ClinGen Dosage Sensitivity Map

The Clinical Genome Resource (ClinGen) consortium is curating genes and regions of the genome to assess whether there is evidence to support that these genes/regions are dosage sensitive and should be targeted on a cytogenomic array.

All data are shown in GRCh37 and GRCh38 coordinates.

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

Provide Feedback ClinGen is seeking the genetics and broader medical community's valuable feedback on our work, tools, and resources, our 10 min survey is open to ClinGen contributors, users of ClinGen resources and those new to our work - we look forward to your input.

Search By Gene Name

  1. Or click on the following examples: ZEB2, PTEN, MAPT
  2. Filling out this entry will lead to submission failure.
Search By Location (GRCh37, GRCh38)
  1. Examples: chr2:44,000,000-45,500,000, 2p21-2p16.2



Genes/Regions Recently Reviewed

Gene/Region name Haploinsufficiency score Triplosensitivity score Date reviewed
MAX 3 0 2021-07-20
3q24 Region (includes ZIC1) 3 0 2021-07-19
ZIC1 0 0 2021-07-19
APC 3 0 2021-07-18
BRCA2 3 0 2021-07-14
SH2B1 1 0 2021-07-13
TMEM127 3 0 2021-07-13
FLNC 3 0 2021-07-13
Xp22.31 recurrent region (includes STS) 3 40: Dosage sensitivity unlikely 2021-07-01
POLR1D 3 0 2021-06-23
FANCB 3 0 2021-06-23
NR4A2 1 0 2021-05-11
NRXN1 3 0 2021-06-08
ERF 3 0 2021-06-08
SCN5A 3 0 2021-06-08
SOX9 upstream enhancer region 3 1 2021-06-07
PGK1 2 0 2021-05-26
FGD1 3 0 2021-05-26
ANOS1 3 0 2021-05-26
ARID1B 3 0 2021-05-26
PPP2R5D 1 0 2021-05-26

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
SCN5A Haploinsufficiency score: 2 Haploinsufficiency score: 3 06/08/2021
ERF Haploinsufficiency score: 2 Haploinsufficiency score: 3 06/07/2021
POLR1D Haploinsufficiency score: 2 Haploinsufficiency score: 3 06/23/2021

Gene/Region Curation Stats

Review Complete 1,543
Under Primary Review 79
Under Secondary Review 18
Under Group Review 32
Awaiting Review 42,523

Curation Team

  • Joo Wook Ahn
  • Erica Andersen
  • Swaroop Aradhya
  • Tracy Brandt
  • Rachel Burnside
  • Oscar Cano
  • Yang Cao
  • Laura Conlin
  • John Herriges
  • Ted Higginbotham
  • Benjamin Hilton
  • Vaidehi Jobanputra
  • Sibel Kantarci
  • Hutton Kearney
  • Wahab Khan
  • Kristy Lee
  • Guang Li
  • Cindy Lorentz
  • Christa Martin
  • Con Ngo
  • Karen Ouyang
  • Daniel Pineda-Alvarez
  • Prabakaran Paulraj
  • Erin Rooney Riggs
  • Hiba Risheg
  • Deborah Ritter
  • Ross Rowsey
  • Yiping Shen
  • Marsha Speevak
  • Meng Su
  • Erik Thorland
  • Lei Zhang

Past Contributors

  • Erin Baldwin
  • Damien Bruno
  • Trent Burgess
  • Colleen Carlston
  • Bo Hong
  • Vanessa Horner
  • Erin Baldwin Kaminsky
  • Una Maye
  • Dominic McMullan
  • Moises Serrano
  • Sarah South
  • Jim Stavropoulos
  • Karen Wain
  • Eli Williams