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.

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)
  1. example: chr2:44,000,000-45,500,000, 2p21-2p16.2

  2. Filling out this entry will lead to submission failure.

Genes/Regions Recently Reviewed

Gene/Region name Haploinsufficiency score Triplosensitivity score Date reviewed
SHANK3 3 0 2018-08-14
CAMK2A 3 0 2018-09-26
ARID2 3 0 2018-09-26
SYP 1 0 2018-09-26
SYN1 2 0 2018-09-26
CLCN4 2 0 2018-09-26
GDI1 2 0 2018-09-26
MED12 0 0 2018-08-22
TSPAN7 2 0 2018-08-22
HUWE1 0 0 2018-09-26
GRIA3 3 0 2018-09-26
FOLR1 30: Gene associated with autosomal recessive phenotype 0 2018-08-22
ZNF462 2 0 2018-07-26
TCF20 3 0 2018-07-25
SLC6A1 3 0 2018-07-25
RPH3A 1 0 2018-07-25
RB1CC1 1 0 2018-07-25
KIAA2022 3 0 2018-08-22
LMTK3 1 0 2018-07-25
15q24 recurrent region (A-D) (includes SIN3A) 3 1 2018-08-31
17q23.1q23.2 recurrent region (includes TBX2, TBX4) 3 2 2018-09-28
Xp11.22 region (includes HUWE1) 0 3 2018-09-26
TARDBP 0 0 2018-09-25
NR3C2 3 0 2018-09-25
ROBO1 0 0 2018-09-25
TLX3 0 0 2018-09-25
GABRG2 1 0 2018-09-25
SHOC2 0 0 2018-09-25
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) 3 3 2018-08-31
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) 3 3 2018-08-31
NTAN1 0 0 2018-09-17
NEFL 0 0 2018-09-17
ATP2C2 0 0 2018-09-17
RAF1 0 0 2018-09-13
STS 3 0 2018-09-13
DCHS1 1 0 2018-08-31
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) 3 3 2018-08-30
CHD1L 0 0 2018-08-30
TRIP4 30: Gene associated with autosomal recessive phenotype 0 2018-08-16
MEFV 0 0 2018-08-16
TBX2 1 0 2018-08-08

Genes/Regions with Updated Scores

No scores were updated in the last 13 weeks

Gene/Region Curation Stats

Review Complete 1,440
Under Primary Review 68
Under Secondary Review 22
Under Group Review 12
Awaiting Review 42,401

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