top-banner
GLOSSARY

All you need to know about genes, syndromes and panels

Syndromes/Panels
Genes
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

RHD

Syndromes/panels

DUOX2

Syndromes/panels

FAH

Syndromes/panels

GALT

Syndromes/panels

IVD

Syndromes/panels

PAH

Syndromes/panels

TSHR

Syndromes/panels

LungCancerFusionGenePanel:CCDC6-RET

Syndromes/panels

CD74-NRG1

Syndromes/panels

CD74-NTRK1

Syndromes/panels

CD74-ROS1

Syndromes/panels

CRTC1-MAML2

Syndromes/panels

CUX1-RET

Syndromes/panels

EML4-ALK

Syndromes/panels

EZR-ROS1

Syndromes/panels

FGFR3-TACC3

Syndromes/panels

GOPC-ROS1

Syndromes/panels

KIF5B-ALK

Syndromes/panels

KIF5B-RET

Syndromes/panels

KLC1-ALK

Syndromes/panels

LRIG3-ROS1

Syndromes/panels

MPRIP-NTRK1

Syndromes/panels

NCOA4-RET

Syndromes/panels

SDC4-ROS1

Syndromes/panels

SLC34A2-ROS1

Syndromes/panels

STRN-ALK

Syndromes/panels

TFG-ALK

Syndromes/panels

TPM3-ROS1

Syndromes/panels

TRIM33-RET;Non-SmallCellLungCarcinomaGenePanel:ALK

Syndromes/panels

ROS1;Non-SmallCellLungCarcinomaFusionGenePanel:BAG4-FGFR1

Syndromes/panels

CCDC6-RET

Syndromes/panels

HIP1-ALK

Syndromes/panels

TPR-ALK

Syndromes/panels

TRIM33-RET;Non-SmallCellLungCarcinomaTargetedPanel:BRAF

Syndromes/panels

NTRK1/2/3fusion

Syndromes/panels

SarcomaFusionGenePanel:NTRK3-ETV6

Syndromes/panels

EWSR1-NR4A3

Syndromes/panels

EWSR1-PBX1

Syndromes/panels

EWSR1-ZNF384

Syndromes/panels

EWSR1-ATF1

Syndromes/panels

EWSR1-PATZ1

Syndromes/panels

EWSR1-DDIT3

Syndromes/panels

EWSR1-SP3

Syndromes/panels

EWSR1-FEV

Syndromes/panels

EWSR1-CREB1

Syndromes/panels

EWSR1-FLI1

Syndromes/panels

EWSR1-ETV4

Syndromes/panels

EWSR1-ETV1

Syndromes/panels

EWSR1-ERG

Syndromes/panels

YY1-EWSR1

Syndromes/panels

EWSR1-ZNF444

Syndromes/panels

EWSR1-SMARCA5

Syndromes/panels

NFATC2-EWSR1

Syndromes/panels

SS18-SSX1

Syndromes/panels

SS18-SSX4

Syndromes/panels

FUS-CREB3L2

Syndromes/panels

FUS-CREB3L1

Syndromes/panels

FUS-DDIT3

Syndromes/panels

FUS-ERG

Syndromes/panels

FUS-ATF1

Syndromes/panels

FUS-FEV;SalivaryGlandSarcomaFusionGenePanel:CRTC1-MAML2

Syndromes/panels

ETV6-NTRK3

Syndromes/panels

FGFR1-PLAG1;SoftTissueSarcomaFusionGenePanel:ASPSCR1-TFE3

Syndromes/panels

ATIC-ALK

Syndromes/panels

CARS-ALK

Syndromes/panels

CLTC-ALK

Syndromes/panels

COL1A1-PDGFB

Syndromes/panels

DCTN1-ALK

Syndromes/panels

EWSR1-WT1

Syndromes/panels

FN1-ALK

Syndromes/panels

PAX3-FOXO1

Syndromes/panels

PAX7-FOXO1

Syndromes/panels

PPFIBP1-ALK

Syndromes/panels

RANBP2-ALK

Syndromes/panels

SEC31A-ALK

Syndromes/panels

SS18-SSX2

Syndromes/panels

TPM3-ALK

Syndromes/panels

TPM4-ALK

Syndromes/panels

CDK12

Syndromes/panels

CHEK1

Syndromes/panels

FANCA

Syndromes/panels

FANCL

Syndromes/panels

FOXA1

Syndromes/panels

IDH1

Syndromes/panels

MYC

Syndromes/panels

NCOR1

Syndromes/panels

RAD51B

Syndromes/panels

RAD51D

Syndromes/panels

SPOP

Syndromes/panels

TP53;FusionGenes:ESRP1-RAF1

Syndromes/panels

RAF1-ESRP1

Syndromes/panels

SLC45A3-BRAF

Syndromes/panels

TMPRSS2-ERG

Syndromes/panels

UBE2L3-KRAS

Syndromes/panels

ALK

Syndromes/panels

FANCG

Syndromes/panels

GNAS

Syndromes/panels

TP53;FusionGenes:rnrnEWSR1-FLI1

Syndromes/panels

GATM-BRAF

Syndromes/panels

HACL1-RAF1

Syndromes/panels

HERPUD1-BRAF

Syndromes/panels

ZSCAN30-BRAF

Syndromes/panels

ATM

Syndromes/panels

STK11

Syndromes/panels

FusionGenes:CCDC6-RET

Syndromes/panels

TRIM33-RET

Syndromes/panels

BAP1

Syndromes/panels

CDK4

Syndromes/panels

GNA11

Syndromes/panels

GNAQ

Syndromes/panels

TERT

Syndromes/panels

FusionGenes:FGFR2-CCDC6

Syndromes/panels

FGFR2-TACC3

Syndromes/panels

ATRX

Syndromes/panels

CDKN2B

Syndromes/panels

H3F3A

Syndromes/panels

HIST1H3B

Syndromes/panels

HIST1H3C

Syndromes/panels

IDH2

Syndromes/panels

MGMT

Syndromes/panels

TERT

Syndromes/panels

TP53

Syndromes/panels

APC

Syndromes/panels

CTNNB1

Syndromes/panels

ZNF217

Syndromes/panels

CDH1

Syndromes/panels

SMAD4

Syndromes/panels

ALK

Syndromes/panels

JAK1

Syndromes/panels

CCND1

Syndromes/panels

FAT1

Syndromes/panels

AKT1

Syndromes/panels

E2F3

Syndromes/panels

ERCC2

Syndromes/panels

PIK3CB

Syndromes/panels

TSC1;FusionGenes:FGFR3-BAIAP2L1

Syndromes/panels

ARFGEF2

Syndromes/panels

NOD2

Syndromes/panels

HLA-DQA1

Syndromes/panels

HLA-DQB1

Syndromes/panels

MCM9

Syndromes/panels

PSMC3IP

Syndromes/panels

AZF

Syndromes/panels

DMRT1

Syndromes/panels

TEX11

Syndromes/panels

AXIN

Syndromes/panels

GALNT12

Syndromes/panels

RNF43

Syndromes/panels

RPS20

Syndromes/panels

AQP2

Syndromes/panels

AVPR2

Syndromes/panels

SLC12A3

Syndromes/panels

RRAS2

Syndromes/panels

CPA1

Syndromes/panels

CTRC

Syndromes/panels

PRSS1

Syndromes/panels

SPINK1

Syndromes/panels

NKX6-2

Syndromes/panels

ZFYVE26

Syndromes/panels

ARHGEF10

Syndromes/panels

ATL3

Syndromes/panels

ATP1A1

Syndromes/panels

CCT5

Syndromes/panels

COX6A1

Syndromes/panels

CTDP1

Syndromes/panels

DCTN1

Syndromes/panels

DGAT2

Syndromes/panels

DHTKD1

Syndromes/panels

ELP1

Syndromes/panels

FGD4

Syndromes/panels

FIG4

Syndromes/panels

GAN

Syndromes/panels

GNB4

Syndromes/panels

HK1

Syndromes/panels

HOXD10

Syndromes/panels

HSPB3

Syndromes/panels

KIF5A

Syndromes/panels

MARS

Syndromes/panels

MCM3AP

Syndromes/panels

MED25

Syndromes/panels

MORC2

Syndromes/panels

MTMR2

Syndromes/panels

NDRG1

Syndromes/panels

NEFH

Syndromes/panels

PDK3

Syndromes/panels

PRDM12

Syndromes/panels

PRX

Syndromes/panels

RETREG1

Syndromes/panels

SBF1

Syndromes/panels

SBF2

Syndromes/panels

SCN11A

Syndromes/panels

SEPT9

Syndromes/panels

SIGMAR1

Syndromes/panels

SLC12A6

Syndromes/panels

SPG11

Syndromes/panels

SPTLC1

Syndromes/panels

SPTLC2

Syndromes/panels

SURF1

Syndromes/panels

SYT2

Syndromes/panels

TRIM2

Syndromes/panels

WNK1

Syndromes/panels

YARS

Syndromes/panels

ATP1A2

Syndromes/panels

HTT

Syndromes/panels

FXN

Syndromes/panels

PLPBP

Syndromes/panels

PNPO

Syndromes/panels

CHRNA4

Syndromes/panels

CHRNB2

Syndromes/panels

DEPDC5

Syndromes/panels

GAL

Syndromes/panels

GRIN2A

Syndromes/panels

LGI1

Syndromes/panels

NPRL2

Syndromes/panels

NPRL3

Syndromes/panels

ARHGEF15

Syndromes/panels

BRAT1

Syndromes/panels

CACNA1H

Syndromes/panels

CLCN4

Syndromes/panels

DYRK1A

Syndromes/panels

GLUL

Syndromes/panels

HDAC4

Syndromes/panels

KCNH5

Syndromes/panels

RANBP2

Syndromes/panels

ROGDI

Syndromes/panels

SIK1

Syndromes/panels

HTRA1

Syndromes/panels

NOTCH3

Syndromes/panels

CLN6

Syndromes/panels

PLA2G6

Syndromes/panels

UBR4

Syndromes/panels

FAT2

Syndromes/panels

KIF26B

Syndromes/panels

PLD3

Syndromes/panels

APP

Syndromes/panels

PSEN1

Syndromes/panels

PSEN2

Syndromes/panels

KY

Syndromes/panels

PYROXD1

Syndromes/panels

CCDC78

Syndromes/panels

CNTN1

Syndromes/panels

MEGF10

Syndromes/panels

MTMR14

Syndromes/panels

MYO18B

Syndromes/panels

SPTBN4

Syndromes/panels

STAC3

Syndromes/panels

B3GALNT2

Syndromes/panels

B4GAT1

Syndromes/panels

RXYLT1

Syndromes/panels

FBXL4

Syndromes/panels

ISCU

Syndromes/panels

LPIN1

Syndromes/panels

MGME1

Syndromes/panels

SLC25A4

Syndromes/panels

ATP7B

Syndromes/panels

ARG1

Syndromes/panels

ASL

Syndromes/panels

ASS1

Syndromes/panels

CPS1

Syndromes/panels

NAGS

Syndromes/panels

SLC25A13

Syndromes/panels

SLC25A15

Syndromes/panels

PCCA

Syndromes/panels

PCCB

Syndromes/panels

ALAD

Syndromes/panels

ALAS2

Syndromes/panels

CPOX

Syndromes/panels

FECH

Syndromes/panels

HMBS

Syndromes/panels

PPOX

Syndromes/panels

UROD

Syndromes/panels

UROS

Syndromes/panels

KSR2

Syndromes/panels

LEP

Syndromes/panels

LEPR

Syndromes/panels

MC3R

Syndromes/panels

MC4R

Syndromes/panels

MRAP2

Syndromes/panels

PCSK1

Syndromes/panels

POMC

Syndromes/panels

SH2B1

Syndromes/panels

SIM1

Syndromes/panels

SMPD1

Syndromes/panels

ARSB

Syndromes/panels

GALNS

Syndromes/panels

GLB1

Syndromes/panels

GUSB

Syndromes/panels

HGSNAT

Syndromes/panels

HYAL1

Syndromes/panels

IDUA

Syndromes/panels

NAGLU

Syndromes/panels

SGSH

Syndromes/panels

MVK

Syndromes/panels

MMUT

Syndromes/panels

ANGPTL3

Syndromes/panels

AGXT

Syndromes/panels

GRHPR

Syndromes/panels

HOGA1

Syndromes/panels

MTHFR

Syndromes/panels

ADH1B

Syndromes/panels

ALDH2

Syndromes/panels

BMPR1B

Syndromes/panels

EIF2AK4

Syndromes/panels

KCNA5

Syndromes/panels

KCNK3

Syndromes/panels

SMAD1

Syndromes/panels

SMAD9

Syndromes/panels

SLC34A2

Syndromes/panels

ABCA3

Syndromes/panels

CSF2RA

Syndromes/panels

CSF2RB

Syndromes/panels

FOXF1

Syndromes/panels

SFTPB

Syndromes/panels

SFTPC

Syndromes/panels

A1AT

Syndromes/panels

AP3B1

Syndromes/panels

CLPB

Syndromes/panels

CSF3R

Syndromes/panels

CXCR4

Syndromes/panels

DNAJC21

Syndromes/panels

G6PC3

Syndromes/panels

GATA1

Syndromes/panels

GATA2

Syndromes/panels

GFI1

Syndromes/panels

HAX1

Syndromes/panels

HYOU1

Syndromes/panels

JAGN1

Syndromes/panels

LAMTOR2

Syndromes/panels

LYST

Syndromes/panels

MRTFA

Syndromes/panels

RAB27A

Syndromes/panels

SLC37A4

Syndromes/panels

SMARCD2

Syndromes/panels

USB1

Syndromes/panels

VPS45

Syndromes/panels

WDR1

Syndromes/panels

SH2D1A

Syndromes/panels

AICDA

Syndromes/panels

UNG

Syndromes/panels