Genetic Disorders We Study

The genetic disorders we study are listed below. You’ll also find more information and resources about these 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 disorders on our list. More information about each gene or copy number variant, along with its associated symptoms, is available in “Genetics” section of MedlinePlus.

Download a copy of the Simons Searchlight Gene List.

Search Genes

Keyword

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CNVs
A - C
D - F
G - I
J - L
M - O
P - R
S - U
V - Z

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Copy Number Variants (CNVs)

1q21.1 Deletion 1q21.1 Duplication 2p16.3 Deletion 2q34 Duplication 2q37 Deletion 2q37.3 Deletion 5p Deletion 5q35 Deletion 5q35 Duplication 6q16 Deletion 7q11.23 Duplication 9q34 Duplication 15q11.2 BP1-BP2 Deletion 15q13.3 Deletion 15q15 Deletion 15q24 Deletion 16p11.2 Deletion 16p11.2 Deletion (Distal) 16p11.2 Duplication 16p11.2 Duplication (Distal) 16p11.2 Triplication 16p12.2 Deletion 16p13.11 Deletion 16p13.3 Deletion 17p13.3 Deletion 17p13.3 Duplication 17q11.2 Duplication 17q12 Deletion 17q12 Duplication 17q21.31 Deletion 17q21.31 Duplication Xp11.22 Duplication Xq28 Duplication

A - C

ACTB ACTL6B ADNP ADSL AFF2 AHDC1 ALDH5A1 ANK2 ANK3 ANKRD11 ARHGEF9 ARID1B ARX ASH1L ASXL3 ATRX AUTS2 BCKDK BCL11A BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHAMP1 CHD2 CHD3 CHD8 CIC CLCN4 CNOT3 CREBBP CSDE1 CSNK2A1 CSNK2B CTBP1 CTCF CTNNB1 CUL3

D - F

DDX3X DEAF1 DHCR7 DLG4 DNMT3A DSCAM DYNC1H1 DYRK1A EBF3 EHMT1 EIF3F EP300 FOXP1

G - I

GIGYF1 GNB1 GRIA1 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D HECW2 HIVEP2 HNRNPC HNRNPD HNRNPH2 HNRNPK HNRNPR HNRNPU HNRNPUL2 IQSEC2 IRF2BPL

J - L

JARID2 KANSL1 KATNAL2 KCNB1 KDM3B KDM5B KDM6B KMT2A KMT2C KMT2E KMT5B

M - O

MAOA MAOB MBD5 MBOAT7 MED12 MED13 MED13L MEF2C MEIS2 MYT1L NAA15 NBEA NCKAP1 NEXMIF NIPBL NLGN2 NLGN3 NLGN4X NR3C2 NR4A2 NRXN1 NRXN2 NSD1

P - R

PACS1 PACS2 PHF3 PHF21A PHIP POMGNT1 PPP1R9A PPP2CA PPP2R1A PPP2R5C PPP2R5D PPP3CA PSMD12 PTCHD1 RALGAPB RELN RERE REST RFX3 RIMS1 RORB

S - U

SCN1A SCN1B SCN2A SETBP1 SETD2 SETD5 SHANK2 SIN3A SLC6A1 SLC9A6 SMARCA4 SMARCC2 SON SOX5 SPAST SRCAP STXBP1 SYNCRIP SYNGAP1 TANC2 TAOK1 TBR1 TCF7L2 TCF20 TLK2 TRIO TRIP12 UPF3B USP9X

V - Z

VPS13B WAC WDFY3 YY1 ZBTB20 ZNF292 ZNF462

Why do we pick these genes?

Simons Searchlight studies rare genetic neurodevelopmental disorders. We are committed to learning as much as we can about these genetic contributions to these conditions. We know that you may have many questions as you learn about your and your child’s genetic diagnosis.

The list of genes that Simons Searchlight studies changes over time. We continue to add or subtract genes as new information is learned about genes that are associated with neurodevelopmental disorders, including autism spectrum disorder. This list is influenced by new research and publications and is coordinated with the SPARK gene list. The genes that Simons Searchlight studies are determined by a team of geneticists, genetic counselors, medical professionals, and leading researchers.

Reliable information about what some genetic variants mean isn’t always available. With your help, we will be able to provide more information in the future to people with a genetic variant in the genes listed above.

If your or your child’s gene or CNV is not on our list, please fill out our Gene List Addition Request Form, to be considered by our genetics committee.