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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

22q11.2

Syndromes/panels

22RNA-basedgenes rn rnDNA:ABL1

Syndromes/panels

4p16.3

Syndromes/panels

638DNA-basedgenes

Syndromes/panels

ELANE

Syndromes/panels

MEFV

Syndromes/panels

FusionNTRK3::ETV6

Syndromes/panels

FusionNTRK1

Syndromes/panels

FusionGenes:NTRK1

Syndromes/panels

A1AT

Syndromes/panels

ABCA3

Syndromes/panels

ABCA4

Syndromes/panels

ABCD4

Syndromes/panels

ACAD8

Syndromes/panels

ACADS

Syndromes/panels

ACADSB

Syndromes/panels

ACVR1B

Syndromes/panels

ADARB2

Syndromes/panels

ADCY1

Syndromes/panels

ADH1B

Syndromes/panels

AGO1

Syndromes/panels

AGO2

Syndromes/panels

AICDA

Syndromes/panels

AJUBA

Syndromes/panels

ALAD

Syndromes/panels

ALAS2

Syndromes/panels

ALB

Syndromes/panels

ALDH2

Syndromes/panels

ALDH6A1

Syndromes/panels

alongwithsegmentalorstructuralaneuploidiesover10Mb.

Syndromes/panels

ALOX12B

Syndromes/panels

ALX4

Syndromes/panels

AmfiraPGT-Apaneltestsforwhole

Syndromes/panels

AmfiraPST-SRincludesPGT-Aanalysis

Syndromes/panels

ANK1

Syndromes/panels

AP3B1

Syndromes/panels

APLNR

Syndromes/panels

APP

Syndromes/panels

ARFRP1

Syndromes/panels

ARHGAP35

Syndromes/panels

ARHGEF10

Syndromes/panels

ARHGEF15

Syndromes/panels

ARID5B

Syndromes/panels

ASXL2

Syndromes/panels

ATL3

Syndromes/panels

ATP1A1

Syndromes/panels

ATP1A2

Syndromes/panels

ATR

Syndromes/panels

AUH

Syndromes/panels

AURKA

Syndromes/panels

AURKB

Syndromes/panels

AURKC

Syndromes/panels

AVPR2

Syndromes/panels

AXIN

Syndromes/panels

AXIN1

Syndromes/panels

AXIN2

Syndromes/panels

AXL

Syndromes/panels

AZF

Syndromes/panels

B3GALNT2

Syndromes/panels

B4GAT1

Syndromes/panels

BABAM1

Syndromes/panels

BBC3

Syndromes/panels

BCL10

Syndromes/panels

BCL2L1

Syndromes/panels

BCL2L11

Syndromes/panels

BCL2L2

Syndromes/panels

BDP1

Syndromes/panels

BIRC3

Syndromes/panels

BLNK

Syndromes/panels

BRAT1

Syndromes/panels

BTG1

Syndromes/panels

BTG2

Syndromes/panels

CA4

Syndromes/panels

CABP2

Syndromes/panels

CACNA1H

Syndromes/panels

CAPN10

Syndromes/panels

CARD11

Syndromes/panels

CARM1

Syndromes/panels

CASP8

Syndromes/panels

CATSPER1

Syndromes/panels

CCDC50

Syndromes/panels

CCDC78

Syndromes/panels

CCNB3

Syndromes/panels

CCT5

Syndromes/panels

CD164

Syndromes/panels

CD276

Syndromes/panels

CD320

Syndromes/panels

CD70

Syndromes/panels

CDC14A

Syndromes/panels

CDC42

Syndromes/panels

CDC45

Syndromes/panels

CDH4

Syndromes/panels

CDHR1

Syndromes/panels

CDK7

Syndromes/panels

CDK8

Syndromes/panels

CDKN1A

Syndromes/panels

CDKN2A(CDKN2Ap16(INK4A)

Syndromes/panels

CDKN2B

Syndromes/panels

CDKN2C

Syndromes/panels

CEACAM16

Syndromes/panels

CENPA

Syndromes/panels

CEP104

Syndromes/panels

CEP164

Syndromes/panels

CEP250

Syndromes/panels

CEP55

Syndromes/panels

CHEK1

Syndromes/panels

CHRNA4

Syndromes/panels

CHRNB2

Syndromes/panels

CJA5

Syndromes/panels

CLDN14

Syndromes/panels

CLDN9

Syndromes/panels

CLIC5

Syndromes/panels

CMTR2

Syndromes/panels

CNTN1

Syndromes/panels

CNTN4

Syndromes/panels

COCH

Syndromes/panels

COG2

Syndromes/panels

COL4A6

Syndromes/panels

COL9A1

Syndromes/panels

COL9A2

Syndromes/panels

COX6A1

Syndromes/panels

CPA1

Syndromes/panels

CPOX

Syndromes/panels

CRKL

Syndromes/panels

CRLF2

Syndromes/panels

CRYM

Syndromes/panels

CSDE1

Syndromes/panels

CSF2RA

Syndromes/panels

CSF2RB

Syndromes/panels

CSNK1A1

Syndromes/panels

CTDP1

Syndromes/panels

CTR9

Syndromes/panels

CTRC

Syndromes/panels

CUL3

Syndromes/panels

CUL4A

Syndromes/panels

CYLD

Syndromes/panels

CYP11A1

Syndromes/panels

CYP11B1

Syndromes/panels

CYP2C19

Syndromes/panels

CYP2D6

Syndromes/panels

CYSLTR2

Syndromes/panels

DAXX

Syndromes/panels

DAZL

Syndromes/panels

DCTN1

Syndromes/panels

DCUN1D1

Syndromes/panels

DDR1

Syndromes/panels

DDX25

Syndromes/panels

DENND1A

Syndromes/panels

DEPDC5

Syndromes/panels

DGAT2

Syndromes/panels

DHTKD1

Syndromes/panels

DIABLO

Syndromes/panels

DIAPH1

Syndromes/panels

DIS3

Syndromes/panels

DMRT1

Syndromes/panels

DMXL2

Syndromes/panels

DNAJB1

Syndromes/panels

DNAJC21

Syndromes/panels

DNMT3B

Syndromes/panels

DOT1L

Syndromes/panels

DROSHA

Syndromes/panels

DUOX2

Syndromes/panels

DUSP4

Syndromes/panels

DUSP6

Syndromes/panels

E2F3

Syndromes/panels

EFNB1

Syndromes/panels

EGFL7

Syndromes/panels

EIF4A2

Syndromes/panels

EIF4E

Syndromes/panels

ELF3

Syndromes/panels

ELMOD3

Syndromes/panels

EML4

Syndromes/panels

EMSY

Syndromes/panels

ENO3

Syndromes/panels

EPAS1

Syndromes/panels

EPB42

Syndromes/panels

EPHA3

Syndromes/panels

EPHA5

Syndromes/panels

EPHA7

Syndromes/panels

EPHB1

Syndromes/panels

EPS8

Syndromes/panels

EPS8L2

Syndromes/panels

ERRFI1

Syndromes/panels

ESPN

Syndromes/panels

ESRP1

Syndromes/panels

ESRRB

Syndromes/panels

ETAA1

Syndromes/panels

ETS1

Syndromes/panels

EWSR1::ATF1

Syndromes/panels

EWSR1::CREB1

Syndromes/panels

EWSR1::DDIT3

Syndromes/panels

EWSR1::ERG

Syndromes/panels

EWSR1::ETV1

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::ZNF384

Syndromes/panels

EWSR1::ZNF444

Syndromes/panels

EYA4

Syndromes/panels

EZH1

Syndromes/panels

EZR

Syndromes/panels

F13A1

Syndromes/panels

F2

Syndromes/panels

F7

Syndromes/panels

F8

Syndromes/panels

FAM175A

Syndromes/panels

FAM189A2

Syndromes/panels

FAM46C

Syndromes/panels

FAM58A

Syndromes/panels

FAS

Syndromes/panels

FAT1

Syndromes/panels

FAT2

Syndromes/panels

FAT4

Syndromes/panels

FBP1

Syndromes/panels

FBXL4

Syndromes/panels

FECH

Syndromes/panels

FEZF1

Syndromes/panels

FGD4

Syndromes/panels

FGF1

Syndromes/panels

FGF10

Syndromes/panels

FGF17

Syndromes/panels

FGF23

Syndromes/panels

FGF4

Syndromes/panels

FGF5

Syndromes/panels

FGF6

Syndromes/panels

FGF7

Syndromes/panels

FGF9

Syndromes/panels

FIG4

Syndromes/panels

Findoutpossiblecausesofunexplainedmiscarriagesusingstructuralchromosomalanalyses

Syndromes/panels

FLI1

Syndromes/panels

FLRT3

Syndromes/panels

FOXP3

Syndromes/panels

FSCN2

Syndromes/panels

FUCA1

Syndromes/panels

FUS::ATF1

Syndromes/panels

FUS::CREB3L1

Syndromes/panels

FUS::CREB3L2

Syndromes/panels

FUS::DDIT3

Syndromes/panels

FUS::FEV

Syndromes/panels

FUT8

Syndromes/panels

FYN

Syndromes/panels

G6PC3

Syndromes/panels

GAB2

Syndromes/panels

GABRA6

Syndromes/panels

GAL

Syndromes/panels

GALNT12

Syndromes/panels

GAMT

Syndromes/panels

GAN

Syndromes/panels

GATM

Syndromes/panels

GCM2

Syndromes/panels

GCSH

Syndromes/panels

GEN1

Syndromes/panels

GFI1

Syndromes/panels

GID4

Syndromes/panels

GIPC3

Syndromes/panels

GJB3

Syndromes/panels

GLE1

Syndromes/panels

GLI1

Syndromes/panels

GLUD1

Syndromes/panels

GLUL

Syndromes/panels

GMPPA

Syndromes/panels

GNA13

Syndromes/panels

GNB4

Syndromes/panels

GNRH1

Syndromes/panels

GNRHR

Syndromes/panels

GPR124

Syndromes/panels

GPS2

Syndromes/panels

GRAP

Syndromes/panels

GREM1*

Syndromes/panels

GRHL2

Syndromes/panels

GRM3

Syndromes/panels

GRXCR1

Syndromes/panels

GRXCR2

Syndromes/panels

GSDME

Syndromes/panels

GSK3B

Syndromes/panels

GUCY1A1

Syndromes/panels

GYG1

Syndromes/panels

GYS1

Syndromes/panels

GYS2

Syndromes/panels

H3F3B

Syndromes/panels

H3F3C

Syndromes/panels

HADH

Syndromes/panels

HARS2

Syndromes/panels

HDAC1

Syndromes/panels

HESX1

Syndromes/panels

HIST1H1C

Syndromes/panels

HIST1H2BD

Syndromes/panels

HIST1H3A

Syndromes/panels

HIST1H3B

Syndromes/panels

HIST1H3C

Syndromes/panels

HIST1H3D

Syndromes/panels

HIST1H3E

Syndromes/panels

HIST1H3F

Syndromes/panels

HIST1H3G

Syndromes/panels

HIST1H3H

Syndromes/panels

HIST1H3I

Syndromes/panels

HIST1H3J

Syndromes/panels

HIST2H3A

Syndromes/panels

HIST2H3C

Syndromes/panels

HIST2H3D

Syndromes/panels

HIST3H3

Syndromes/panels

HK1

Syndromes/panels

HLA-A

Syndromes/panels

HLA-B

Syndromes/panels

HLA-C

Syndromes/panels

HLA-DQA1

Syndromes/panels

HLA-DQB1

Syndromes/panels

HMBS

Syndromes/panels

HMGCS2

Syndromes/panels

HNRNPK

Syndromes/panels

HOMER2

Syndromes/panels

HOXD10

Syndromes/panels

HPD

Syndromes/panels

HS6ST1

Syndromes/panels

HSD3B1

Syndromes/panels

HSD3B2

Syndromes/panels

HSP90AA1

Syndromes/panels

HSPB3

Syndromes/panels

HTRA1

Syndromes/panels

HTT

Syndromes/panels

HYOU1

Syndromes/panels

ICOSLG

Syndromes/panels

ID3

Syndromes/panels

IDH3B

Syndromes/panels

IFNGR1

Syndromes/panels

IGF1

Syndromes/panels

IGF1R

Syndromes/panels

IGF2

Syndromes/panels

IGHM

Syndromes/panels

IGLL1

Syndromes/panels

IKBKE

Syndromes/panels

IL10

Syndromes/panels

IL11RA

Syndromes/panels

IL17RD

Syndromes/panels

ILDR1

Syndromes/panels

IMPAD1

Syndromes/panels

IMPDH1

Syndromes/panels

IMPG2

Syndromes/panels

INHBA

Syndromes/panels

INPP4A

Syndromes/panels

INPP4B

Syndromes/panels

INPPL1

Syndromes/panels

IRF2

Syndromes/panels

IRX5

Syndromes/panels

ISCU

Syndromes/panels

JAGN1

Syndromes/panels

JUN

Syndromes/panels

KBTBD4

Syndromes/panels

KCNH5

Syndromes/panels

KCNQ4

Syndromes/panels

KDM5A

Syndromes/panels

KEL

Syndromes/panels

KIAA0556

Syndromes/panels

KIF26B

Syndromes/panels

KIF5A

Syndromes/panels

KIF5B

Syndromes/panels

KISS1

Syndromes/panels

KISS1R

Syndromes/panels

KITLG

Syndromes/panels

KIZ

Syndromes/panels

KLF1

Syndromes/panels

KLF4

Syndromes/panels

KLF5

Syndromes/panels

KLHL6

Syndromes/panels

KMT2B

Syndromes/panels

KMT5A

Syndromes/panels

KNSTRN

Syndromes/panels

KY

Syndromes/panels

LAMP1

Syndromes/panels

LAMTOR2

Syndromes/panels

LATS1

Syndromes/panels

LATS2

Syndromes/panels

LBR

Syndromes/panels

LGI1

Syndromes/panels

LHFPL5

Syndromes/panels

LIAS

Syndromes/panels

LMBRD1

Syndromes/panels

LMO1

Syndromes/panels

LMX1A

Syndromes/panels

LPIN1

Syndromes/panels

LRP1B

Syndromes/panels

LRP5

Syndromes/panels

LRRC8A

Syndromes/panels

LRTOMT

Syndromes/panels

LTK

Syndromes/panels

LYN

Syndromes/panels

LYST

Syndromes/panels

MAD2L2

Syndromes/panels

MAGI2

Syndromes/panels

MAK

Syndromes/panels

MAN2B1

Syndromes/panels

MANBA

Syndromes/panels

MAP2K4

Syndromes/panels

MAP3K13

Syndromes/panels

MAP3K14

Syndromes/panels

MAP3K4

Syndromes/panels

MAPK1

Syndromes/panels

MAPK3

Syndromes/panels

MAPKAP1

Syndromes/panels

MAPKBP1

Syndromes/panels

MARS

Syndromes/panels

MARVELD2

Syndromes/panels

MCEE

Syndromes/panels

MCL1

Syndromes/panels

MCM2

Syndromes/panels

MCM3AP

Syndromes/panels

MDC1

Syndromes/panels

MDM4

Syndromes/panels

MED25

Syndromes/panels

MEF2B

Syndromes/panels

MEGF10

Syndromes/panels

MEGF8

Syndromes/panels

MERTK

Syndromes/panels

MGA

Syndromes/panels

MGME1

Syndromes/panels

MGMTpromotormethylation

Syndromes/panels

microarrayCGH(aCGH)

Syndromes/panels

MIR182

Syndromes/panels

MIR183

Syndromes/panels

MIR96

Syndromes/panels

MLLT1

Syndromes/panels

MLYCD

Syndromes/panels

monosomyX

Syndromes/panels

MORC2

Syndromes/panels

MPZL2

Syndromes/panels

MRTFA

Syndromes/panels

MSI

Syndromes/panels

MSI1

Syndromes/panels

MSI2

Syndromes/panels

MSRB3

Syndromes/panels

MST1

Syndromes/panels

MST1R

Syndromes/panels

MSX2

Syndromes/panels

MTAP

Syndromes/panels

MTHFR

Syndromes/panels

MTMR14

Syndromes/panels

MTMR2

Syndromes/panels

MTR

Syndromes/panels

MVK

Syndromes/panels

MYB

Syndromes/panels

MYCL

Syndromes/panels

MYO15A

Syndromes/panels

MYO18B

Syndromes/panels

MYO3A

Syndromes/panels

MYRF

Syndromes/panels

NAB2

Syndromes/panels

NADK

Syndromes/panels

NAGA

Syndromes/panels

NARS2

Syndromes/panels

NCOR1

Syndromes/panels

NDRG1

Syndromes/panels

NEFH

Syndromes/panels

NEGR1

Syndromes/panels

NEK2

Syndromes/panels

NFATC2::EWSR1

Syndromes/panels

NFKBIA

Syndromes/panels

NKX3-1

Syndromes/panels

NKX6-2

Syndromes/panels

NLRP3

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

NOTCH4

Syndromes/panels

NPRL2

Syndromes/panels

NPRL3

Syndromes/panels

NRL

Syndromes/panels

NT5C2

Syndromes/panels

NTRK3

Syndromes/panels

NUF2

Syndromes/panels

NUP93

Syndromes/panels

OPCML

Syndromes/panels

OSBPL2

Syndromes/panels

OTOA

Syndromes/panels

OTOF

Syndromes/panels

OTOG

Syndromes/panels

OTOGL

Syndromes/panels

P2RX2

Syndromes/panels

P2RY8

Syndromes/panels

P4HB

Syndromes/panels

PAK1

Syndromes/panels

PAK7

Syndromes/panels

PARK2

Syndromes/panels

PARP2

Syndromes/panels

PARP3

Syndromes/panels

partialandmosaicchangesonall23chromosomalpairs.rnrnSelectedmalepolyploidiesarereported

Syndromes/panels

partialormosaicchromosomalaneuploidiesonall23chromosomalpairs.rnrnSelectedmalepolyploidiesarereported

Syndromes/panels

PAX3::FOXO1

Syndromes/panels

PAX5

Syndromes/panels

PAX7

Syndromes/panels

PAX7::FOXO1

Syndromes/panels

PBRM1

Syndromes/panels

PCARE

Syndromes/panels

PCCA

Syndromes/panels

PCCB

Syndromes/panels

PD-1

Syndromes/panels

PD-L1

Syndromes/panels

PD-L2

Syndromes/panels

PDE1C

Syndromes/panels

PDE6A

Syndromes/panels

PDE6B

Syndromes/panels

PDE6G

Syndromes/panels

PDK1

Syndromes/panels

PDK3

Syndromes/panels

PDPK1

Syndromes/panels

PEX11B

Syndromes/panels

PEX12

Syndromes/panels

PEX13

Syndromes/panels

PEX14

Syndromes/panels

PEX16

Syndromes/panels

PEX19

Syndromes/panels

PEX26

Syndromes/panels

PGBD5

Syndromes/panels

PHKA2

Syndromes/panels

PHKG2

Syndromes/panels

PHOX2B

Syndromes/panels

PHYH

Syndromes/panels

PIK3C2B

Syndromes/panels

PIK3C2G

Syndromes/panels

PIK3C3

Syndromes/panels

PIK3CD

Syndromes/panels

PIK3CG

Syndromes/panels

PIK3R3

Syndromes/panels

PIM1

Syndromes/panels

PJVK

Syndromes/panels

PKLR

Syndromes/panels

PLA2G6

Syndromes/panels

PLCG2

Syndromes/panels

PLD3

Syndromes/panels

PLK2

Syndromes/panels

PLPBP

Syndromes/panels

PLS1

Syndromes/panels

PLS3

Syndromes/panels

PMAIP1

Syndromes/panels

PMS1

Syndromes/panels

PNPO

Syndromes/panels

PNPT1

Syndromes/panels

PNRC1

Syndromes/panels

POF1B

Syndromes/panels

POR

Syndromes/panels

POT1

Syndromes/panels

POU3F4

Syndromes/panels

POU4F3

Syndromes/panels

PPARG

Syndromes/panels

PPIP5K2

Syndromes/panels

PPM1K

Syndromes/panels

PPOX

Syndromes/panels

PPP2R2A

Syndromes/panels

PPP4R2

Syndromes/panels

PPP6C

Syndromes/panels

PRCD

Syndromes/panels

PRDM1

Syndromes/panels

PRDM12

Syndromes/panels

PRDM14

Syndromes/panels

PREX2

Syndromes/panels

PRKAR1A

Syndromes/panels

PRKCI

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

PRSS8

Syndromes/panels

PRX

Syndromes/panels

PSEN1

Syndromes/panels

PSEN2

Syndromes/panels

PTH

Syndromes/panels

PTP4A1

Syndromes/panels

PTPRD

Syndromes/panels

PTPRN2

Syndromes/panels

PTPRQ

Syndromes/panels

PTPRS

Syndromes/panels

PTPRT

Syndromes/panels

PYGL

Syndromes/panels

PYROXD1

Syndromes/panels

QKI

Syndromes/panels

RAB27A

Syndromes/panels

RAB35

Syndromes/panels

RAC2

Syndromes/panels

RAD51B

Syndromes/panels

RAD52

Syndromes/panels

RAD54L

Syndromes/panels

RANBP2

Syndromes/panels

RBP3

Syndromes/panels

RDX

Syndromes/panels

REL

Syndromes/panels

RETREG1

Syndromes/panels

RFWD2

Syndromes/panels

RFWD3

Syndromes/panels

RHD

Syndromes/panels

RHO

Syndromes/panels

RHOA

Syndromes/panels

RICTOR

Syndromes/panels

RIPOR2

Syndromes/panels

rnDHCR7

Syndromes/panels

rnEWSR1::ETV4

Syndromes/panels

RNF213

Syndromes/panels

rnFUS::ERG

Syndromes/panels

rnGLUL

Syndromes/panels

rnLIPA

Syndromes/panels

rnNRAS

Syndromes/panels

rnPIEZO1

Syndromes/panels

rnSLC22A5

Syndromes/panels

ROGDI

Syndromes/panels

ROM1

Syndromes/panels

ROR1

Syndromes/panels

RP1

Syndromes/panels

RP9

Syndromes/panels

RPE65

Syndromes/panels

RPS20

Syndromes/panels

RPS6KA4

Syndromes/panels

RPS6KB1

Syndromes/panels

RPS6KB2

Syndromes/panels

RPTOR

Syndromes/panels

RRAGC

Syndromes/panels

RSPO2

Syndromes/panels

RTEL1

Syndromes/panels

RXRA

Syndromes/panels

RXYLT1

Syndromes/panels

RYBP

Syndromes/panels

S1PR2

Syndromes/panels

SAG

Syndromes/panels

SBF1

Syndromes/panels

SBF2

Syndromes/panels

SCARF2

Syndromes/panels

SCG5

Syndromes/panels

SCN11A

Syndromes/panels

SCP2

Syndromes/panels

SDC4

Syndromes/panels

SEC24D

Syndromes/panels

SEMA3A

Syndromes/panels

SEMA4A

Syndromes/panels

SEPT9

Syndromes/panels

SERAC1

Syndromes/panels

SERPINB3

Syndromes/panels

SERPINB4

Syndromes/panels

SERPINB6

Syndromes/panels

SESN1

Syndromes/panels

SESN2

Syndromes/panels

SESN3

Syndromes/panels

SETDB1

Syndromes/panels

SF3B4

Syndromes/panels

SFTPB

Syndromes/panels

SFTPC

Syndromes/panels

SGK1

Syndromes/panels

SHQ1

Syndromes/panels

SIGMAR1

Syndromes/panels

SLC12A3

Syndromes/panels

SLC17A8

Syndromes/panels

SLC22A4

Syndromes/panels

SLC26A5

Syndromes/panels

SLC2A2

Syndromes/panels

SLC41A1

Syndromes/panels

SLC4A1

Syndromes/panels

SLC6A9

Syndromes/panels

SLC7A14

Syndromes/panels

SLFN11

Syndromes/panels

SLIT2

Syndromes/panels

SMAD1

Syndromes/panels

SMARCD2

Syndromes/panels

SMPX

Syndromes/panels

SMYD3

Syndromes/panels

SNCAIP

Syndromes/panels

SNRNP200

Syndromes/panels

SNTG2

Syndromes/panels

SOCS1

Syndromes/panels

SOX2

Syndromes/panels

SOX9

Syndromes/panels

SPECC1L

Syndromes/panels

SPEN

Syndromes/panels

SPG11

Syndromes/panels

SPINK1

Syndromes/panels

SPNS2

Syndromes/panels

SPRTN

Syndromes/panels

SPRY4

Syndromes/panels

SPTB

Syndromes/panels

SPTBN4

Syndromes/panels

SPTLC1

Syndromes/panels

SPTLC2

Syndromes/panels

SRC

Syndromes/panels

SRD5A1

Syndromes/panels

SRPX2

Syndromes/panels

SRY

Syndromes/panels

SS18::SSX1

Syndromes/panels

SS18::SSX4

Syndromes/panels

STAC3

Syndromes/panels

STAT4

Syndromes/panels

STAT5A

Syndromes/panels

STK19

Syndromes/panels

STK40

Syndromes/panels

STRC

Syndromes/panels

SURF1

Syndromes/panels

SYK

Syndromes/panels

SYNE4

Syndromes/panels

SYT2

Syndromes/panels

TACR3

Syndromes/panels

TALDO1

Syndromes/panels

TCEB1

Syndromes/panels

TCF7L2

Syndromes/panels

TECTA

Syndromes/panels

TEK

Syndromes/panels

TERTpromotor

Syndromes/panels

testingforwhole

Syndromes/panels

TET1

Syndromes/panels

TEX11

Syndromes/panels

TFE3

Syndromes/panels

TFRC

Syndromes/panels

THADA

Syndromes/panels

TIMM50

Syndromes/panels

TIPARP

Syndromes/panels

TJP2

Syndromes/panels

TMC1

Syndromes/panels

TMEM127

Syndromes/panels

TMEM132E

Syndromes/panels

TMIE

Syndromes/panels

TMPRSS3

Syndromes/panels

TNC

Syndromes/panels

TNFAIP3

Syndromes/panels

TNFRSF14

Syndromes/panels

Tobeconfirmed

Syndromes/panels

TOP1

Syndromes/panels

TOP2A

Syndromes/panels

TOPORS

Syndromes/panels

TP53rn

Syndromes/panels

TP53BP1

Syndromes/panels

TP63

Syndromes/panels

TPMT

Syndromes/panels

TPRN

Syndromes/panels

TRAF2

Syndromes/panels

TRAF3IP1

Syndromes/panels

TRAF7

Syndromes/panels

TRIM2

Syndromes/panels

TRIOBP

Syndromes/panels

TRIP13

Syndromes/panels

Trisomy13

Syndromes/panels

Trisomy18

Syndromes/panels

TSPEAR

Syndromes/panels

TULP1

Syndromes/panels

TYRO3

Syndromes/panels

u00a0DOLK

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

u00a0SOS1

Syndromes/panels

u00a0TMEM173

Syndromes/panels

u00a0TNFRSF1A

Syndromes/panels

UBE2T

Syndromes/panels

UBR4

Syndromes/panels

UNG

Syndromes/panels

UPF1

Syndromes/panels

UROD

Syndromes/panels

UROS

Syndromes/panels

USB1

Syndromes/panels

USP26

Syndromes/panels

USP8

Syndromes/panels

USP9Y

Syndromes/panels

VPS33A

Syndromes/panels

VRK1.

Syndromes/panels

VTCN1

Syndromes/panels

VWF

Syndromes/panels

WBP2

Syndromes/panels

WDR1

Syndromes/panels

WDR11

Syndromes/panels

WHSC1

Syndromes/panels

WHSC1L1

Syndromes/panels

WISP3

Syndromes/panels

WNK1

Syndromes/panels

WWTR1

Syndromes/panels

XIAP

Syndromes/panels

XPNPEP3

Syndromes/panels

XXX

Syndromes/panels

YAP1

Syndromes/panels

YARS

Syndromes/panels

YES1

Syndromes/panels

YY1::EWSR1

Syndromes/panels

ZBTB2

Syndromes/panels

ZBTB7A

Syndromes/panels

ZEB1

Syndromes/panels

ZFHX3

Syndromes/panels

ZFYVE26

Syndromes/panels

ZIC1

Syndromes/panels

ZNF217

Syndromes/panels

ZNF408

Syndromes/panels

ZNF513

Syndromes/panels

ZNF703

Syndromes/panels

ZNRF3

Syndromes/panels

ZP1

Syndromes/panels

ZRSR2 rn rnRNA:ALK

Syndromes/panels

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