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GLOSSARY

All you need to know about genes, syndromes and panels

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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

17p11.2

Syndromes/panels

1p/19qcodeletion

Syndromes/panels

1p/19qcodeletion*rnrn*1p/19qcodeletionisreportedonlyinthecontextofgliomadiagnosis.

Syndromes/panels

1p/19qcodeletionrnrn*1p/19qcodeletionisreportedonlyinthecontextofgliomadiagnosis.

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

ABCD4

Syndromes/panels

ABL1

Syndromes/panels

ABL2

Syndromes/panels

ACAD8

Syndromes/panels

ACADS

Syndromes/panels

ACADSB

Syndromes/panels

ACSL4

Syndromes/panels

ADAMTSL4

Syndromes/panels

ADH1B

Syndromes/panels

AFF2

Syndromes/panels

AGTR2

Syndromes/panels

AICDA

Syndromes/panels

AKT2

Syndromes/panels

ALAD

Syndromes/panels

ALAS2

Syndromes/panels

ALDH2

Syndromes/panels

ALDH6A1

Syndromes/panels

alongwithsegmentalorstructuralaneuploidiesover10Mb.

Syndromes/panels

ALX4

Syndromes/panels

AmfiraPGT-Apaneltestsforwhole

Syndromes/panels

AmfiraPST-SRincludesPGT-Aanalysis

Syndromes/panels

ANK1

Syndromes/panels

ANKLE2

Syndromes/panels

ANKRD11

Syndromes/panels

ANKRD26

Syndromes/panels

AP3B1

Syndromes/panels

AP4B1

Syndromes/panels

AP4E1

Syndromes/panels

AP4M1

Syndromes/panels

AP4S1

Syndromes/panels

APP

Syndromes/panels

ARFGEF2

Syndromes/panels

ARHGEF10

Syndromes/panels

ARHGEF15

Syndromes/panels

ARHGEF6

Syndromes/panels

ARID2

Syndromes/panels

ASPM

Syndromes/panels

ASXL1

Syndromes/panels

ATIC-ALK

Syndromes/panels

ATL3

Syndromes/panels

ATP1A1

Syndromes/panels

ATP1A2

Syndromes/panels

ATP6AP2

Syndromes/panels

AUH

Syndromes/panels

AURKC

Syndromes/panels

AUTS2

Syndromes/panels

AVPR2

Syndromes/panels

AXIN

Syndromes/panels

AZF

Syndromes/panels

B2M

Syndromes/panels

B3GALNT2

Syndromes/panels

B4GAT1

Syndromes/panels

BCAP31

Syndromes/panels

BCL2

Syndromes/panels

BCL6

Syndromes/panels

BCORL1

Syndromes/panels

BCR

Syndromes/panels

BLNK

Syndromes/panels

BRAT1

Syndromes/panels

BRD4

Syndromes/panels

CA4

Syndromes/panels

CACNA1H

Syndromes/panels

CALR

Syndromes/panels

CAPN10

Syndromes/panels

CARS-ALK

Syndromes/panels

CATSPER1

Syndromes/panels

CBFB

Syndromes/panels

CBLB

Syndromes/panels

CBLC

Syndromes/panels

CC2D1A

Syndromes/panels

CCBE1

Syndromes/panels

CCDC6-RET

Syndromes/panels

CCDC78

Syndromes/panels

CCND3

Syndromes/panels

CCNE1

Syndromes/panels

CCT5

Syndromes/panels

CD274

Syndromes/panels

CD320

Syndromes/panels

CD74

Syndromes/panels

CD74-NRG1

Syndromes/panels

CD74-NTRK1

Syndromes/panels

CD74-ROS1

Syndromes/panels

CD79A

Syndromes/panels

CD79B

Syndromes/panels

CDC25C

Syndromes/panels

CDC45

Syndromes/panels

CDC73

Syndromes/panels

CDH15

Syndromes/panels

CDHR1

Syndromes/panels

CDK5RAP2

Syndromes/panels

CDKN2A(CDKN2Ap16(INK4A)

Syndromes/panels

CDKN2B

Syndromes/panels

CEBPA

Syndromes/panels

CENPE

Syndromes/panels

CENPJ

Syndromes/panels

CEP104

Syndromes/panels

CEP135

Syndromes/panels

CEP152

Syndromes/panels

CEP164

Syndromes/panels

CEP250

Syndromes/panels

CHEK1

Syndromes/panels

CHRNA4

Syndromes/panels

CHRNB2

Syndromes/panels

CIT

Syndromes/panels

CLCN4

Syndromes/panels

CLIC2

Syndromes/panels

CLTC-ALK

Syndromes/panels

CNKSR2

Syndromes/panels

CNOT3

Syndromes/panels

CNTN1

Syndromes/panels

COG2

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

CRBN

Syndromes/panels

CRTC1-MAML2

Syndromes/panels

CSF1R

Syndromes/panels

CSF2RA

Syndromes/panels

CSF2RB

Syndromes/panels

CTDP1

Syndromes/panels

CTLA4

Syndromes/panels

CTNNA1

Syndromes/panels

CTRC

Syndromes/panels

CTSA

Syndromes/panels

CUX1

Syndromes/panels

CUX1-RET

Syndromes/panels

CYP11A1

Syndromes/panels

CYP11B1

Syndromes/panels

DAZL

Syndromes/panels

DCK

Syndromes/panels

DCTN1

Syndromes/panels

DCTN1-ALK

Syndromes/panels

DDX25

Syndromes/panels

DDX3X

Syndromes/panels

DDX41

Syndromes/panels

DEK

Syndromes/panels

DENND1A

Syndromes/panels

DEPDC5

Syndromes/panels

DGAT2

Syndromes/panels

DHTKD1

Syndromes/panels

DHX15

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

DUSP22

Syndromes/panels

DUSP6

Syndromes/panels

DVL1

Syndromes/panels

DVL3

Syndromes/panels

DYRK1A

Syndromes/panels

E2F3

Syndromes/panels

EBP

Syndromes/panels

EED

Syndromes/panels

EFNB1

Syndromes/panels

EIF1AX

Syndromes/panels

EIF2S3

Syndromes/panels

EML4-ALK

Syndromes/panels

ENO3

Syndromes/panels

EPB42

Syndromes/panels

EPCAM*

Syndromes/panels

ERF

Syndromes/panels

ERG

Syndromes/panels

ERLIN2

Syndromes/panels

ETNK1

Syndromes/panels

ETV1

Syndromes/panels

ETV6

Syndromes/panels

ETV6-NTRK3

Syndromes/panels

EWSR1

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

EZR-ROS1

Syndromes/panels

F13A1

Syndromes/panels

F2

Syndromes/panels

F7

Syndromes/panels

F8

Syndromes/panels

FAAH2

Syndromes/panels

FAT1

Syndromes/panels

FAT2

Syndromes/panels

FBP1

Syndromes/panels

FBXL4

Syndromes/panels

FECH

Syndromes/panels

FEZF1

Syndromes/panels

FGD4

Syndromes/panels

FGF13

Syndromes/panels

FGF17

Syndromes/panels

FGF19

Syndromes/panels

FGF2

Syndromes/panels

FGF3

Syndromes/panels

FGFR1-PLAG1;SoftTissueSarcomaFusionGenePanel:ASPSCR1-TFE3

Syndromes/panels

FGFR2-TACC3

Syndromes/panels

FGFR3-TACC3

Syndromes/panels

FGFR4

Syndromes/panels

FIG4

Syndromes/panels

Findoutpossiblecausesofunexplainedmiscarriagesusingstructuralchromosomalanalyses

Syndromes/panels

FLRT3

Syndromes/panels

FLT1

Syndromes/panels

FLT4

Syndromes/panels

FN1-ALK

Syndromes/panels

FOXF1

Syndromes/panels

FOXO1

Syndromes/panels

FRMPD4

Syndromes/panels

FRS2

Syndromes/panels

FSCN2

Syndromes/panels

FTSJ1

Syndromes/panels

FUCA1

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

FUT8

Syndromes/panels

FXN

Syndromes/panels

G6PC3

Syndromes/panels

GAL

Syndromes/panels

GALNT12

Syndromes/panels

GAMT

Syndromes/panels

GAN

Syndromes/panels

GATM

Syndromes/panels

GATM-BRAF

Syndromes/panels

GCLC

Syndromes/panels