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
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
FOXC1 3 0 2020-07-29
TBX5 3 0 2020-07-29
COL2A1 3 0 2020-07-29
NSD1 3 0 2020-07-27
Xp21.2 region (includes NR0B1) 0 3 2020-07-22
NKX2-5 3 0 2020-07-22
SDHB 3 0 2020-07-22
ALX4 3 0 2020-07-22
ERCC3 30: Gene associated with autosomal recessive phenotype 0 2020-06-30
SATB2 3 0 2020-07-15
CDKN1B 3 0 2020-07-08
TRPS1 3 0 2020-07-08
EXT2 3 0 2020-06-23
SHH 3 0 2020-06-24
PTCH1 3 0 2020-07-01
TCF4 3 0 2020-07-08
PAX9 3 0 2020-07-08
ABCB11 30: Gene associated with autosomal recessive phenotype 0 2020-07-08
RAD51C 3 0 2020-07-08
FH 3 0 2020-07-06
NTHL1 30: Gene associated with autosomal recessive phenotype 0 2020-07-06
15q25.2q25.3 recurrent region (LCR C-D, distal) 1 0 2020-06-26
BMPR1A 3 0 2020-06-24
GATA3 3 0 2020-06-24
AUTS2 3 0 2020-06-24
PTEN 3 0 2020-06-24
ZEB2 3 0 2020-06-24

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
17q11.2 recurrent region (includes NF1) Triplosensitivity score: 3 Triplosensitivity score: 2 07/13/2020
17q21.3 recurrent region (includes KANSL1) Triplosensitivity score: 2 Triplosensitivity score: 1 07/24/2020

Gene/Region Curation Stats

Review Complete 1,485
Under Primary Review 106
Under Secondary Review 21
Under Group Review 16
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