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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

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

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

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

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

B3GALNT2

Syndromes/panels

B4GAT1

Syndromes/panels

BCAP31

Syndromes/panels

BLNK

Syndromes/panels

BRAT1

Syndromes/panels

BRD4

Syndromes/panels

CA4

Syndromes/panels

CACNA1H

Syndromes/panels

CAPN10

Syndromes/panels

CARS-ALK

Syndromes/panels

CATSPER1

Syndromes/panels

CC2D1A

Syndromes/panels

CCBE1

Syndromes/panels

CCDC6-RET

Syndromes/panels

CCDC78

Syndromes/panels

CCT5

Syndromes/panels

CD320

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

CDK5RAP2

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

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

CSF2RA

Syndromes/panels

CSF2RB

Syndromes/panels

CTDP1

Syndromes/panels

CTNNA1

Syndromes/panels

CTRC

Syndromes/panels

CTSA

Syndromes/panels

CUX1-RET

Syndromes/panels

CYP11A1

Syndromes/panels

CYP11B1

Syndromes/panels

DAZL

Syndromes/panels

DCTN1

Syndromes/panels

DCTN1-ALK

Syndromes/panels

DDX25

Syndromes/panels

DDX3X

Syndromes/panels

DENND1A

Syndromes/panels

DEPDC5

Syndromes/panels

DGAT2

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

DUSP6

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

EML4-ALK

Syndromes/panels

ENO3

Syndromes/panels

EPB42

Syndromes/panels

EPCAM*

Syndromes/panels

ERF

Syndromes/panels

ERLIN2

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

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

FGF17

Syndromes/panels

FGFR1-PLAG1;SoftTissueSarcomaFusionGenePanel:ASPSCR1-TFE3

Syndromes/panels

FGFR2-TACC3

Syndromes/panels

FGFR3-TACC3

Syndromes/panels

FIG4

Syndromes/panels

Findoutpossiblecausesofunexplainedmiscarriagesusingstructuralchromosomalanalyses

Syndromes/panels

FLRT3

Syndromes/panels

FN1-ALK

Syndromes/panels

FOXF1

Syndromes/panels

FRMPD4

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

GCM2

Syndromes/panels

GCSH

Syndromes/panels

GDI1

Syndromes/panels

GFAP

Syndromes/panels

GFI1

Syndromes/panels

GK

Syndromes/panels

GLUD1

Syndromes/panels

GLUL

Syndromes/panels

GMPPA

Syndromes/panels

GNAI1

Syndromes/panels

GNB4

Syndromes/panels

GNRH1

Syndromes/panels

GNRHR

Syndromes/panels

GOPC-ROS1

Syndromes/panels

GPAA1

Syndromes/panels

GPKOW

Syndromes/panels

GREM1*

Syndromes/panels

GRIK2

Syndromes/panels

GRIN2A

Syndromes/panels

GSPT2

Syndromes/panels

GYG1

Syndromes/panels

GYS1

Syndromes/panels

GYS2

Syndromes/panels

HACL1-RAF1

Syndromes/panels

HADH

Syndromes/panels

HARS2

Syndromes/panels

HCCS

Syndromes/panels

HDAC4

Syndromes/panels

HDAC6

Syndromes/panels

HEPACAM

Syndromes/panels

HERPUD1-BRAF

Syndromes/panels

HESX1

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

HMGCS2

Syndromes/panels

HNRNPH2

Syndromes/panels

HOXD10

Syndromes/panels

HPD

Syndromes/panels

HS6ST1

Syndromes/panels

HSD3B2

Syndromes/panels

HSPB3

Syndromes/panels

HTRA1

Syndromes/panels

HTT

Syndromes/panels

HYOU1

Syndromes/panels

IDH3B

Syndromes/panels

IGBP1

Syndromes/panels

IGLL1

Syndromes/panels

IKBKG

Syndromes/panels

IL11RA

Syndromes/panels

IL17RD

Syndromes/panels

IL1RAPL1

Syndromes/panels

IMPAD1

Syndromes/panels

IMPDH1

Syndromes/panels

IMPG2

Syndromes/panels

IRS1

Syndromes/panels

IRS2

Syndromes/panels

IRX5

Syndromes/panels

ISCU

Syndromes/panels

JAGN1

Syndromes/panels

KATNB1

Syndromes/panels

KCNE5

Syndromes/panels

KCNH5

Syndromes/panels

KIAA0556

Syndromes/panels

KIAA2022

Syndromes/panels

KIF26B

Syndromes/panels

KIF4A

Syndromes/panels

KIF5A

Syndromes/panels

KIF5B-ALK

Syndromes/panels

KIF5B-RET

Syndromes/panels

KIRREL3

Syndromes/panels

KISS1

Syndromes/panels

KISS1R

Syndromes/panels

KIZ

Syndromes/panels

KLC1-ALK

Syndromes/panels

KLF8

Syndromes/panels

KLHL15

Syndromes/panels

KLHL7

Syndromes/panels

KNL1

Syndromes/panels

KPTN

Syndromes/panels

KY

Syndromes/panels

LAMTOR2

Syndromes/panels

LAS1L

Syndromes/panels

LEFTY2

Syndromes/panels

LGI1

Syndromes/panels

LIAS

Syndromes/panels

LMBRD1

Syndromes/panels

LPIN1

Syndromes/panels

LRIG3-ROS1

Syndromes/panels

LRP5

Syndromes/panels

LRRC8A

Syndromes/panels

LYST

Syndromes/panels

MAD2L2

Syndromes/panels

MAK

Syndromes/panels

MAN2B1

Syndromes/panels

MANBA

Syndromes/panels

MAPKBP1

Syndromes/panels

MARS

Syndromes/panels

MAX

Syndromes/panels

MBTPS2

Syndromes/panels

MCEE

Syndromes/panels

MCM3AP

Syndromes/panels

MCPH1

Syndromes/panels

MED25

Syndromes/panels

MEGF10

Syndromes/panels

MEGF8

Syndromes/panels

MERTK

Syndromes/panels

MFSD2A

Syndromes/panels

MGME1

Syndromes/panels

MGMT

Syndromes/panels

microarrayCGH(aCGH)

Syndromes/panels

MID2

Syndromes/panels

MLYCD

Syndromes/panels

monosomyX

Syndromes/panels

MORC2

Syndromes/panels

MPRIP-NTRK1

Syndromes/panels

MRTFA

Syndromes/panels

MSL3

Syndromes/panels

MSX2

Syndromes/panels

MTHFR

Syndromes/panels

MTMR14

Syndromes/panels

MTMR2

Syndromes/panels

MTR

Syndromes/panels

MVK

Syndromes/panels

MYH3

Syndromes/panels

MYO18B

Syndromes/panels

MYOM1

Syndromes/panels

NAA10

Syndromes/panels

NAGA

Syndromes/panels

NCAPD2

Syndromes/panels

NCAPD3

Syndromes/panels

NCAPH

Syndromes/panels

NCOA4-RET

Syndromes/panels

NCOR1

Syndromes/panels

NDP

Syndromes/panels

NDRG1

Syndromes/panels

NEFH

Syndromes/panels

NEK2

Syndromes/panels

NEXMIF

Syndromes/panels

NFATC2-EWSR1

Syndromes/panels

NFIB

Syndromes/panels

NKX6-2

Syndromes/panels

NM_000130.4(F5):c.1601G>A(p.Arg534Gln).rnrnNM_000130.4(F5):c.3980A>G(p.His1327Arg).rnrnNM_000129.3(F13A1):c.103G>T(p.Val35Leu).rnrnNM_000212.2(ITGB3):c.176T>C(p.Leu59Pro).rnrnNM_000173.7(GP1BA):c.482C>T(p.Thr161Met).rnrnNM_000419.5(ITGA2B):c.2621T>G(p.Ile874Ser).rnrnNM_000212.2(ITGB3):c.506G>A(p.Arg169Gln).rnNM_002203.4(ITGA2):c.1600G>A(p.Glu534Lys).rnrnNM_000212.2(ITGB3):c.1544G>A(p.Arg515Gln).rnrnNM_000602.5(SERPINE1):c.-820G[(4_5)].rnrnNM_005957.5(MTHFR):c.665C>T(p.Ala222Val).rnrnNM_005957.4(MTHFR):c.1286A>C(p.Glu429Ala).rnrnNM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382.rnrnNM_000384.3(APOB):c.10580G>A(p.Arg3527Gln).rnrnNM_000041.2(APOE):c.526C>T(p.Arg176Cys).rnrnNM_000041.4(APOE):c.388T>C(p.Cys130Arg).rnrnNM_000254.2(MTR):c.2756A>G(p.Asp919Gly).rnNM_002454.3(MTRR):c.66A>G(p.Ile22Met).rnrnNM_000029.4(AGT):c.803T>C(p.Met268Thr).rnrnNM_031850.3(AGTR1):c.*86A>C.rnrnNM_000852.4(GSTP1):c.313A>G(p.Ile105Val).rnNM_000506.5(F2):c.*97G>A.

Syndromes/panels

NOD2

Syndromes/panels

NOTCH3

Syndromes/panels

NPRL2

Syndromes/panels

NPRL3

Syndromes/panels

NRL

Syndromes/panels

NSDHL

Syndromes/panels

NTRK1/2/3fusion

Syndromes/panels

NUP37

Syndromes/panels

NUS1

Syndromes/panels

NXF5

Syndromes/panels

NXN

Syndromes/panels

OCRL

Syndromes/panels

OGT

Syndromes/panels

P4HB

Syndromes/panels

PAK3

Syndromes/panels

partialandmosaicchangesonall23chromosomalpairs.rnrnSelectedmalepolyploidiesarereported

Syndromes/panels

partialormosaicchromosomalaneuploidiesonall23chromosomalpairs.rnrnSelectedmalepolyploidiesarereported

Syndromes/panels

PAX3-FOXO1

Syndromes/panels

PAX7-FOXO1

Syndromes/panels

PCARE

Syndromes/panels

PCCA

Syndromes/panels

PCCB

Syndromes/panels

PCNT

Syndromes/panels

PDE6A

Syndromes/panels

PDE6B

Syndromes/panels

PDE6G

Syndromes/panels

PDK3

Syndromes/panels

PEX11B

Syndromes/panels

PEX12

Syndromes/panels

PEX13

Syndromes/panels

PEX14

Syndromes/panels

PEX16

Syndromes/panels

PEX19

Syndromes/panels

PEX26

Syndromes/panels

PEX3

Syndromes/panels

PEX5

Syndromes/panels

PGAP1

Syndromes/panels

PGAP2

Syndromes/panels

PGAP3

Syndromes/panels

PGK1

Syndromes/panels

PHC1

Syndromes/panels

PHF8

Syndromes/panels

PHKA2

Syndromes/panels

PHKG2

Syndromes/panels

PHYH

Syndromes/panels

PIGC

Syndromes/panels

PIGG

Syndromes/panels

PIGH

Syndromes/panels

PIGL

Syndromes/panels

PIGM

Syndromes/panels

PIGO

Syndromes/panels

PIGS

Syndromes/panels

PIGU

Syndromes/panels

PIGW

Syndromes/panels

PIGY

Syndromes/panels

PLA2G6

Syndromes/panels

PLD3

Syndromes/panels

PLPBP

Syndromes/panels

PLS3

Syndromes/panels

PNPO

Syndromes/panels

POF1B

Syndromes/panels

POR

Syndromes/panels

PORCN

Syndromes/panels

POT1

Syndromes/panels

PPFIBP1-ALK

Syndromes/panels

PPM1K

Syndromes/panels

PPOX

Syndromes/panels

PPP2R5D

Syndromes/panels

PRCD

Syndromes/panels

PRDM12

Syndromes/panels

PRM1

Syndromes/panels

PROC

Syndromes/panels

PROK2

Syndromes/panels

PROKR2

Syndromes/panels

PROM1

Syndromes/panels

PROS1

Syndromes/panels

PRPF3

Syndromes/panels

PRPF4

Syndromes/panels

PRPF6

Syndromes/panels

PRPF8

Syndromes/panels

PRSS1

Syndromes/panels

PRSS12

Syndromes/panels

PRX

Syndromes/panels

PSEN1

Syndromes/panels

PSEN2

Syndromes/panels

PTCH2

Syndromes/panels

PTH

Syndromes/panels

PYGL

Syndromes/panels

PYROXD1

Syndromes/panels

RAB27A

Syndromes/panels

RAB40AL

Syndromes/panels

RAD51

Syndromes/panels

RAD51B

Syndromes/panels

RAF1-ESRP1

Syndromes/panels

RANBP2

Syndromes/panels

RANBP2-ALK

Syndromes/panels

RANGRF

Syndromes/panels

RBMX

Syndromes/panels

RBP3

Syndromes/panels

RECQL4

Syndromes/panels

RETREG1

Syndromes/panels

RFWD3

Syndromes/panels

RHD

Syndromes/panels

RHEB

Syndromes/panels

RHO

Syndromes/panels

RLIM

Syndromes/panels

RNF113A

Syndromes/panels

RNF135

Syndromes/panels

rnrnSTK11

Syndromes/panels

ROGDI

Syndromes/panels

ROM1

Syndromes/panels

ROR2

Syndromes/panels

ROS1;Non-SmallCellLungCarcinomaFusionGenePanel:BAG4-FGFR1

Syndromes/panels

RP1

Syndromes/panels

RP9

Syndromes/panels

RPE65

Syndromes/panels

RPS20

Syndromes/panels

RPS6KA3

Syndromes/panels

RRAS2

Syndromes/panels

RXYLT1

Syndromes/panels

SAG

Syndromes/panels

SASS6

Syndromes/panels

SBF1

Syndromes/panels

SBF2

Syndromes/panels

SCARF2

Syndromes/panels

SCN11A

Syndromes/panels

SCP2

Syndromes/panels

SDC4-ROS1

Syndromes/panels

SEC24D

Syndromes/panels

SEC31A-ALK

Syndromes/panels

SEMA3A

Syndromes/panels

SEMA4A

Syndromes/panels

SEPT9

Syndromes/panels

SERAC1

Syndromes/panels

SETD2

Syndromes/panels

SFTPB

Syndromes/panels

SFTPC

Syndromes/panels

SH2D1A

Syndromes/panels

SHANK2

Syndromes/panels

SHANK3

Syndromes/panels

SHROOM4

Syndromes/panels

SIGMAR1

Syndromes/panels

SIK1

Syndromes/panels

SLC12A3

Syndromes/panels

SLC16A2

Syndromes/panels

SLC25A5

Syndromes/panels

SLC2A2

Syndromes/panels

SLC34A2

Syndromes/panels

SLC34A2-ROS1

Syndromes/panels

SLC41A1

Syndromes/panels

SLC45A3-BRAF

Syndromes/panels

SLC4A1

Syndromes/panels

SLC6A9

Syndromes/panels

SLC7A14

Syndromes/panels

SMAD1

Syndromes/panels

SMAD4

Syndromes/panels

SMARCC2

Syndromes/panels

SMARCD2

Syndromes/panels

SMS

Syndromes/panels

SNRNP200

Syndromes/panels

SOBP

Syndromes/panels

SOX11

Syndromes/panels

SOX3

Syndromes/panels

SOX4

Syndromes/panels

SPECC1L

Syndromes/panels

SPG11

Syndromes/panels

SPINK1

Syndromes/panels

SPRY4

Syndromes/panels

SPTA1

Syndromes/panels

SPTB

Syndromes/panels

SPTBN4

Syndromes/panels

SPTLC1

Syndromes/panels

SPTLC2

Syndromes/panels

SRD5A1

Syndromes/panels

SRY

Syndromes/panels

SS18-SSX1

Syndromes/panels

SS18-SSX2

Syndromes/panels

SS18-SSX4

Syndromes/panels

STAC3

Syndromes/panels

STIL

Syndromes/panels

STK11

Syndromes/panels

STRN-ALK

Syndromes/panels

SUFU

Syndromes/panels

SURF1

Syndromes/panels

SYN1

Syndromes/panels

SYP

Syndromes/panels

SYT2

Syndromes/panels

TACR3

Syndromes/panels

TAF1

Syndromes/panels

TBC1D7

Syndromes/panels

TBR1

Syndromes/panels

TERT

Syndromes/panels

testingforwhole

Syndromes/panels

TEX11

Syndromes/panels

TFG-ALK

Syndromes/panels

THADA

Syndromes/panels

THOC2

Syndromes/panels

TIMM50

Syndromes/panels

TIMM8A

Syndromes/panels

TMCO1

Syndromes/panels

TMEM127

Syndromes/panels

TMPO

Syndromes/panels

TMPRSS2-ERG

Syndromes/panels

TOPORS

Syndromes/panels

TP53;FusionGenes:ESRP1-RAF1

Syndromes/panels

TP53;FusionGenes:rnrnEWSR1-FLI1

Syndromes/panels

TP53

Syndromes/panels

TPM3-ALK

Syndromes/panels

TPM3-ROS1

Syndromes/panels

TPM4-ALK

Syndromes/panels

TPR-ALK

Syndromes/panels

TRAF3IP1

Syndromes/panels

TRAPPC9

Syndromes/panels

TRIM2

Syndromes/panels

TRIM33-RET;Non-SmallCellLungCarcinomaGenePanel:ALK

Syndromes/panels

TRIM33-RET

Syndromes/panels

TRIM33-RET;Non-SmallCellLungCarcinomaTargetedPanel:BRAF

Syndromes/panels

trisomy13

Syndromes/panels

Trisomy18

Syndromes/panels

trisomy21

Syndromes/panels

TSC1;FusionGenes:FGFR3-BAIAP2L1

Syndromes/panels

TSHR

Syndromes/panels

TSPAN7

Syndromes/panels

TULP1

Syndromes/panels

TXNRD2

Syndromes/panels

u00a0IL1RN

Syndromes/panels

u00a0IL36RN

Syndromes/panels

u00a0LDHA

Syndromes/panels

u00a0LPIN2

Syndromes/panels

u00a0MEFV

Syndromes/panels

u00a0MVK

Syndromes/panels

u00a0NLRC4

Syndromes/panels

u00a0NLRP12

Syndromes/panels

u00a0NLRP3

Syndromes/panels

u00a0NOD2

Syndromes/panels

u00a0PAH

Syndromes/panels

u00a0PSMB8

Syndromes/panels

u00a0PSTPIP1

Syndromes/panels

u00a0SLC16A1

Syndromes/panels

u00a0SMN1

Syndromes/panels

u00a0TMEM173

Syndromes/panels

u00a0TNFRSF1A

Syndromes/panels

UBE2L3-KRAS

Syndromes/panels

UBE2T

Syndromes/panels

UBR4

Syndromes/panels

UNG

Syndromes/panels

UROD

Syndromes/panels

UROS

Syndromes/panels

USB1

Syndromes/panels

USP26

Syndromes/panels

USP27X

Syndromes/panels

USP9X

Syndromes/panels

USP9Y

Syndromes/panels

VPS33A

Syndromes/panels

VRK1.

Syndromes/panels

VWF

Syndromes/panels

WASHC5

Syndromes/panels

WDFY3

Syndromes/panels

WDR1

Syndromes/panels

WDR11

Syndromes/panels

WDR13

Syndromes/panels

WDR45

Syndromes/panels

WDR62

Syndromes/panels

WNK1

Syndromes/panels

WNT5A

Syndromes/panels

XPNPEP3

Syndromes/panels

XXX

Syndromes/panels

YARS

Syndromes/panels

YY1-EWSR1

Syndromes/panels

ZC3H14

Syndromes/panels

ZC4H2

Syndromes/panels

ZCCHC12

Syndromes/panels

ZDHHC15

Syndromes/panels

ZEB1

Syndromes/panels

ZFYVE26

Syndromes/panels

ZIC1

Syndromes/panels

ZMYM3

Syndromes/panels

ZNF217

Syndromes/panels

ZNF335

Syndromes/panels

ZNF408

Syndromes/panels

ZNF41

Syndromes/panels

ZNF513

Syndromes/panels

ZNF526

Syndromes/panels

ZNF674

Syndromes/panels

ZNF711

Syndromes/panels

ZNF81

Syndromes/panels

ZP1

Syndromes/panels

ZSCAN30-BRAF

Syndromes/panels

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