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Gene

WAS

WASP actin nucleation promoting factor

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 48,683,799–48,691,427 (GRCh38)
Exons
12 exons across 7.6 kb
Protein
502 amino acids
Inheritance
X-linked recessive
Also known as
WASP, WASPA
Previous symbols
IMD2, THC
MANE Select transcript
ENST00000376701.5NM_000377.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

  • Severe Congenital Neutropenia

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

  • Wiskott-Aldrich Syndrome Spectrum

    • Wiskott-Aldrich syndrome (WAS)X-linked recessive

      Low numbers of small platelets, eczema and combined immunodeficiency in boys caused by changes in WAS.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Haematopoietic stem cell transplantation or gene therapy can be curative, and early diagnosis guides bleeding precautions, infection prevention and family testing.

    • X-linked thrombocytopenia (WAS)X-linked recessive

      A milder WAS-related condition in which low, small platelets are the main feature, with little or no immunodeficiency.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the cause avoids misdiagnosis as immune thrombocytopenia and guides bleeding precautions and monitoring.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How WAS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where WAS sits. WAS and 35 genes near it on chromosome X, from 48,187,613 to 49,187,612.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848.2 Mb48.4 Mb48.6 Mb48.8 Mb49 MbSSX5: 48,186,220–48,196,797, reverse strandSSX5SSX1: 48,255,368–48,267,444, forward strandSSX1SSX3: 48,337,725–48,356,750, reverse strandSSX3SSX4: 48,383,516–48,393,347, forward strandSSX4SSX4B: 48,402,082–48,411,960, reverse strandSSX4BSLC38A5: 48,458,536–48,470,554, reverse strandSLC38A5FTSJ1: 48,476,021–48,486,364, forward strandFTSJ1PORCN: 48,508,574–48,520,814, forward strandPORCNEBP: 48,521,089–48,528,716, forward strandEBP: 48,521,806–48,545,469, forward strandTBC1D25: 48,539,623–48,562,613, forward strandTBC1D25RBM3: 48,574,056–48,581,162, forward strandRBM3WDR13: 48,589,838–48,608,869, forward strandWDR13WAS: 48,683,799–48,691,427, forward strandWASSUV39H1: 48,695,554–48,709,556, forward strandSUV39H1GLOD5: 48,761,744–48,773,648, forward strandGLOD5GATA1: 48,783,122–48,794,311, forward strandGATA1HDAC6: 48,801,372–48,824,986, forward strandHDAC6ERAS: 48,826,513–48,830,138, forward strandERASPCSK1N: 48,831,088–48,835,632, reverse strandPCSK1NTIMM17B: 48,880,274–48,898,143, reverse strandTIMM17BPQBP1: 48,890,197–48,903,640, forward strandPQBP1SLC35A2: 48,903,180–48,911,958, reverse strandSLC35A2PIM2: 48,913,172–48,919,546, reverse strandPIM2OTUD5: 48,922,024–48,958,390, reverse strandKCND1: 48,960,982–48,971,916, reverse strandKCND1GRIPAP1: 48,973,719–49,002,265, reverse strandGRIPAP1TFE3: 49,028,726–49,043,512, reverse strandTFE3CCDC120: 49,053,463–49,073,357, forward strandCCDC120PRAF2: 49,070,107–49,074,022, reverse strandPRAF2: 49,071,470–49,079,887, reverse strandWDR45: 49,074,431–49,101,203, reverse strandWDR45GPKOW: 49,112,941–49,123,750, reverse strandGPKOWMAGIX: 49,162,564–49,169,931, forward strandMAGIXPLP2: 49,171,787–49,175,387, forward strandPLP2PRICKLE3: 49,174,802–49,186,528, reverse strandPRICKLE3Diagram of WAS: 12 exons on the forward strand of chromosome XExon 1: 17 known disease-causing sitesExon 2: 21 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 12 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 24 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 12: 1 known disease-causing siteExon 1: 48,683,799–48,683,985, 187 basesExon 2: 48,684,283–48,684,423, 141 basesExon 3: 48,685,547–48,685,633, 87 basesExon 4: 48,685,734–48,685,836, 103 basesExon 5: 48,685,946–48,685,987, 42 basesExon 6: 48,686,081–48,686,134, 54 basesExon 7: 48,686,781–48,686,955, 175 basesExon 8: 48,688,054–48,688,096, 43 basesExon 9: 48,688,300–48,688,453, 154 basesExon 10: 48,688,660–48,689,066, 407 basesExon 11: 48,689,320–48,689,434, 115 basesExon 12: 48,691,107–48,691,427, 321 bases1234567891011125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.8 kb of the gene's 7.6 kb; 1,509 of those bases code for the protein.

How a genome test reads WAS

146

positions in WAS where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 7.6 kb of WAS, introns included, not only the 1.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). WAS gene: WASP actin nucleation promoting factor. Retrieved 17 October 2026, from https://dantelabs.com/genes/was

Vancouver

Dante Labs. WAS gene: WASP actin nucleation promoting factor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/was

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