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.

NOTICE: On or about January 1st, 2022, all Dosage Sensitivity Map requests will be redirected to the equivalent pages at www.clinicalgenome.org as described above.

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
CCNQ 2 0 2021-12-01
FGF12 0 1 2021-12-01
TUSC3 30: Gene associated with autosomal recessive phenotype Not yet evaluated 2021-12-01
ARHGEF9 3 0 2021-11-24
SGCE 3 0 2021-11-11
STK11 3 0 2021-11-10
CHEK1 0 0 2021-11-10
TP53 3 0 2021-11-10
GABRA1 1 0 2021-11-09
SYNGAP1 3 0 2021-11-09
PIGA 2 0 2021-11-09
EMX2 1 0 2021-11-09
BMP4 2 0 2021-11-09
PAX8 1 0 2021-11-09
LDLR 3 0 2021-10-27
SPINK1 3 0 2021-10-25
ZNF592 0 0 2021-10-14
MSH2 3 0 2021-10-13
MLH1 3 0 2021-10-13
SDHC 3 0 2021-10-13
MSH6 3 0 2021-10-13
DSP 3 0 2021-10-12
ZDHHC9 3 0 2021-10-12
CTNND2 1 0 2021-10-12
BRCA1 3 0 2021-09-23
CTCF 3 0 2021-09-22
MAGT1 3 0 2021-09-22
RNF135 0 0 2021-09-22
CFC1 0 0 2021-09-22
ZFPM2 1 0 2021-09-20
HMGA2 1 0 2021-09-14
MEIS2 3 0 2021-09-14

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
MAGT1 Haploinsufficiency score: 1 Haploinsufficiency score: 3 09/22/2021
ZNF592 Haploinsufficiency score: 30: Gene associated with autosomal recessive phenotype Haploinsufficiency score: Not yet evaluated 09/29/2021
PAX8 Haploinsufficiency score: 2 Haploinsufficiency score: 1 09/13/2021
MEIS2 Haploinsufficiency score: 2 Haploinsufficiency score: 3 09/03/2021
RNF135 Haploinsufficiency score: 2 Haploinsufficiency score: 0 09/21/2021
GABRA1 Haploinsufficiency score: 2 Haploinsufficiency score: 1 11/03/2021
ARHGEF9 Haploinsufficiency score: 2 Haploinsufficiency score: 3 10/16/2021
DSP Haploinsufficiency score: 1 Haploinsufficiency score: 3 09/13/2021
CTNND2 Haploinsufficiency score: 2 Haploinsufficiency score: 1 10/12/2021
HMGA2 Haploinsufficiency score: 3 Haploinsufficiency score: 1 09/14/2021

Gene/Region Curation Stats

Review Complete 1,989
Under Primary Review 75
Under Secondary Review 15
Under Group Review 25
Awaiting Review 42,277

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