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
MECP2 3 0 2021-02-22
SALL1 1 0 2021-01-27
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
F9 3 0 2021-01-12
GLI3 3 0 2021-01-12
UNC93A 40: Dosage sensitivity unlikely 0 2021-02-03
TPSD1 40: Dosage sensitivity unlikely 0 2021-02-03
TIGD6 40: Dosage sensitivity unlikely 0 2021-02-03
TEX26 40: Dosage sensitivity unlikely 0 2021-02-03
SPERT 40: Dosage sensitivity unlikely 0 2021-02-03
SLC6A18 40: Dosage sensitivity unlikely 0 2021-02-02
SLC22A14 40: Dosage sensitivity unlikely 0 2021-02-02
SIGLEC5 40: Dosage sensitivity unlikely 0 2021-02-02
SEC14L4 40: Dosage sensitivity unlikely 0 2021-02-02
SDR42E1 40: Dosage sensitivity unlikely 0 2021-02-02
RNF32 40: Dosage sensitivity unlikely 0 2021-02-02
RABL2A 40: Dosage sensitivity unlikely 0 2021-02-02
PSORS1C2 40: Dosage sensitivity unlikely 0 2021-02-02
PCDHGA8 40: Dosage sensitivity unlikely 0 2021-02-02
NUDT13 40: Dosage sensitivity unlikely 0 2021-02-02
KRT37 40: Dosage sensitivity unlikely 0 2021-02-02
KRT24 40: Dosage sensitivity unlikely 0 2021-02-02
KLK12 40: Dosage sensitivity unlikely 0 2021-02-02
HTN3 40: Dosage sensitivity unlikely 0 2021-02-02
HSD17B13 40: Dosage sensitivity unlikely 0 2021-02-02
GUCA1C 40: Dosage sensitivity unlikely 0 2021-02-02
GRIN3B 40: Dosage sensitivity unlikely 0 2021-02-02
GEN1 40: Dosage sensitivity unlikely 0 2021-02-02
GAB4 40: Dosage sensitivity unlikely 0 2021-02-02
FMO2 40: Dosage sensitivity unlikely 0 2021-02-02
EXO5 40: Dosage sensitivity unlikely 0 2021-02-02
EFCAB13 40: Dosage sensitivity unlikely 0 2021-02-02
DNAJC28 40: Dosage sensitivity unlikely 0 2021-02-02
CYP3A43 40: Dosage sensitivity unlikely 0 2021-02-02
COL6A5 40: Dosage sensitivity unlikely 0 2021-02-02
COL16A1 40: Dosage sensitivity unlikely 0 2021-02-01
BPHL 40: Dosage sensitivity unlikely 0 2021-02-02
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
AVPR2 3 0 2021-02-01
GPC3 3 0 2021-01-27
SH2D1A 3 0 2021-01-27
GAGE2B Not yet evaluated Not yet evaluated 2021-01-18
GAGE2C Not yet evaluated Not yet evaluated 2021-01-18
TWIST1 3 0 2020-12-16
HPRT1 3 0 2021-01-13
GNAS 3 0 2021-01-12
OCRL 3 0 2021-01-12
NOG 3 0 2021-01-12
MSX1 3 0 2021-01-12
CNKSR2 3 0 2021-01-12
MTM1 3 0 2021-01-11
SRY 3 0 2020-12-22
SALL4 3 0 2021-01-11
GLI2 3 0 2021-01-11
HNF1B 3 0 2020-12-21
SMAD4 3 0 2020-12-16
FMR1 3 0 2020-12-16
DYRK1A 3 0 2020-12-16
AFF2 3 0 2020-12-08
SLC9A6 3 0 2020-12-08
AR 3 0 2020-12-08
FLNA 3 0 2020-12-02
ZIC3 3 0 2020-12-02
ABCD1 3 0 2020-12-02
L1CAM 3 0 2020-12-02

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
MECP2 Triplosensitivity score: 3 Triplosensitivity score: 0 01/25/2021
SALL1 Haploinsufficiency score: 3 Haploinsufficiency score: 1 01/26/2021

Gene/Region Curation Stats

Review Complete 1,547
Under Primary Review 82
Under Secondary Review 19
Under Group Review 17
Awaiting Review 42,281

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