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Gene

DIAPH1

diaphanous related formin 1

Summary

Cytogenetic location
5q31.3
Coordinates
Chromosome 5: 141,515,021–141,619,000 (GRCh38)
Exons
28 exons across 104 kb
Protein
1,272 amino acids
Inheritance
Autosomal dominant
Also known as
hDIA1, LFHL1, mDia1
Previous symbols
DFNA1
MANE Select transcript
ENST00000389054.8NM_005219.5
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

  • Hearing Loss and Deafness

    • Autosomal Dominant Nonsyndromic Hearing LossAutosomal dominant

      Autosomal dominant form of nonsyndromic deafness.

      • 1 GenCC submitter rates it definitive or strong
    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

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

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

  • 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.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate 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.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How DIAPH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where DIAPH1 sits. DIAPH1 and 49 genes near it on chromosome 5, from 141,067,011 to 142,067,010.Chromosome 55q31.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3141.2 Mb141.4 Mb141.6 Mb141.8 Mb142 MbPCDHB2: 141,094,597–141,098,703, forward strandPCDHB3: 141,100,473–141,103,827, forward strandPCDHB3PCDHB4: 141,121,818–141,125,623, forward strandPCDHB4PCDHB5: 141,135,206–141,138,615, forward strandPCDHB5PCDHB6: 141,150,057–141,153,287, forward strandPCDHB6PCDHB7: 141,172,644–141,176,383, forward strandPCDHB8: 141,177,790–141,182,369, forward strandPCDHB8PCDHB16: 141,182,387–141,186,226, forward strandPCDHB9: 141,187,127–141,191,541, forward strandPCDHB10: 141,192,353–141,195,647, forward strandPCDHB11: 141,199,610–141,203,779, forward strandPCDHB12: 141,208,697–141,212,571, forward strandPCDHB13: 141,213,919–141,218,979, forward strandPCDHB13PCDHB14: 141,223,343–141,227,759, forward strandPCDHB14: 141,223,372–141,245,861, forward strandPCDHB15: 141,245,395–141,249,365, forward strandPCDHB15TAF7: 141,259,884–141,320,784, reverse strandTAF7SLC25A2: 141,302,635–141,304,049, reverse strandSLC25A2PCDHGA1: 141,330,495–141,512,977, forward strandPCDHGA2: 141,338,754–141,512,977, forward strandPCDHGA3: 141,343,819–141,512,977, forward strandPCDHGB1: 141,350,083–141,512,977, forward strandPCDHGA4: 141,355,004–141,512,977, forward strandPCDHGB2: 141,359,971–141,512,977, forward strandPCDHGA5: 141,364,162–141,512,977, forward strandPCDHGB3: 141,370,237–141,512,977, forward strandPCDHGA6: 141,373,878–141,512,977, forward strandPCDHGA7: 141,382,702–141,512,977, forward strandPCDHGB4: 141,387,698–141,512,977, forward strandPCDHGA8: 141,390,157–141,512,977, forward strandPCDHGB5: 141,397,942–141,512,977, forward strandPCDHGA9: 141,402,765–141,512,977, forward strandPCDHGB6: 141,407,989–141,512,977, forward strandPCDHGA10: 141,412,981–141,512,977, forward strandPCDHGB7: 141,417,642–141,512,977, forward strandPCDHGA11: 141,421,021–141,512,977, forward strandPCDHGA12: 141,430,507–141,512,977, forward strandPCDHGC3: 141,475,929–141,512,977, forward strandPCDHGC3PCDHGC4: 141,484,997–141,512,977, forward strandPCDHGC4PCDHGC5: 141,489,067–141,512,977, forward strandPCDHGC5DIAPH1: 141,515,021–141,619,000, reverse strandDIAPH1HDAC3: 141,620,766–141,637,304, reverse strandHDAC3RELL2: 141,636,950–141,641,065, forward strandRELL2FCHSD1: 141,639,296–141,651,430, reverse strandFCHSD1ARAP3: 141,653,204–141,682,255, reverse strandARAP3PCDH1: 141,853,090–141,879,246, reverse strandPCDH1DELE1: 141,923,800–141,952,031, forward strandDELE1PCDH12: 141,943,581–141,969,741, reverse strandPCDH12RNF14: 141,958,305–142,003,016, forward strandRNF14GNPDA1: 141,991,749–142,013,061, reverse strandGNPDA1Diagram of DIAPH1: 28 exons on the reverse strand of chromosome 5Exon 27: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 16: 4 known disease-causing sitesExon 15: 4 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 4 known disease-causing sitesExon 28: 141,515,021–141,517,008, 1,988 basesExon 27: 141,524,143–141,524,229, 87 basesExon 26: 141,526,038–141,526,173, 136 basesExon 25: 141,526,297–141,526,461, 165 basesExon 24: 141,527,573–141,527,697, 125 basesExon 23: 141,528,453–141,528,582, 130 basesExon 22: 141,528,702–141,528,941, 240 basesExon 21: 141,529,172–141,529,273, 102 basesExon 20: 141,529,603–141,529,697, 95 basesExon 19: 141,534,335–141,534,433, 99 basesExon 18: 141,571,428–141,571,436, 9 basesExon 17: 141,571,926–141,572,040, 115 basesExon 16: 141,573,492–141,574,208, 717 basesExon 15: 141,574,967–141,575,146, 180 basesExon 14: 141,576,230–141,576,294, 65 basesExon 13: 141,576,756–141,576,871, 116 basesExon 12: 141,577,475–141,577,591, 117 basesExon 11: 141,578,225–141,578,343, 119 basesExon 10: 141,578,515–141,578,625, 111 basesExon 9: 141,579,088–141,579,196, 109 basesExon 8: 141,580,744–141,580,883, 140 basesExon 7: 141,582,312–141,582,375, 64 basesExon 6: 141,583,206–141,583,292, 87 basesExon 5: 141,583,485–141,583,615, 131 basesExon 4: 141,584,124–141,584,225, 102 basesExon 3: 141,587,042–141,587,197, 156 basesExon 2: 141,588,224–141,588,250, 27 basesExon 1: 141,618,798–141,619,000, 203 bases2825201510515′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 5.7 kb of the gene's 104 kb; 3,819 of those bases code for the protein.

How a genome test reads DIAPH1

45

positions in DIAPH1 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 104 kb of DIAPH1, introns included, not only the 5.7 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.). DIAPH1 gene: diaphanous related formin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/diaph1

Vancouver

Dante Labs. DIAPH1 gene: diaphanous related formin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/diaph1

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