopenia with susceptibility to infections
- Deafness-lymphedema-leukemia syndrome, also linked to GATA2
- Acute myeloid leukemia, also linked to GATA2
- GATA2 deficiency with susceptibility to MDS/AML, also linked to GATA2
- Myelodysplastic syndrome, also linked to GATA2
Frequently asked questions
Which genes are linked to Monocytopenia with susceptibility to infections?
In CATVariant, Monocytopenia with susceptibility to infections is linked to 1 analyzed protein: GATA2 (Endothelial transcription factor GATA-2).
How many genetic variants are linked to Monocytopenia with susceptibility to infections?
613 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 583 are of uncertain significance or have conflicting reports.
Which uncertain variants in Monocytopenia with susceptibility to infections look disease-causing?
2 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GATA2 P368A and GATA2 P368S. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Monocytopenia with susceptibility to infections?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 1.00, based on 10 disease-causing and 11 harmless variants).
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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