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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

HERC1

Syndromes/panels