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
GAGE2B Not yet evaluated Not yet evaluated 2021-01-18
GAGE2C Not yet evaluated Not yet evaluated 2021-01-18
GAGE12I Not yet evaluated Not yet evaluated 2021-01-18
MIR4420 Not yet evaluated Not yet evaluated 2021-01-18
MIR4423 Not yet evaluated Not yet evaluated 2021-01-18
MIR4425 Not yet evaluated Not yet evaluated 2021-01-18
MIR4424 Not yet evaluated Not yet evaluated 2021-01-18
PTENP1-AS Not yet evaluated Not yet evaluated 2021-01-18
FLNB-AS1 Not yet evaluated Not yet evaluated 2021-01-18
HIF1A-AS2 Not yet evaluated Not yet evaluated 2021-01-18
MIR5047 Not yet evaluated Not yet evaluated 2021-01-18
LOC101929172 Not yet evaluated Not yet evaluated 2021-01-18
MIR5589 Not yet evaluated Not yet evaluated 2021-01-18
LINC00554 Not yet evaluated Not yet evaluated 2021-01-18
LOC102724484 Not yet evaluated Not yet evaluated 2021-01-18
MEIS1-AS2 Not yet evaluated Not yet evaluated 2021-01-18
NCK1-AS1 Not yet evaluated Not yet evaluated 2021-01-18
LINC01273 Not yet evaluated Not yet evaluated 2021-01-18
CCDC179 Not yet evaluated Not yet evaluated 2021-01-18
FIGNL2 Not yet evaluated Not yet evaluated 2021-01-18
MIR8055 Not yet evaluated Not yet evaluated 2021-01-18
MIR412 Not yet evaluated Not yet evaluated 2021-01-18
MIR631 Not yet evaluated Not yet evaluated 2021-01-18
MIR7154 Not yet evaluated Not yet evaluated 2021-01-18
LOC105378068 Not yet evaluated Not yet evaluated 2021-01-18
FGF14-AS1 Not yet evaluated Not yet evaluated 2021-01-18
MIR7849 Not yet evaluated Not yet evaluated 2021-01-18
MIR7848 Not yet evaluated Not yet evaluated 2021-01-18
TGFB2-OT1 Not yet evaluated Not yet evaluated 2021-01-18
MIR1307 Not yet evaluated Not yet evaluated 2021-01-18
DIAPH3-AS2 Not yet evaluated Not yet evaluated 2021-01-18
LOC102724301 Not yet evaluated Not yet evaluated 2021-01-18
TRBV6-4 Not yet evaluated Not yet evaluated 2021-01-18
RAB30-AS1 Not yet evaluated Not yet evaluated 2021-01-18
MIR4251 Not yet evaluated Not yet evaluated 2021-01-18
TRAV6 Not yet evaluated Not yet evaluated 2021-01-18
CCDC37-AS1 Not yet evaluated Not yet evaluated 2021-01-18
SNORD114-14 Not yet evaluated Not yet evaluated 2021-01-18
MIR1251 Not yet evaluated Not yet evaluated 2021-01-18
CASC8 Not yet evaluated Not yet evaluated 2021-01-18
CASC17 Not yet evaluated Not yet evaluated 2021-01-18
LINC01043 Not yet evaluated Not yet evaluated 2021-01-18
RERG-AS1 Not yet evaluated Not yet evaluated 2021-01-18
LINC01047 Not yet evaluated Not yet evaluated 2021-01-18
LINC01044 Not yet evaluated Not yet evaluated 2021-01-18
LINC01046 Not yet evaluated Not yet evaluated 2021-01-18
LOC100506123 Not yet evaluated Not yet evaluated 2021-01-18
HLA-DRB1 Not yet evaluated Not yet evaluated 2021-01-18
TWIST1 3 0 2020-12-16
CHM 3 0 2021-01-13
HPRT1 3 0 2021-01-13
GNAS 3 0 2021-01-12
OCRL 3 0 2021-01-12
NOG 3 0 2021-01-12
MSX1 3 0 2021-01-12
CNKSR2 3 0 2021-01-12
GLI3 3 0 2021-01-12
F9 3 0 2021-01-12
MTM1 3 0 2021-01-11
SRY 3 0 2020-12-22
SALL4 3 0 2021-01-11
GLI2 3 0 2021-01-11
HNF1B 3 0 2020-12-21
SMAD4 3 0 2020-12-16
FMR1 3 0 2020-12-16
DYRK1A 3 0 2020-12-16
AFF2 3 0 2020-12-08
SLC9A6 3 0 2020-12-08
AR 3 0 2020-12-08
FLNA 3 0 2020-12-02
ZIC3 3 0 2020-12-02
ABCD1 3 0 2020-12-02
L1CAM 3 0 2020-12-02
FANCG 30: Gene associated with autosomal recessive phenotype 0 2020-11-15
IKBKG 3 0 2020-11-10
SLC6A8 3 0 2020-11-10
IDS 3 0 2020-11-10
LMX1B 3 0 2020-11-10

Genes/Regions with Updated Scores

No scores were updated in the last 13 weeks

Gene/Region Curation Stats

Review Complete 1,553
Under Primary Review 92
Under Secondary Review 20
Under Group Review 12
Awaiting Review 42,268

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