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
ACSL4 1 0 2021-04-28
NHS 3 0 2021-04-28
AP1S2 3 0 2021-04-28
TCOF1 3 0 2021-04-28
13q12.12 recurrent region (includes SACS and SGCG) 0 40: Dosage sensitivity unlikely 2021-04-26
ANKRD26 0 0 2021-04-14
FAM175A 0 0 2021-04-14
NAA15 3 0 2021-04-13
OFD1 3 0 2021-04-13
MITF 3 0 2021-04-13
16p13.11 recurrent region (BP2-BP3) (includes MYH11) 3 2 2021-04-12
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) 3 40: Dosage sensitivity unlikely 2021-04-12
PLP1 3 3 2021-04-12
FGFR1 3 0 2021-04-05
RPS19 3 0 2021-03-24
CHM 3 0 2021-03-24
ATP7A 3 0 2021-03-24
BTK 3 0 2021-03-24
GLA 3 0 2021-03-24
TIMM8A 3 0 2021-03-24
ASTN2 1 0 2021-03-09
FOXG1 3 0 2021-03-09
RB1 3 0 2021-03-09
DLL1 3 0 2021-03-09
MECP2 3 0 2021-02-22
PHF6 3 0 2021-02-24
NR5A1 3 0 2021-02-24
GDF5 3 0 2021-02-24
Xq28 region (includes MECP2) 0 3 2021-02-22
CYLD 3 0 2021-02-10
FOXL2 3 0 2021-02-09
CUL4B 3 0 2021-02-09
LAMP2 3 0 2021-02-09
UPF3B 3 0 2021-02-09
MGP 30: Gene associated with autosomal recessive phenotype 0 2021-02-08

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
13q12.12 recurrent region (includes SACS and SGCG) Triplosensitivity score: 0 Triplosensitivity score: 40: Dosage sensitivity unlikely 04/23/2021
13q12.12 recurrent region (includes SACS and SGCG) Haploinsufficiency score: 30: Gene associated with autosomal recessive phenotype Haploinsufficiency score: 0 04/23/2021

Gene/Region Curation Stats

Review Complete 1,550
Under Primary Review 81
Under Secondary Review 19
Under Group Review 17
Awaiting Review 42,279

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