Genetic Changes We Study

The genetic changes we are studying are listed below. You’ll also find more information and resources about the conditions.

Click on a gene name and you will be directed to a page with information about that gene. Some genes have more information than others.

We are working on updating information for newly added genetic changes on our list. More information about each gene or CNV, along with its associated symptoms, is available at GeneNames.org or Genetics Home Reference.

Download a copy of this list here.

1q21.1 Deletion
1q21.1 Duplication
2p16.3 Deletion
2q34 Duplication
2q37 Deletion
3q29 Deletion
3q29 Duplication
5p Deletion
5q35 Deletion
5q35 Duplication
6q16 Deletion
7q11.23 Deletion
7q11.23 Duplication
8p23.1 Deletion
8p23.1 Duplication
9q34 Duplication
15q11.2-q13.1 Deletion
15q11.2-q13.1 Duplication
15q13.3 Deletion
15q15 Deletion
15q24 Deletion
16p11.2 Deletion
16p11.2 Duplication
16p11.2 Triplication
16p12.2 Deletion
16p13.11 Deletion
16p13.3 Deletion
17p11.2 Deletion
17p11.2 Duplication
17q11.2 Deletion
17q11.2 Duplication
17q12 Deletion
17q12 Duplication
17q21.3 Deletion
17q21.3 Duplication
22q11.2 Deletion
22q11.2 Duplication
22q13.3 Deletion
ACTB
ACTL6B
ADNP
ADSL
AFF2
AHDC1
ALDH5A1
ANK2
ANK3
ANKRD11
ARHGEF9
ARID1B
ARX
ASH1L
ASXL3
ATRX
AUTS2
BAZ2B
BCKDK
BCL11A
BRAF
BRSK2
CACNA1C
CAPRIN1
CASK
CASZ1
CDKL5
CHAMP1
CHD2
CHD3
CHD7
CHD8
CIC
CNOT3
CREBBP
CSDE1
CSNK2A1
CTBP1
CTCF
CTNNB1
CUL3
DDX3X
DEAF1
DHCR7
DLG4
DMPK
DNMT3A
DSCAM
DST
DYRK1A
EBF3
EHMT1
EIF3F
EP300
FMR1
FOXG1
FOXP1
GIGYF1
GIGYF2
GRIN1
GRIN2A
GRIN2B
GRIN2D
HIVEP2
HNRNPH2
HNRNPU
HRAS
IQSEC2
IRF2BPL
KANSL1
KAT6A
KATNAL2
KCNB1
KCNQ2
KCNQ3
KDM3B
KDM5B
KDM6B
KMT2A
KMT2C
KMT2E
KMT5B
KRAS
LZTR1
MAGEL2
MAP2K1
MAP2K2
MBD5
MBOAT7
MECP2
MED13
MED13L
MEIS2
MYT1L
NAA15
NBEA
NCKAP1
NEXMIF
NF1
NIPBL
NLGN2
NLGN3
NLGN4X
NRAS
NR3C2
NR4A2
NRXN1
NRXN2
NRXN3
NSD1
PACS1
PBRM1
PCDH19
PHF21A
PHF3
PHIP
POGZ
POMGNT1
PPP1CB
PPP3CA (PPP2B)
PPP2R1A
PPP2R5D
PSMD12
PTCHD1
PTPN11
PTEN
PURA
RAF1
RAI1
RELN
RERE
REST
RFX3
RIMS1
RIT1
RORB
SCN1A
SCN2A
SCN8A
SETBP1
SETD2
SETD5
SHANK2
SHANK3
SHOC2
SIN3A
SLC6A1
SLC9A6 (NHE6)
SMARCA4
SMARCC1
SMARCC2
SON
SOS1
SOS2
SOX5
SPAST
SRCAP
STXBP1
SYNCRIP
SYNGAP1
TAOK1
TANC2
TBCK
TBR1
TCF20
TCF4
TLK2
TRIO
TRIP12
TSC1
TSC2
TSHZ3
UBE3A
UPF3B
USP9X
VPS13B
WAC
WDFY3
ZBTB20
ZNF292
ZNF462

Why do we pick these genes?

The Simons Searchlight team is studying genetic changes that have been associated with autism and neurodevelopmental disorders. We are committed to learning as much as we can about the genetics of developmental delay and autism. We know that families have many questions as they learn about their child’s genetic diagnosis.

Reliable information about genetic changes found during testing isn’t always available for families. With your help, we will be able to provide more information in the future to families who receive a diagnosis of a change in the genes listed above.