Trait
Low blood cell count
Clinical name: Pancytopenia
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Summary
- Also called
- Pancytopaenia
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Low blood cell count, and the rest of your genome, with one test.
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Get my Genome Test132 genes linked to Low blood cell count
Changes in these genes cause rare conditions in which Low blood cell count is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AK2adenylate kinase 2 | Always | In 1 condition |
| DNASE2deoxyribonuclease 2, lysosomal | Always | In 1 condition |
| DPP9dipeptidyl peptidase 9 | Always | In 1 condition |
| EXOC3L2exocyst complex component 3 like 2 | Always | In 1 condition |
| FAAP100FA core complex associated protein 100 | Always | In 1 condition |
| FANCCFA complementation group C | Always | In 1 condition |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Always | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Always | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 2 conditions |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Always | In 1 condition |
| PLD4phospholipase D family member 4 | Always | In 1 condition |
| PRF1perforin 1 | Always | In 2 conditions |
| PSKH1protein serine kinase H1 | Always | In 1 condition |
| PTCRApre T cell antigen receptor alpha | Always | In 1 condition |
| PTPRCprotein tyrosine phosphatase receptor type C | Always | In 1 condition |
| RPL17ribosomal protein L17 | Always | In 1 condition |
| SH2D1ASH2 domain containing 1A | Always | In 1 condition |
| SMAD4SMAD family member 4 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| STN1STN1 subunit of CST complex | Always | In 1 condition |
| THPOthrombopoietin | Always | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Always | In 1 condition |
| XIAPX-linked inhibitor of apoptosis | Always | In 3 conditions |
| ALPK1alpha kinase 1 | Very often (80–99%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 7 conditions |
| RAB27ARAB27A, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| DCLRE1BDNA cross-link repair 1B | Often (30–79%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Often (30–79%) | In 3 conditions |
| DUTdeoxyuridine triphosphatase | Often (30–79%) | In 1 condition |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Often (30–79%) | In 1 condition |
| GALEUDP-galactose-4-epimerase | Often (30–79%) | In 1 condition |
| IFNGinterferon gamma | Often (30–79%) | In 2 conditions |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Often (30–79%) | In 1 condition |
| ITKIL2 inducible T cell kinase | Often (30–79%) | In 1 condition |
| LIG4DNA ligase 4 | Often (30–79%) | In 2 conditions |
| MRPS7mitochondrial ribosomal protein S7 | Often (30–79%) | In 1 condition |
| NABP1nucleic acid binding protein 1 | Often (30–79%) | In 1 condition |
Show 92 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NAXDNAD(P)HX dehydratase | Often (30–79%) | In 2 conditions |
| NHEJ1non-homologous end joining factor 1 | Often (30–79%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Often (30–79%) | In 2 conditions |
| NLRC4NLR family CARD domain containing 4 | Often (30–79%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NPM1nucleophosmin 1 | Often (30–79%) | In 1 condition |
| NUMA1nuclear mitotic apparatus protein 1 | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| PMLPML nuclear body scaffold | Often (30–79%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Often (30–79%) | In 1 condition |
| PSMB9proteasome 20S subunit beta 9 | Often (30–79%) | In 1 condition |
| RAC2Rac family small GTPase 2 | Often (30–79%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| RARAretinoic acid receptor alpha | Often (30–79%) | In 1 condition |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Often (30–79%) | In 3 conditions |
| SCARB2scavenger receptor class B member 2 | Often (30–79%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Often (30–79%) | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Often (30–79%) | In 1 condition |
| SRP72signal recognition particle 72 | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STAT5Bsignal transducer and activator of transcription 5B | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 1 condition |
| TCF3transcription factor 3 | Often (30–79%) | In 1 condition |
| TCN2transcobalamin 2 | Often (30–79%) | In 2 conditions |
| TERCtelomerase RNA component | Often (30–79%) | In 2 conditions |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 3 conditions |
| TNFRSF9TNF receptor superfamily member 9 | Often (30–79%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Often (30–79%) | In 1 condition |
| ZBTB16zinc finger and BTB domain containing 16 | Often (30–79%) | In 1 condition |
| AMNamnion associated transmembrane protein | Sometimes (5–29%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Sometimes (5–29%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 1 condition |
| CALRcalreticulin | Sometimes (5–29%) | In 1 condition |
| CBLCbl proto-oncogene | Sometimes (5–29%) | In 1 condition |
| CD27CD27 molecule | Sometimes (5–29%) | In 1 condition |
| CIITAclass II major histocompatibility complex transactivator | Sometimes (5–29%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Sometimes (5–29%) | In 1 condition |
| CUBNcubilin | Sometimes (5–29%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| JAK2Janus kinase 2 | Sometimes (5–29%) | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| LRBALPS responsive beige-like anchor protein | Sometimes (5–29%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 2 conditions |
| MPLMPL proto-oncogene, thrombopoietin receptor | Sometimes (5–29%) | In 2 conditions |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Sometimes (5–29%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sometimes (5–29%) | In 1 condition |
| RFX5regulatory factor X5 | Sometimes (5–29%) | In 1 condition |
| RFXANKregulatory factor X associated ankyrin containing protein | Sometimes (5–29%) | In 1 condition |
| RFXAPregulatory factor X associated protein | Sometimes (5–29%) | In 1 condition |
| RPA1replication protein A1 | Sometimes (5–29%) | In 1 condition |
| RUNX1RUNX family transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SAMD9Lsterile alpha motif domain containing 9 like | Sometimes (5–29%) | In 2 conditions |
| SLC46A1solute carrier family 46 member 1 | Sometimes (5–29%) | In 1 condition |
| SP110SP110 nuclear body protein | Sometimes (5–29%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Sometimes (5–29%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Sometimes (5–29%) | In 3 conditions |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Rarely (1–4%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Rarely (1–4%) | In 1 condition |
| GNASGNAS complex locus | Rarely (1–4%) | In 1 condition |
| HAVCR2hepatitis A virus cellular receptor 2 | Rarely (1–4%) | In 1 condition |
| SF3B1splicing factor 3b subunit 1 | Rarely (1–4%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ATRATR checkpoint kinase | Not recorded | In 1 condition |
| BACH2BACH transcriptional regulator 2 | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| DHFRdihydrofolate reductase | Not recorded | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Not recorded | In 1 condition |
| FANCAFA complementation group A | Not recorded | In 1 condition |
| FANCD2FA complementation group D2 | Not recorded | In 1 condition |
| FANCEFA complementation group E | Not recorded | In 1 condition |
| GATA2GATA binding protein 2 | Not recorded | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Not recorded | In 1 condition |
| IVDisovaleryl-CoA dehydrogenase | Not recorded | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Not recorded | In 1 condition |
| MMABmetabolism of cobalamin associated B | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| PCCApropionyl-CoA carboxylase subunit alpha | Not recorded | In 1 condition |
| PCCBpropionyl-CoA carboxylase subunit beta | Not recorded | In 1 condition |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Not recorded | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Not recorded | In 1 condition |
| SAMD9sterile alpha motif domain containing 9 | Not recorded | In 1 condition |
| SRP54signal recognition particle 54 | Not recorded | In 1 condition |
| TALDO1transaldolase 1 | Not recorded | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Not recorded | In 1 condition |
| TNFRSF4TNF receptor superfamily member 4 | Not recorded | In 1 condition |
| TNFSF11TNF superfamily member 11 | Not recorded | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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