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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

ARFGEF2

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

APC

Syndromes/panels

AXIN

Syndromes/panels

BMPR1A

Syndromes/panels

EPCAM

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

NTRK1

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

FAT1

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

FAH

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

PAH

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

MMUT

Syndromes/panels

BCKDHA

Syndromes/panels

BCKDHB

Syndromes/panels

DBT

Syndromes/panels

IVD

Syndromes/panels

ANGPTL3

Syndromes/panels

AGXT

Syndromes/panels

GRHPR

Syndromes/panels

HOGA1

Syndromes/panels

MTHFR

Syndromes/panels

GALT

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

BLNK

Syndromes/panels

CD79A

Syndromes/panels

CD79B

Syndromes/panels

IGLL1

Syndromes/panels

LRRC8A

Syndromes/panels

PIK3R1

Syndromes/panels

HARS2

Syndromes/panels

CEP250

Syndromes/panels

EED

Syndromes/panels

HIST1H1E

Syndromes/panels

ANKLE2

Syndromes/panels

ASPM

Syndromes/panels

CDK5RAP2

Syndromes/panels

CDK6

Syndromes/panels

CENPE

Syndromes/panels

CENPJ

Syndromes/panels

CEP135

Syndromes/panels

CEP152

Syndromes/panels

CIT

Syndromes/panels

COPB2

Syndromes/panels

DONSON

Syndromes/panels

KNL1

Syndromes/panels

MCPH1

Syndromes/panels

MFSD2A

Syndromes/panels

NCAPD2

Syndromes/panels

NCAPD3

Syndromes/panels

NCAPH

Syndromes/panels

NUP37

Syndromes/panels

PCNT

Syndromes/panels

PHC1

Syndromes/panels

SASS6

Syndromes/panels

STIL

Syndromes/panels

WDFY3

Syndromes/panels

WDR62

Syndromes/panels

ZEB1

Syndromes/panels

ZNF335

Syndromes/panels

AKT3

Syndromes/panels

ASPA

Syndromes/panels

CCND2

Syndromes/panels

DVL1

Syndromes/panels

DVL3

Syndromes/panels

GFAP

Syndromes/panels

HEPACAM

Syndromes/panels

KPTN

Syndromes/panels

MLC1

Syndromes/panels

MTOR

Syndromes/panels

NFIB

Syndromes/panels

NXN

Syndromes/panels

PIK3R2

Syndromes/panels

PPP2R5D

Syndromes/panels

PTCH1

Syndromes/panels

PTCH2

Syndromes/panels

RHEB

Syndromes/panels

RNF135

Syndromes/panels

ROR2

Syndromes/panels

SETD2

Syndromes/panels

SUFU

Syndromes/panels

TBC1D7

Syndromes/panels

TMCO1

Syndromes/panels

WASHC5

Syndromes/panels

WNT5A

Syndromes/panels

KATNB1

Syndromes/panels

GPAA1

Syndromes/panels

PGAP1

Syndromes/panels

PGAP2

Syndromes/panels

PGAP3

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

ANKRD11

Syndromes/panels

BRD4

Syndromes/panels

RAD21

Syndromes/panels

ARID1A

Syndromes/panels

ARID1B

Syndromes/panels

ARID2

Syndromes/panels

DPF2

Syndromes/panels

SMARCC2

Syndromes/panels

SOX11

Syndromes/panels

SOX4

Syndromes/panels

AUTS2

Syndromes/panels

CNOT3

Syndromes/panels

DPP6

Syndromes/panels

GNAI1

Syndromes/panels

SHANK2

Syndromes/panels

SHANK3

Syndromes/panels

TBR1

Syndromes/panels

TSC1

Syndromes/panels

TSC2

Syndromes/panels

microarrayCGH

Syndromes/panels

ABCD1

Syndromes/panels

ACSL4

Syndromes/panels

AFF2

Syndromes/panels

AGTR2

Syndromes/panels

AP4B1

Syndromes/panels

AP4E1

Syndromes/panels

AP4M1

Syndromes/panels

AP4S1

Syndromes/panels

ARHGEF6

Syndromes/panels

ATP6AP2

Syndromes/panels

BCAP31

Syndromes/panels

BCOR

Syndromes/panels

CC2D1A

Syndromes/panels

CDH15

Syndromes/panels

CLIC2

Syndromes/panels

CNKSR2

Syndromes/panels

CRBN

Syndromes/panels

DDX3X

Syndromes/panels

DKC1

Syndromes/panels

DLG3

Syndromes/panels

EBP

Syndromes/panels

EIF2S3

Syndromes/panels

ERLIN2

Syndromes/panels

FAAH2

Syndromes/panels

FRMPD4

Syndromes/panels

FTSJ1

Syndromes/panels

GDI1

Syndromes/panels

GK

Syndromes/panels

GPKOW

Syndromes/panels

GRIK2

Syndromes/panels

GSPT2

Syndromes/panels

HCCS

Syndromes/panels

HCFC1

Syndromes/panels

HDAC6

Syndromes/panels

HMGB3

Syndromes/panels

HNRNPH2

Syndromes/panels

HSD17B10

Syndromes/panels

IGBP1

Syndromes/panels

IKBKG

Syndromes/panels

IL1RAPL1

Syndromes/panels

KIAA2022

Syndromes/panels

KIF4A

Syndromes/panels

KIRREL3

Syndromes/panels

KLF8

Syndromes/panels

KLHL15

Syndromes/panels

LAS1L

Syndromes/panels

MAN1B1

Syndromes/panels

MBTPS2

Syndromes/panels

MID2

Syndromes/panels

MSL3

Syndromes/panels

NAA10

Syndromes/panels

NDP

Syndromes/panels

NEXMIF

Syndromes/panels

NSDHL

Syndromes/panels

NXF5

Syndromes/panels

OCRL

Syndromes/panels

OGT

Syndromes/panels

PAK3

Syndromes/panels

PDHA1

Syndromes/panels

PGK1

Syndromes/panels

PHF8

Syndromes/panels

PORCN

Syndromes/panels

PRSS12

Syndromes/panels

RAB40AL

Syndromes/panels

RBMX

Syndromes/panels

RLIM

Syndromes/panels

RNF113A

Syndromes/panels

RPS6KA3

Syndromes/panels

SHROOM4

Syndromes/panels

SLC16A2

Syndromes/panels

SLC25A5

Syndromes/panels

SLC6A8

Syndromes/panels

SMS

Syndromes/panels

SOBP

Syndromes/panels

SOX3

Syndromes/panels

STAG2

Syndromes/panels

SYN1

Syndromes/panels

SYP

Syndromes/panels

TAF1

Syndromes/panels

THOC2

Syndromes/panels

TIMM8A

Syndromes/panels

TRAPPC9

Syndromes/panels

TSPAN7

Syndromes/panels

USP27X

Syndromes/panels

USP9X

Syndromes/panels

WDR13

Syndromes/panels

WDR45

Syndromes/panels

ZC3H14

Syndromes/panels

ZC4H2

Syndromes/panels

ZCCHC12

Syndromes/panels

ZDHHC15

Syndromes/panels

ZMYM3

Syndromes/panels

ZNF41

Syndromes/panels

ZNF526

Syndromes/panels

ZNF674

Syndromes/panels

ZNF711

Syndromes/panels

ZNF81

Syndromes/panels

IL1RN

Syndromes/panels

IL36RN

Syndromes/panels

LPIN2

Syndromes/panels

NLRC4

Syndromes/panels

NLRP12

Syndromes/panels

PSMB8

Syndromes/panels

PSTPIP1

Syndromes/panels

TMEM173

Syndromes/panels

VCAN

Syndromes/panels

ABCA4

Syndromes/panels

CA4

Syndromes/panels

CDHR1

Syndromes/panels

CERKL

Syndromes/panels

CRB1

Syndromes/panels

DHDDS

Syndromes/panels

EYS

Syndromes/panels

FAM161A

Syndromes/panels

FSCN2

Syndromes/panels

IDH3B

Syndromes/panels

IMPDH1

Syndromes/panels

IMPG2

Syndromes/panels

KIZ

Syndromes/panels

KLHL7

Syndromes/panels

MAK

Syndromes/panels

MERTK

Syndromes/panels

NEK2

Syndromes/panels

NR2E3

Syndromes/panels

NRL

Syndromes/panels

PCARE

Syndromes/panels

PDE6A

Syndromes/panels

PDE6B

Syndromes/panels

PDE6G

Syndromes/panels

PRCD

Syndromes/panels

PROM1

Syndromes/panels

PRPF3

Syndromes/panels

PRPF4

Syndromes/panels

PRPF6

Syndromes/panels

PRPF8

Syndromes/panels

RBP3

Syndromes/panels

RHO

Syndromes/panels

ROM1

Syndromes/panels

RP1

Syndromes/panels

RP9

Syndromes/panels

RPE65

Syndromes/panels

RPGR

Syndromes/panels

SAG

Syndromes/panels

SEMA4A

Syndromes/panels

SLC7A14

Syndromes/panels

SNRNP200

Syndromes/panels

TOPORS

Syndromes/panels

TULP1

Syndromes/panels

ZNF408

Syndromes/panels

ZNF513

Syndromes/panels

CYP11B1

Syndromes/panels

CYP11B2

Syndromes/panels

CYP17A1

Syndromes/panels

CYP21A2

Syndromes/panels

HSD3B2

Syndromes/panels

COL9A1

Syndromes/panels

COL9A2

Syndromes/panels

ABCC6

Syndromes/panels

COL4A1

Syndromes/panels

COL4A2

Syndromes/panels