Skip to content
Use your HSA or FSA funds

Gene

WDR45

WD repeat domain 45

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 49,074,442–49,079,887 (GRCh38)
Exons
11 exons across 5.4 kb
Protein
360 amino acids
Also known as
JM5, WIPI4, NBIA5
Previous symbols
WDRX1
MANE Select transcript
ENST00000376372.9NM_001029896.2
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

  • Epilepsy (Full Panel)

    • X-Linked Complex Neurodevelopmental Disorder

      A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

  • Neurodegeneration with Brain Iron Accumulation (NBIA)

    • Neurodegeneration with Brain Iron Accumulation

      A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.

      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.

How WDR45 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where WDR45 sits. WDR45 and 40 genes near it on chromosome X, from 48,577,165 to 49,577,164.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848.6 Mb48.8 Mb49 Mb49.2 Mb49.4 MbRBM3: 48,574,056–48,581,162, forward strandRBM3WDR13: 48,589,838–48,608,869, forward strandWDR13WAS: 48,676,593–48,691,431, 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 strandPQBP1: 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 strandOTUD5KCND1: 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: 49,074,442–49,079,887, 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 strandPRICKLE3SYP: 49,187,807–49,200,218, reverse strandSYPCACNA1F: 49,205,063–49,233,371, reverse strandCCDC22: 49,235,444–49,250,526, forward strandCCDC22FOXP3: 49,250,436–49,264,800, reverse strandFOXP3: 49,258,343–49,270,477, reverse strandPPP1R3F: 49,269,771–49,301,468, forward strandPPP1R3FGAGE10: 49,303,645–49,319,844, forward strandGAGE10GAGE12J: 49,322,037–49,329,387, forward strandGAGE12JGAGE13: 49,331,575–49,338,952, forward strandGAGE13GAGE2E: 49,341,192–49,345,922, forward strandGAGE12B: 49,529,869–49,529,985, forward strandGAGE12BGAGE12C: 49,532,177–49,539,541, forward strandGAGE12CGAGE12D: 49,541,733–49,549,097, forward strandGAGE12DGAGE12E: 49,551,289–49,558,645, forward strandGAGE12EGAGE12F: 49,560,842–49,568,209, forward strandGAGE12G: 49,570,400–49,577,757, forward strandDiagram of WDR45: 11 exons on the reverse strand of chromosome XExon 11: 11 known disease-causing sitesExon 10: 15 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 20 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 11: 49,074,442–49,074,912, 471 basesExon 10: 49,075,136–49,075,281, 146 basesExon 9: 49,075,364–49,075,465, 102 basesExon 8: 49,075,545–49,075,753, 209 basesExon 7: 49,075,866–49,075,945, 80 basesExon 6: 49,076,430–49,076,524, 95 basesExon 5: 49,076,645–49,076,750, 106 basesExon 4: 49,077,643–49,077,747, 105 basesExon 3: 49,077,837–49,077,911, 75 basesExon 2: 49,078,041–49,078,112, 72 basesExon 1: 49,079,751–49,079,887, 137 bases11109876543215′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 1.6 kb of the gene's 5.4 kb; 1,083 of those bases code for the protein.

How a genome test reads WDR45

129

positions in WDR45 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 5.4 kb of WDR45, introns included, not only the 1.6 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.). WDR45 gene: WD repeat domain 45. Retrieved 17 October 2026, from https://dantelabs.com/genes/wdr45

Vancouver

Dante Labs. WDR45 gene: WD repeat domain 45 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/wdr45

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test