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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

<strong>ATM</strong>

Syndromes/panels

<strong>BRCA1</strong>

Syndromes/panels

<strong>BRCA2</strong>

Syndromes/panels

<strong>BRIP1</strong>

Syndromes/panels

<strong>CDH1</strong>

Syndromes/panels

<strong>CHEK2</strong>

Syndromes/panels

<strong>PALB2</strong>

Syndromes/panels

<strong>RAD51C</strong>

Syndromes/panels

<strong>RAD51D</strong>

Syndromes/panels

<strong>TP53</strong>

Syndromes/panels

17p11.2

Syndromes/panels

1p36

Syndromes/panels

22q11.2

Syndromes/panels

4p16.3

Syndromes/panels

ALK

Syndromes/panels

APC

Syndromes/panels

ATM

Syndromes/panels

ATRX

Syndromes/panels

BAP1

Syndromes/panels

ELANE

Syndromes/panels

MEFV

Syndromes/panels

CDKN2A

Syndromes/panels

EPCAM*

Syndromes/panels

EPCAM*

Syndromes/panels

FH

Syndromes/panels

FLCN

Syndromes/panels

FusionGenes:CCDC6-RET

Syndromes/panels

FusionGenes:FGFR2-CCDC6

Syndromes/panels

HOXB13

Syndromes/panels

LungCancerFusionGenePanel:CCDC6-RET

Syndromes/panels

MET

Syndromes/panels

SarcomaFusionGenePanel:NTRK3-ETV6

Syndromes/panels

VHL

Syndromes/panels

A1AT

Syndromes/panels

ABCA3

Syndromes/panels

ABCA4

Syndromes/panels

ABCD1

Syndromes/panels

ACSL4

Syndromes/panels

ADAMTSL4

Syndromes/panels

ADH1B

Syndromes/panels

AFF2

Syndromes/panels

AGL

Syndromes/panels

AGTR2

Syndromes/panels

AGXT

Syndromes/panels

AICDA

Syndromes/panels

AKT1

Syndromes/panels

ALAD

Syndromes/panels

ALAS2

Syndromes/panels

ALDH2

Syndromes/panels

ALK

Syndromes/panels

ALX4

Syndromes/panels

ANGPTL3

Syndromes/panels

ANK1

Syndromes/panels

ANKLE2

Syndromes/panels

ANKRD11

Syndromes/panels

AP3B1

Syndromes/panels

AP4B1

Syndromes/panels

AP4E1

Syndromes/panels

AP4M1

Syndromes/panels

AP4S1

Syndromes/panels

APP

Syndromes/panels

AQP2

Syndromes/panels

ARFGEF2

Syndromes/panels

ARG1

Syndromes/panels

ARHGEF10

Syndromes/panels

ARHGEF15

Syndromes/panels

ARHGEF6

Syndromes/panels

ARID2

Syndromes/panels

ARSB

Syndromes/panels

ASL

Syndromes/panels

ASPA

Syndromes/panels

ASPM

Syndromes/panels

ASS1

Syndromes/panels

ATIC-ALK

Syndromes/panels

ATL3

Syndromes/panels

ATP1A1

Syndromes/panels

ATP1A2

Syndromes/panels

ATP6AP2

Syndromes/panels

ATP7B

Syndromes/panels

AUTS2

Syndromes/panels

AVPR2

Syndromes/panels

AXIN

Syndromes/panels

AZF

Syndromes/panels

B3GALNT2

Syndromes/panels

B4GAT1

Syndromes/panels

BCAP31

Syndromes/panels

BCOR

Syndromes/panels

BLNK

Syndromes/panels

BRAT1

Syndromes/panels

BRD4

Syndromes/panels

CA4

Syndromes/panels

CACNA1H

Syndromes/panels

CARS-ALK

Syndromes/panels

CC2D1A

Syndromes/panels

CCBE1

Syndromes/panels

CCDC6-RET

Syndromes/panels

CCDC78

Syndromes/panels

CCND1

Syndromes/panels

CCT5

Syndromes/panels

CD74-NRG1

Syndromes/panels

CD74-NTRK1

Syndromes/panels

CD74-ROS1

Syndromes/panels

CD79A

Syndromes/panels

CD79B

Syndromes/panels

CDC45

Syndromes/panels

CDC73

Syndromes/panels

CDH15

Syndromes/panels

CDHR1

Syndromes/panels

CDK12

Syndromes/panels

CDK5RAP2

Syndromes/panels

CDK6

Syndromes/panels

CDKN2A(CDKN2Ap16(INK4A)

Syndromes/panels

CDKN2B

Syndromes/panels

CENPE

Syndromes/panels

CENPJ

Syndromes/panels

CEP104

Syndromes/panels

CEP135

Syndromes/panels

CEP152

Syndromes/panels

CEP164

Syndromes/panels

CEP250

Syndromes/panels

CERKL

Syndromes/panels

CHEK1

Syndromes/panels

CHRNA4

Syndromes/panels

CHRNB2

Syndromes/panels

CIT

Syndromes/panels

CLCN4

Syndromes/panels

CLIC2

Syndromes/panels

CLN6

Syndromes/panels

CLPB

Syndromes/panels

CLTC-ALK

Syndromes/panels

CNKSR2

Syndromes/panels

CNOT3

Syndromes/panels

CNTN1

Syndromes/panels

COL1A1-PDGFB

Syndromes/panels

COL4A2

Syndromes/panels

COL9A1

Syndromes/panels

COL9A2

Syndromes/panels

COPB2

Syndromes/panels

COX6A1

Syndromes/panels

CPA1

Syndromes/panels

CPOX

Syndromes/panels

CPS1

Syndromes/panels

CRB1

Syndromes/panels

CRBN

Syndromes/panels

CRTC1-MAML2

Syndromes/panels

CSF2RA

Syndromes/panels

CSF2RB

Syndromes/panels

CSF3R

Syndromes/panels

CTDP1

Syndromes/panels

CTNNA1

Syndromes/panels

CTNNB1

Syndromes/panels

CTRC

Syndromes/panels

CUX1-RET

Syndromes/panels

CXCR4

Syndromes/panels

CYP11B1

Syndromes/panels

CYP11B2

Syndromes/panels

CYP17A1

Syndromes/panels

DCTN1

Syndromes/panels

DCTN1-ALK

Syndromes/panels

DDX3X

Syndromes/panels

DEPDC5

Syndromes/panels

DGAT2

Syndromes/panels

DHDDS

Syndromes/panels

DHTKD1

Syndromes/panels

DKC1

Syndromes/panels

DLG3

Syndromes/panels

DMRT1

Syndromes/panels

DNAJC21

Syndromes/panels

DONSON

Syndromes/panels

DPF2

Syndromes/panels

DPP6

Syndromes/panels

DUOX2

Syndromes/panels

DVL1

Syndromes/panels

DVL3

Syndromes/panels

DYRK1A

Syndromes/panels

E2F3

Syndromes/panels

EBP

Syndromes/panels

EED

Syndromes/panels

EFNB1

Syndromes/panels

EIF2S3

Syndromes/panels

ELP1

Syndromes/panels

EML4-ALK

Syndromes/panels

EPB42

Syndromes/panels

EPCAM*

Syndromes/panels

ERF

Syndromes/panels

ERLIN2

Syndromes/panels

ESCO2

Syndromes/panels

ETV6-NTRK3

Syndromes/panels

EWSR1-ATF1

Syndromes/panels

EWSR1-CREB1

Syndromes/panels

EWSR1-DDIT3

Syndromes/panels

EWSR1-ERG

Syndromes/panels

EWSR1-ETV1

Syndromes/panels

EWSR1-ETV4

Syndromes/panels

EWSR1-FEV

Syndromes/panels

EWSR1-FLI1

Syndromes/panels

EWSR1-NR4A3

Syndromes/panels

EWSR1-PATZ1

Syndromes/panels

EWSR1-PBX1

Syndromes/panels

EWSR1-SMARCA5

Syndromes/panels

EWSR1-SP3

Syndromes/panels

EWSR1-WT1

Syndromes/panels

EWSR1-ZNF384

Syndromes/panels

EWSR1-ZNF444

Syndromes/panels

EYS

Syndromes/panels

EZR-ROS1

Syndromes/panels

F13A1

Syndromes/panels

F2

Syndromes/panels

F5

Syndromes/panels

F7

Syndromes/panels

F8

Syndromes/panels

F9

Syndromes/panels

FAAH2

Syndromes/panels

FAH

Syndromes/panels

FAM161A

Syndromes/panels

FAT1

Syndromes/panels

FAT2

Syndromes/panels

FBXL4

Syndromes/panels

FECH

Syndromes/panels

FGD4

Syndromes/panels

FGFR1-PLAG1;SoftTissueSarcomaFusionGenePanel:ASPSCR1-TFE3

Syndromes/panels

FGFR2-TACC3

Syndromes/panels

FGFR3-TACC3

Syndromes/panels

FIG4

Syndromes/panels

Findoutpossiblecausesofunexplainedmiscarriagesusingstructuralchromosomalanalyses

Syndromes/panels

FN1-ALK

Syndromes/panels

FOXA1

Syndromes/panels

FOXF1

Syndromes/panels

FRMPD4

Syndromes/panels

FSCN2

Syndromes/panels

FTSJ1

Syndromes/panels

FUS-ATF1

Syndromes/panels

FUS-CREB3L1

Syndromes/panels

FUS-CREB3L2

Syndromes/panels

FUS-DDIT3

Syndromes/panels

FUS-ERG

Syndromes/panels

FUS-FEV;SalivaryGlandSarcomaFusionGenePanel:CRTC1-MAML2

Syndromes/panels

FXN

Syndromes/panels

G6PC3

Syndromes/panels

GAL

Syndromes/panels

GALNS

Syndromes/panels

GALNT12

Syndromes/panels

GALT

Syndromes/panels

GAN

Syndromes/panels

GATA1

Syndromes/panels

GATA2

Syndromes/panels

GATM-BRAF

Syndromes/panels

GDI1

Syndromes/panels

GFAP

Syndromes/panels

GFI1

Syndromes/panels

GK

Syndromes/panels

GLB1

Syndromes/panels

GLUL

Syndromes/panels

GNA11

Syndromes/panels

GNAI1

Syndromes/panels

GNAQ

Syndromes/panels

GNAS

Syndromes/panels

GNB4

Syndromes/panels

GOPC-ROS1

Syndromes/panels

GPAA1

Syndromes/panels

GPKOW

Syndromes/panels

GREM1*

Syndromes/panels

GRHPR

Syndromes/panels

GRIK2

Syndromes/panels

GRIN2A

Syndromes/panels

GSPT2

Syndromes/panels

GUSB

Syndromes/panels

H3F3A

Syndromes/panels

HACL1-RAF1

Syndromes/panels

HARS2

Syndromes/panels

HAX1

Syndromes/panels

HBA1

Syndromes/panels

HBA2

Syndromes/panels

HBB

Syndromes/panels

HCCS

Syndromes/panels

HCFC1

Syndromes/panels

HDAC4

Syndromes/panels

HDAC6

Syndromes/panels

HEPACAM

Syndromes/panels

HERPUD1-BRAF

Syndromes/panels

HGSNAT

Syndromes/panels

HIP1-ALK

Syndromes/panels

HIST1H1E

Syndromes/panels

HIST1H3B

Syndromes/panels

HIST1H3C

Syndromes/panels

HK1

Syndromes/panels

HLA-DQA1

Syndromes/panels

HLA-DQB1

Syndromes/panels

HMBS

Syndromes/panels

HMGB3

Syndromes/panels

HNRNPH2

Syndromes/panels

HOGA1

Syndromes/panels

HOXD10

Syndromes/panels

HSD17B10

Syndromes/panels

HSD3B2

Syndromes/panels

HSPB3

Syndromes/panels

HTRA1

Syndromes/panels

HTT

Syndromes/panels

HYAL1

Syndromes/panels

HYOU1

Syndromes/panels

IDH1

Syndromes/panels

IDH2

Syndromes/panels

IDH3B

Syndromes/panels

IDUA

Syndromes/panels

IGBP1

Syndromes/panels

IGLL1

Syndromes/panels

IKBKG

Syndromes/panels

IL11RA

Syndromes/panels

IL1RAPL1

Syndromes/panels

IMPAD1

Syndromes/panels

IMPDH1

Syndromes/panels

IMPG2

Syndromes/panels

IRX5

Syndromes/panels

ISCU

Syndromes/panels

IVD

Syndromes/panels

JAGN1

Syndromes/panels

JAK1

Syndromes/panels

KARS1

Syndromes/panels