G-Mendeliome Disease-Specific Panel

Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage

Overview

17 Diseases in a Single NGS Reaction; G-Mendeliome Disease-specific Panel

Celemics’ G-Mendeliome disease-specific panels are designed to analyze genes in various inherited diseases including cardiology, neurology, and various cancers.

The panels were developed in collaboration with leading clinical laboratories with proven clinical usage. The panels support gene add-on services, allowing customers to expand the hybridization probes with genes of interest to fit their research needs. Additionally, we provide customized bioinformatics analysis services to customers through Celemics’ proprietary bioinformatics SW.
Disease Specific

Features & Benefits

Comprehensive Analysis of a Broad Range of diseases

The panel is capable of identifying diseases associated with: AML, ALL, Multiple Myeloma, Lymphoma, Hearing loss, Hereditary cancer syndrome, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Charcot-Marie-Tooth, Spastic paraplegia, Myopathy, Ataxia, Epilepsy, Parkinson, Alzheimer, Dementia, and Dystonia.

Disease Specific

Designed & Developed in Collaboration with the Leading CRO in the Country

Celemics has collaborated with the leading CRO laboratory in country under the purpose of practical uses in diagnostic field. As a result, we were able to design and develop 17 different ‘disease-specific’ panels for assessing particular genes of the related diseases. 

During the process of development and commercialization, extensive in-house validation runs have proven high sensitivity (>95%) and specificity (>99.5%) for all selected genes pertaining to each panel. 

Disease Specific

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count* 14 - 320 genes
Covered region Whole CDS, hotspots
Target size 37.5 - 1,160 Kb
Mutation type SNV, Indel, CNV
Sample type Differs by somatic or germline panel
Platform All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore
Bioinformatics Support ① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel
③ Tertiary Analysis: Clinical interpretation

List of Panels for various diseases

The contained genes of each specific disease panel are shown in the table below. If the panel does not contains genes of interest, customers can add those genes through our additional service. Please contact us for more information.

Panel Name Related Diseases Gene List

Alzheimer-Parkinson-
Dementia Panel

(101 genes, 244.8 kb)

Alzheimer’s disease,
Parkinson’s disease,
Dementia, Dystonia
AARS ABCA13 ABCA7 ABCB11 ADCY5 ALS2 ANG ANO3 APP
ATP13A2 ATP1A3 ATP7B C19orf12 CACNA1B CHCHD10 CHMP2B CHRNA4 CIZ1
COG1 COL4A4 COL6A3 DAO DCTN1 DNMT1 EVC FERMT1 FIG4
FREM2 FUS GBA GCH1 GNAL GNAO1 GRM1 GRN HNRNPA1
HNRNPA2B1 HPCA HPSE2 IL12RB2 KCTD17 KMT2B L2HGDH LAMA3 LRRK2
MAPT MATR3 MECR NDUFV3 NEK1 NPHS2 OPTN PANK2 PARK7
PDP1 PINK1 PLA2G6 PNKD PRKN PRKRA PRNP PRRT2 PSEN1
PSEN2 RELN SERPIND1 SETX SGCE SIGMAR1 SLC12A6 SLC19A3 SLC2A1
SLC30A10 SLC6A3 SNCA SOD1 SORL1 SOX6 SPG11 SQSTM1 SRY
SUMF1 TAF1 TAF15 TARDBP TBK1 TDRD7 TH THAP1 TIMM8A
TOR1A TREM2 TUBA4A TUBB4A UBQLN2 VAC14 VAPB VCAN VCP
VPS13A WNK1              
Panel Name Related Diseases Gene List
Bleeding Disorder-
Coagulopathy Panel
(147 genes, 326.3 Kb)
Bleeding Disorder,
Coagulation
AARS ABCA1 ABCA13 ABCB11 ACTN1 ANKRD26 ANO6 AP3B1 ARHGAP35
BLOC1S3 BLOC1S6 BRCA1 BRCA2 BRIP1 CD36 CDAN1 COG1 COL4A4
CPNE1 CYCS DDX41 DKC1 DNMT1 DTNBP1 ELANE ERCC4 ETV6
EVC F10 F11 F13A1 F13B F2 F5 F7 F8
F9 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI
FANCL FANCM FERMT1 FERMT2 FGA FGB FGG FLI1 FREM2
FYB1 GATA1 GATA2 GFI1 GFI1B GP1BA GP1BB GP6 GP9
GRM1 HAX1 HOXA11 HPS1 HPS3 HPS4 HPS5 HPS6 HPSE2
IFNG IL12RB2 ITGA2B ITGB3 KIAA1244 L2HGDH LAMA3 LMAN1 LYST
MASTL MCFD2 MLPH MPL MYH9 MYO5A NBEAL2 NBN NDUFV3
NHP2 NOP10 NPHS2 P2RY12 PALB2 PCNXL2 PDP1 PLA2G4A PLAU
PRF1 PRKACG PRUNE2 RAB27A RAD51C RASGRP2 RBM8A RIPK3 RPL11
RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7 RUNX1 SBDS
SEC23B SERPIND1 SERPINE1 SERPINF2 SLC12A6 SLFN14 SLX4 SOX6 SP4
SRC SRP72 SRY STIM1 SUMF1 TBXA2R TBXAS1 TDRD7 TERC
TERT TINF2 UBE2T USP6NL VCAN VIPAS39 VPS33B VWF WAS
WIPF1 WNK1 XRCC2
Panel Name Related Diseases Gene List
Cardiovascular Panel
(206 genes, 681.3 Kb)
Cardiac diseases AARS ABCA13 ABCB11 ABCC9 ABCG5 ABCG8 ACTA1 ACTA2 ACTC1
ACTN2 AKAP9 ALMS1 ANK2 ANKRD1 APOA4 APOA5 APOB APOC2
APOE ARHGAP35 BAG3 BRAF CACNA1C CACNA2D1 CACNB2 CALM1 CALR3
CASQ2 CAV3 CBL CBS CETP COG1 COL3A1 COL4A4 COL5A1
COL5A2 COX15 CPNE1 CREB3L3 CRELD1 CRYAB CSRP3 CTF1 DES
DMD DNAJC19 DNMT1 DOLK DPP6 DSC2 DSG2 DSP DTNA
EFEMP2 ELN EMD EVC EYA4 FBN1 FBN2 FERMT1 FHL1
FHL2 FKRP FKTN FREM2 FXN GAA GATAD1 GCKR GJA5
GLA GPD1L GPIHBP1 GRM1 HADHA HCN4 HFE HPSE2 HRAS
HSPB8 IL12RB2 ILK JAG1 JPH2 JUP KCNA5 KCND3 KCNE1
KCNE2 KCNE3 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KIAA1244 KLF10
KRAS L2HGDH LAMA2 LAMA3 LAMA4 LAMP2 LDB3 LDLR LDLRAP1
LMF1 LMNA LPL LTBP2 MAP2K1 MAP2K2 MIB1 MURC MYBPC3
MYH11 MYH6 MYH7 MYL2 MYL3 MYLK MYLK2 MYO6 MYOZ2
MYPN NDUFV3 NEXN NKX2-5 NODAL NOTCH1 NPHS2 NPPA NRAS
PCNXL2 PCSK9 PDLIM3 PDP1 PKP2 PLN PRDM16 PRKAG2 PRKAR1A
PRUNE2 PTPN11 RAF1 RANGRF RBM20 RIPK3 RYR1 RYR2 SALL4
SCN1B SCN2B SCN3B SCN4B SCN5A SCO2 SDHA SEPN1 SERPIND1
SGCB SGCD SGCG SHOC2 SLC12A6 SLC25A4 SLC2A10 SMAD3 SMAD4
SNTA1 SOS1 SOX6 SP4 SREBF2 SUMF1 TAZ TBX20 TBX3
TBX5 TCAP TDRD7 TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM43 TMPO
TNNC1 TNNI3 TNNT2 TPM1 TRDN TRIM63 TRPM4 TTN TTR
TXNRD2 USP6NL VCAN VCL WNK1 ZBTB17 ZHX3 ZIC3
Panel Name Related Diseases Gene List
Common Hereditary
Cancer Panel
(93 genes, 218 Kb)
Medical checkup AARS ABCA13 ABCB11 APC ARHGAP35 ATM ATRX BARD1 BMPR1A
BRAF BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 COG1 COL4A4
CPNE1 DNMT1 EGLN1 EGLN2 EPAS1 EPCAM EVC FERMT1 FGFR1
FH FREM2 GRM1 H3F3A HPSE2 HRAS IDH2 IL12RB2 KIAA1244
KIF1B KMT2D L2HGDH LAMA3 MAX MDH2 MEN1 MERTK MET
MLH1 MRE11 MSH2 MSH6 MUTYH NBN NDUFV3 NF1 NF2
NPHS2 PALB2 PCNXL2 PDP1 PMS2 POLD1 POLE PRSS1 PRUNE2
PTEN RAD50 RAD51C RAD51D RB1 RET RIPK3 SDHA SDHAF2
SDHB SDHC SDHD SERPIND1 SLC12A6 SMAD4 SOX6 SP4 SPINK1
STK11 SUMF1 TDRD7 TMEM127 TP53 TSC1 TSC2 USP6NL VCAN
VHL WNK1 WT1
Panel Name Related Diseases Gene List
Epilepsy Panel
(150 genes, 401.6 Kb)
Epilepsy AARS ABCA13 ABCB11 ADGRV1 ADSL ALDH7A1 ALG13 ARHGAP35 ARHGEF15
ARHGEF9 ARX ASAH1 ATP1A2 ATP6AP2 CACNA1A CASK CDKL5 CHD2
CHRNA2 CHRNA4 CHRNA7 CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLN8
CNTNAP2 COG1 COL4A4 CPNE1 CSTB CTSD DCX DEPDC5 DLG3
DNAJC5 DNM1 DNMT1 DOCK7 DYRK1A EEF1A2 EPM2A EVC FERMT1
FOLR1 FOXG1 FREM2 GABRA1 GABRA2 GABRB3 GABRG2 GAMT GATM
GNAO1 GOSR2 GRIN1 GRIN2A GRIN2B GRM1 HCN1 HDAC4 HNRNPU
HPSE2 IL12RB2 IQSEC2 KANSL1 KCNA2 KCNB1 KCNH5 KCNJ10 KCNMA1
KCNQ2 KCNQ3 KCNT1 KCTD7 KIAA1244 L2HGDH LAMA3 LGI1 MAGI2
MBD5 MECP2 MEF2C MFSD8 NDUFV3 NECAP1 NHLRC1 NPHS2 NR2F1
NRXN1 PCDH19 PCNXL2 PDP1 PIGA PIGO PIGQ PIGV PLCB1
PNKP PNPO POLG PPT1 PRICKLE1 PRICKLE2 PRRT2 PRUNE2 QARS
RELN RIPK3 SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SERPIND1
SLC12A6 SLC13A5 SLC25A22 SLC2A1 SLC35A2 SLC6A8 SLC9A6 SMS SOX6
SP4 SPTAN1 SRPX2 SRY ST3GAL3 STXBP1 SUMF1 SYN1 SYNGAP1
SYNJ1 SZT2 TBC1D24 TCF4 TDRD7 TPP1 TSC1 TSC2 UBE3A
USP6NL VCAN WDR45 WNK1 WWOX ZEB2
Panel Name Related Diseases Gene List
Hearing Loss-Deafness
Panel
(62 genes, 130.3 Kb)
Hearing loss,
Deafness
AARS ABCA13 ABCB11 ARHGAP35 CDH23 CLRN1 COCH COG1 COL11A1
COL2A1 COL4A4 CPNE1 DIAPH1 DNMT1 EDNRB EVC EYA1 FERMT1
FREM2 GJB2 GJB6 GRM1 HPSE2 IL12RB2 KCNE1 KCNQ1 KCNQ4
KIAA1244 L2HGDH LAMA3 MITF MYO15A MYO7A NDUFV3 NPHS2 OTOF
PAX3 PCNXL2 PDP1 POU3F4 PRUNE2 RIPK3 SERPIND1 SIX5 SLC12A6
SLC26A4 SNAI2 SOX10 SOX6 SP4 SUMF1 TDRD7 TECTA TMC1
TMIE TMPRSS3 USH1C USH2A USP6NL VCAN WFS1 WNK1
Panel Name Related Diseases Gene List
Lymphoid Leukemia
Panel
(85 genes, 109.2 Kb)
Acute lymphatic
leukemia
AARS ABCA13 ABCB11 ABL1 AMELX AMELY ARHGAP35 BRAF BTG1
CDKN2A COG1 COL4A4 CPNE1 CREBBP CRLF2 DNM2 DNMT1 DNMT3A
EP300 ETV6 EVC EZH2 FBXW7 FERMT1 FLT3 FREM2 GATA3
GRM1 HPSE2 IDH1 IDH2 IKZF1 IL12RB2 IL7R JAK1 JAK2
JAK3 KDM6A KIAA1244 KMT2A KMT2D KRAS L2HGDH LAMA3 LEF1
LMO1 MAPK1 NDUFV3 NF1 NOTCH1 NPHS2 NRAS NSD2 NT5C2
NUDT15 PAX5 PCNXL2 PDP1 PHF6 PRUNE2 PTEN PTPN11 RB1
RIPK3 RUNX1 SERPIND1 SETD2 SH2B3 SLC12A6 SOX6 SP4 SRY
STAG2 STAT3 STAT5B SUMF1 TBL1XR1 TCF3 TDRD7 TP53 TPMT
USP6NL VCAN WNK1 WT1
Panel Name Related Diseases Gene List
Lymphoma Panel
(83 genes, 118.3 Kb)
Lymphoma AARS ABCA13 ABCB11 ALK ARHGAP35 ATM B2M BCL6 BIRC3
BRAF BTK CARD11 CD79A CD79B COG1 COL4A4 CPNE1 CREBBP
CXCR4 DNMT1 EGR2 EP300 EVC EZH2 FAS FAT4 FBXO11
FERMT1 FREM2 GRM1 HPSE2 ID3 IDH2 IKBKB IKZF1 IL12RB2
JAK3 KIAA1244 KLF2 L2HGDH LAMA3 MYC MYD88 NDUFV3 NFKBIE
NOTCH1 NOTCH2 NPHS2 PCNXL2 PDP1 PLCG1 PLCG2 POT1 PRDM1
PRUNE2 RHOA RIPK3 RPS15 RRAGC SERPIND1 SF3B1 SLC12A6 SOCS1
SOX6 SP4 SRY STAT3 STAT5B SUMF1 TBL1XR1 TCF3 TDRD7
TET2 TNFAIP3 TNFRSF14 TP53 TP63 TRAF3 UBR5 USP6NL VCAN
WNK1 XPO1
Panel Name Related Diseases Gene List
Lysosomal Storage
Diseases Panel
(117 genes, 195.9 Kb)
Lysosomal storage
disease
AARS ABCA13 ABCB11 ABCD1 ACOX1 AGA AGL ALDOA ALDOB
ARHGAP35 ARSA ARSB ATP13A2 ATP7A ATP7B CLN3 CLN5 CLN6
CLN8 COG1 COL4A4 CPNE1 CTNS CTSA CTSD CTSF DNAJC5
DNMT1 EVC FERMT1 FREM2 FUCA1 G6PC GAA GALC GALE
GALK1 GALK2 GALNS GALT GBA GBE1 GJB2 GLA GLB1
GNPTAB GNPTG GNS GRM1 GRN GUSB GYS1 GYS2 HEXA
HEXB HGSNAT HPRT1 HPSE2 HYAL1 IDS IDUA IL12RB2 KCTD7
KIAA1244 L2HGDH LAMA3 LDHA LIPA MAN2B1 MANBA MCOLN1 MFSD8
NAGA NAGLU NDUFV3 NEU1 NPC1 NPC2 NPHS2 PCNXL2 PDP1
PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26
PEX3 PEX5 PEX6 PFKM PHKA2 PHKB PHKG2 PPT1 PRUNE2
PYGL PYGM RIPK3 SERPIND1 SGSH SLC12A6 SLC17A5 SLC2A2 SLC37A4
SMPD1 SOX6 SP4 SUMF1 TDRD7 TPP1 USP6NL VCAN WNK1
Panel Name Related Diseases Gene List
Metabolic Disorders
Panel
(103 genes, 138.3 Kb)
Inborn errors of matabolism AARS ABCA13 ABCB11 ABCD1 ACAD8 ACADM ACADS ACADSB ACADVL
ACAT1 AHCY ARG1 ARHGAP35 ASL ASS1 AUH BCKDHA BCKDHB
BTD CBS COG1 COL4A4 CPNE1 CPS1 CPT1A CPT2 DBT
DECR1 DHCR7 DLD DNMT1 ETFA ETFB ETFDH EVC FAH
FERMT1 FREM2 GALE GALK1 GALT GAMT GATM GCDH GCH1
GNMT GRM1 HADH HADHA HADHB HLCS HMGCL HPD HPSE2
HSD17B10 IL12RB2 IVD KIAA1244 L2HGDH LAMA3 LMBRD1 MAT1A MCCC1
MCCC2 MLYCD MMAA MMAB MMACHC MMADHC MMUT MTHFR MTR
MTRR NDUFV3 NPHS2 OPA3 OTC PAH PCBD1 PCCA PCCB
PCNXL2 PDP1 PRUNE2 PTS QDPR RIPK3 SERPIND1 SLC12A6 SLC22A5
SLC25A13 SLC25A20 SLC6A8 SOX6 SP4 SUMF1 TAT TAZ TCN2
TDRD7 USP6NL VCAN WNK1
Panel Name Related Diseases Gene List
Myeloid Leukemia
Panel
(83 genes, 94.8 Kb)
Acute myeloid
leukemia
AARS ABCA13 ABCB11 AMELX AMELY ANKRD26 ARHGAP35 ASXL1 ATRX
BCOR BCORL1 BRAF CALR CBL CBLB CEBPA COG1 COL4A4
CPNE1 CSF3R DDX41 DNMT1 DNMT3A ETV6 EVC EZH2 FERMT1
FLT3 FREM2 GATA1 GATA2 GRM1 HPSE2 HRAS IDH1 IDH2
IL12RB2 JAK2 JAK3 KDM6A KIAA1244 KIT KRAS L2HGDH LAMA3
MPL NDUFV3 NOTCH1 NPHS2 NPM1 NRAS PCNXL2 PDGFRA PDP1
PHF6 PPM1D PRUNE2 PTPN11 RAD21 RIPK3 RUNX1 SERPIND1 SETBP1
SF3B1 SLC12A6 SMC1A SMC3 SOX6 SP4 SRSF2 STAG1 STAG2
STAT3 SUMF1 TDRD7 TET2 TP53 U2AF1 USP6NL VCAN WNK1
WT1 ZRSR2              
Panel Name Related Diseases Gene List
Neuromuscular Panel
(320 genes, 1,160 Kb)
Neuromuscular
disease
AARS ABCA13 ABCB11 ABCB7 ABCD1 ABHD12 ACAD9 ACADL ACADM
ACO2 ACTA1 ADCK3 AFG3L2 AGL AIFM1 ALDH3A2 AMPD1 ANO10
ANO5 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APTX ARHGAP35 ARSA
ATCAY ATL1 ATM ATP2A1 ATP7A ATP7B ATP8A2 BAG3 BEAN1
BIN1 BSCL2 C10orf2 C12orf65 C19orf12 CACNA1A CACNA1S CACNB4 CAPN3
CASK CAV3 CCDC78 CCDC88C CFL2 CHAT CHRNA1 CHRNB1 CHRND
CHRNE CHRNG CLCN1 CLCN2 CLN5 CNTN1 COG1 COL4A4 COL6A1
COL6A2 COL6A3 COLQ CPNE1 CPT1B CPT2 CRYAB CTDP1 CWF19L1
CYP27A1 CYP2U1 CYP7B1 DAG1 DCTN1 DDHD1 DDHD2 DES DMD
DNAJB2 DNAJB6 DNM2 DNMT1 DOK7 DYNC1H1 DYSF EEF2 EGR2
ELOVL4 ELOVL5 EMD ERLIN2 ETFA ETFB EVC FA2H FAM134B
FERMT1 FGD4 FGF14 FHL1 FIG4 FKRP FKTN FLNC FLVCR1
FREM2 FRMD7 FUS FXN GAA GAD1 GALC GAN GARS
GBA2 GDAP1 GJB1 GJC2 GLA GLE1 GNB4 GNE GOSR2
GPR143 GRID2 GRM1 GYS1 HADHA HADHB HINT1 HOXD10 HPSE2
HSPB1 HSPB8 HSPD1 HSPG2 IGHMBP2 IKBKAP IL12RB2 ISPD ITGA7
ITPR1 JPH3 KBTBD13 KCNA1 KCNC3 KCND3 KCNE3 KCNJ10 KCNJ18
KIAA0196 KIAA1244 KIF1A KIF1B KIF1C KIF5A KLHL40 KLHL41 L1CAM
L2HGDH LAMA1 LAMA2 LAMA3 LARGE LDB3 LITAF LMNA LPIN1
LRSAM1 MARS MARS2 MATR3 MED25 MFN2 MPZ MRE11A MTM1
MTMR14 MTMR2 MTPAP MTTP MUSK MYF6 MYH2 MYH7 MYOT
NDRG1 NDUFV3 NEB NEFL NGF NIPA1 NOP56 NPHS2 NTRK1
OPA1 OPA3 OPHN1 PABPN1 PANK2 PCNXL2 PDK3 PDP1 PDYN
PEX7 PFKM PGAM2 PHKA1 PHYH PLEC PLEKHG5 PLP1 PMM2
PMP22 PNKP PNPLA6 POLG POLG2 POMGNT1 POMT1 POMT2 PRKCG
PRPS1 PRUNE2 PRX PTF1A PTRF PYGM RAB7A RAPSN REEP1
RIPK3 RNF216 RRM2B RTN2 RUBCN RYR1 RYR2 SACS SBF2
SCN4A SCN9A SEPN1 SERPIND1 SETX SGCA SGCB SGCD SGCE
SGCG SH3TC2 SIL1 SLC12A6 SLC16A2 SLC1A3 SLC33A1 SLC39A4 SLC52A2
SLC9A1 SLC9A6 SMN1 SNX14 SOD1 SOX6 SP4 SPAST SPG11
SPG20 SPG21 SPG7 SPTBN2 SPTLC1 SPTLC2 STAC3 STUB1 SUCLA2
SUMF1 SYNE1 SYNE2 SYT14 TBP TCAP TDP1 TDRD7 TECPR2
TGM6 TK2 TMEM240 TNNI2 TNNT1 TPM2 TPM3 TPP1 TRIM32
TRPV4 TTBK2 TTN TTPA TTR TUBB4A TYMP USP6NL VAMP1
VCAN VCP VLDLR VPS13A VPS37A VRK1 WFS1 WNK1 WWOX
XK YARS ZFYVE26 ZFYVE27 ZNF592        
Panel Name Related Diseases Gene List
RASopathy Panel
(14 genes, 37.5 Kb)
RASopathies BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11
RAF1 RIT1 SHOC2 SOS1 SPRED1
Panel Name Related Diseases Gene List
Retinitis Pigmentosa
Panel
(111 genes, 325.3 Kb)
Retinitis pigmentosa ABCA4 ABHD12 ADAM9 ADGRA3 AGBL5 AIPL1 ARHGEF18 ARL2BP ARL3
ARL6 BBS1 BBS2 BEST1 C2orf71 C8orf37 CA4 CABP4 CACNA1F
CACNA2D4 CDHR1 CERKL CLRN1 CNGA1 CNGB1 CNGB3 CNNM4 CRB1
CRX CWC27 CYP4V2 DHDDS DHX38 ELOVL4 EMC1 EYS FAM161A
FLVCR1 FSCN2 GNAT2 GUCA1A GUCA1B GUCY2D HGSNAT HK1 IDH3B
IFT140 IFT172 IMPDH1 IMPG2 KCNV2 KIAA1549 KIZ KLHL7 LRAT
MAK MERTK MVK NEK2 NEUROD1 NR2E3 NRL OFD1 PDE6A
PDE6B PDE6C PDE6G PDE6H PITPNM3 POMGNT1 PRCD PRKCG PROM1
PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAB28 RAX2 RBP3
RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1
ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SEMA4A
SLC7A14 SNRNP200 SPATA7 SPP2 TOPORS TRNT1 TTC8 TULP1 UNC119
USH2A ZNF408 ZNF513
Panel Name Related Diseases Gene List
Short Stature Panel
(192 genes, 616.1 Kb)
Short stature AARS ABCA13 ABCB11 ACTA2 ADAMTS10 ADAMTS2 ADAMTSL4 AGPS ALPL
ARHGAP35 ARSE ATP6V0A2 ATP7A ATRX B3GALT6 B4GALT7 BGN BLM
BRAF CBL CBS CDC6 CDT1 CHST14 COG1 COL10A1 COL11A1
COL1A1 COL1A2 COL2A1 COL3A1 COL4A4 COL5A1 COL5A2 COL9A1 COL9A2
COL9A3 COMP CPNE1 CREBBP CRTAP CTSK CUL7 DHCR7 DLL3
DNMT1 DYNC2H1 DYRK1A EBP EFEMP2 ELN EP300 ERCC6 ERCC8
EVC EVC2 EXT1 EXT2 FBLN5 FBN1 FBN2 FERMT1 FGD1
FGF23 FGFR1 FGFR2 FGFR3 FKBP10 FLNA FLNB FOXE3 FREM2
GH1 GHR GHRHR GLI2 GLI3 GNAS GNPAT GRM1 HESX1
HPSE2 HRAS HSPG2 IFITM5 IFT80 IGF1 IGF1R IL12RB2 INPPL1
KCNJ2 KCNJ8 KDM6A KIAA1244 KMT2D KRAS L2HGDH LAMA3 LBR
LHX3 LIFR LOX LTBP2 LZTR1 MAP2K1 MAP2K2 MAT2A MATN3
MED12 MFAP5 MYH11 MYLK NBAS NBN NDUFV3 NEK1 NF1
NIPBL NPHS2 NRAS NSDHL OBSL1 ORC1 ORC4 ORC6 P3H1
PCNT PCNXL2 PDP1 PEX7 PHEX PLOD1 POR POU1F1 PPIB
PPP1CB PRKG1 PROP1 PRUNE2 PTPN11 PYCR1 RAF1 RIN2 RIPK3
RIT1 RMRP ROR2 RPS6KA3 RUNX2 SBDS SERPIND1 SERPINH1 SHOC2
SKI SLC12A6 SLC26A2 SLC2A10 SLC34A3 SLC35D1 SLC39A13 SMAD3 SMARCAL1
SMC1A SMC3 SMS SOS1 SOS2 SOX3 SOX6 SOX9 SP4
SPRED1 SRCAP SUMF1 TDRD7 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2
THRB TRIM37 TRIP11 TRPS1 TRPV4 TTC21B USP6NL VCAN WDR19
WDR35 WNK1 WRN            
Panel Name Related Diseases Gene List
Skin Disorder Panel
(152 genes, 545.7 Kb)
Skin diseases ABCA12 ABCB6 ABCC6 ABHD5 ADAMTS2 ADAR ALAD ALAS2 ALDH3A2
ALOX12B ALOXE3 AP1S1 ATM ATP2A2 ATP2C1 ATP6V0A2 BLM CARD14
CDH3 CDSN CLDN1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
COL7A1 CPOX CTC1 CTSC CYP4F22 DDB2 DKC1 DOCK8 DSG1
DSG4 DSP DST EBP ECM1 EDA EDAR EDARADD EFEMP2
ELN ERCC2 ERCC3 ERCC4 ERCC5 EXPH5 FANCA FANCC FANCG
FECH FERMT1 FLCN FLG GJB2 GJB3 GJB4 GJB6 GNAS
GORAB GPR143 GSN GTF2H5 HFE HMBS HR IL36RN ITGA3
ITGA6 ITGB4 JUP KIT KRT1 KRT10 KRT14 KRT16 KRT17
KRT2 KRT5 KRT6A KRT6B KRT6C KRT81 KRT83 KRT86 KRT9
LAMA3 LAMB3 LAMC2 LIPH LIPN LOR LPAR6 LYST MBTPS2
NF1 NF2 NHP2 NIPAL4 NOP10 NSDHL OCA2 PKP1 PLEC
PLOD1 PNPLA1 POFUT1 POGLUT1 POLH POMP PPOX PRKAR1A PTCH1
PTCH2 PYCR1 RECQL4 RTEL1 SLC27A4 SLC39A4 SLC45A2 SLURP1 SNAP29
SPINK5 SPRED1 ST14 STAT3 STS SUFU TERC TERT TGM1
TGM5 TINF2 TNXB TRPV3 TSC1 TSC2 TTR TYK2 TYR
TYRP1 UROD UROS WAS WRAP53 XPA XPC ZMPSTE24
Panel Name Related Diseases Gene List
Solid Tumor Panel
(60 genes, 109.4 Kb)
Somatic cancer
ABL1 AKT1 ALK APC ATM BRAF BRCA1 BRCA2 CDH1
CDKN2A CSF1R CTNNB1 DLC1 EGFR ERBB2 ERBB4 ESR1 FBXW7
FGFR1 FGFR2 FGFR3 FTSJ3 GNA11 GNAQ GNAS HNF1A HRAS
IDH1 IDH2 ITPRID2 JAK2 JAK3 KCNB2 KDR KIT KRAS
MET MLH1 MYC MYCN NOTCH1 NRAS NRXN1 PDGFRA PIK3CA
PTEN PTPN11 RB1 RBAK RET ROS1 SMAD4 SMARCB1 SMO
SMURF1 SRC STK11 TP53 VHL ZNF594      

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Resources

Technical Resources

[Product Sheet] G-Mendeliome Disease-Specific Panel

[Product Overview] Celemics Target Enrichment Panel Overview

[Catalogue] Celemics Products & Service Catalogue_All Products & Service

Safety Data Sheets

MSDS_G-Mendeliome Disease-Specific Panels_Illumina_Enzymeplus

MSDS_G-Mendeliome Disease-Specific Panels_Illumina

MSDS_G-Mendeliome Disease-Specific Panels_Thermo Fisher

MSDS_G-Mendeliome Disease-Specific Panels_MGI_EnzymePlus

MSDS_G-Mendeliome Disease-Specific Panels_MGI

References

International Journal of Molecular Sciences

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant

Kim KH, Han JY, Park J, Cho JS. The first Korean case with cardiac, facial, and digital anomalies with developmental delay caused by DE Novo TRAF7 p.Arg655Gln variant. Int J Mol Sci. 2024;25(7):3701.

 

10.3390/ijms25073701


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Annals of Pediatric Endocrinology & Metabolism

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience

Kim SJ, Joo E, Park J, Seol CA, Lee J-E. Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience. Ann Pediatr Endocrinol Metab. 2024;29(1):38–45

 

10.6065/apem.2346036.018


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Genes

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Han JY, Park J. Paternally inherited Noonan syndrome caused by a PTPN11 variant may exhibit mild symptoms: A case report and literature review. Genes (Basel). 2024;15(4):445.

 

10.3390/genes15040445


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Heliyon

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

Han JY, Park J. Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review. Heliyon. 2024;10(7):e28684.

 

10.1016/j.heliyon.2024.e28684


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