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
RAB39B 3 0 2020-05-29
ARID1A 3 0 2020-05-27
CYBB 3 0 2020-05-27
PAX3 3 0 2020-05-27
TAB2 1 0 2020-05-27
PHF21A 2 0 2020-05-27
MSH3 30: Gene associated with autosomal recessive phenotype 0 2020-05-08
NR0B1 3 0 2020-05-05
BARD1 3 0 2020-05-01
G6PC3 30: Gene associated with autosomal recessive phenotype 0 2020-04-30
CDH1 3 0 2020-04-10
SMARCB1 3 0 2020-04-22
XIST 3 0 2020-04-22
SMAD3 3 0 2020-04-22
ZC4H2 3 0 2020-04-22
SCN2A 3 0 2020-04-22
RASA1 3 0 2020-04-22
CRKL 1 0 2020-04-13
CASP10 1 0 2020-04-10
APOB 3 0 2020-04-09
PQBP1 3 0 2020-04-09
FRMD7 3 0 2020-04-09
CD40LG 3 0 2020-04-08
ATM 3 0 2020-04-08
IQSEC2 3 0 2020-04-07
NR3C2 3 0 2020-04-06
CHAMP1 2 0 2020-03-25
2q11.2 recurrent region (includes ARID5A, LMAN2L) 1 1 2020-02-28
15q13 recurrent region (BP3-BP4) (includes APBA2) 0 0 2020-03-09

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
13q12.12 recurrent region (includes SACS and SGCG) Haploinsufficiency score: 30: Gene associated with autosomal recessive phenotype Haploinsufficiency score: 0 02/28/2020
2q11.2 recurrent region (includes ARID5A, LMAN2L) Haploinsufficiency score: 2 Haploinsufficiency score: 1 02/28/2020

Gene/Region Curation Stats

Review Complete 1,490
Under Primary Review 100
Under Secondary Review 20
Under Group Review 16
Awaiting Review 42,318

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