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.

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
TSC1 3 0 2020-10-13
1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38) 40: Dosage sensitivity unlikely 40: Dosage sensitivity unlikely 2020-10-22
JAG1 3 0 2020-10-19
LEMD3 3 0 2020-10-19
GATA1 0 0 2020-10-14
DIS3L2 1 0 2020-10-14
DNAJC21 1 0 2020-10-14
F8 3 0 2020-10-13
KCNQ1 3 0 2020-10-13
PAFAH1B1 3 0 2020-10-13
RAI1 3 0 2020-10-13
17q11.2 recurrent region (includes NF1) 3 2 2020-10-12
CDKN1C 3 0 2020-09-25
SIX3 3 0 2020-09-23
HOXD13 3 0 2020-09-23
TBX3 3 0 2020-09-23
NF2 3 0 2020-09-08
PTPN11 3 0 2020-09-08
OTX2 3 0 2020-09-08
COL4A5 3 0 2020-09-08
CDK4 0 0 2020-09-02
FAH 30: Gene associated with autosomal recessive phenotype 0 2020-09-02
UBE2T 30: Gene associated with autosomal recessive phenotype 0 2020-09-01
NIPBL 3 1 2020-08-26
RET 3 0 2020-08-26
BMPR2 3 0 2020-08-26
PHF8 3 0 2020-08-26
EYA1 3 0 2020-08-25
NBN 3 0 2020-08-21
GREM1 0 0 2020-08-20
17q21.3 recurrent region (includes KANSL1) 3 1 2020-08-10

Genes/Regions with Updated Scores

No scores were updated in the last 13 weeks

Gene/Region Curation Stats

Review Complete 1,488
Under Primary Review 103
Under Secondary Review 20
Under Group Review 18
Awaiting Review 42,316

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