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.
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.
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.
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.
Specification
| Gene count* | 14 - 293 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- (77 genes, 244.8 kb) |
Alzheimer’s disease, Parkinson’s disease, Dementia, Dystonia |
ABCA7 | ADCY5 | ALS2 | ANG | ANO3 | APP | ATP13A2 | ATP1A3 | ATP7B |
| C19orf12 | CACNA1B | CHCHD10 | CHMP2B | CHRNA4 | CIZ1 | COL6A3 | DAO | DCTN1 | ||
| FIG4 | FUS | GBA | GCH1 | GNAL | GNAO1 | GRN | HNRNPA1 | HNRNPA2B1 | ||
| HPCA | KCTD17 | KMT2B | LRRK2 | MAPT | MATR3 | MECR | NEK1 | OPTN | ||
| PANK2 | PARK7 | PINK1 | PLA2G6 | PNKD | PRKN | PRKRA | PRNP | PRRT2 | ||
| PSEN1 | PSEN2 | RELN | SETX | SGCE | SIGMAR1 | SLC19A3 | SLC2A1 | SLC30A10 | ||
| SLC6A3 | SNCA | SOD1 | SORL1 | SPG11 | SQSTM1 | SRY | TAF1 | TAF15 | ||
| TARDBP | TBK1 | TH | THAP1 | TIMM8A | TOR1A | TREM2 | TUBA4A | TUBB4A | ||
| UBQLN2 | VAC14 | VAPB | VCP | VPS13A | ||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Bleeding Disorder- Coagulopathy Panel (115 genes, 326.3 Kb) |
Bleeding Disorder, Coagulation |
ABCA1 | ACTN1 | ANKRD26 | ANO6 | AP3B1 | BLOC1S3 | BLOC1S6 | BRCA1 | BRCA2 |
| BRIP1 | CD36 | CDAN1 | CYCS | DDX41 | DKC1 | DTNBP1 | ELANE | ERCC4 | ||
| ETV6 | F10 | F11 | F13A1 | F13B | F2 | F5 | F7 | F8 | ||
| F9 | FANCA | FANCB | FANCC | FANCD2 | FANCE | FANCF | FANCG | FANCI | ||
| FANCL | FANCM | FERMT2 | FGA | FGB | FGG | FLI1 | FYB1 | GATA1 | ||
| GATA2 | GFI1 | GFI1B | GP1BA | GP1BB | GP6 | GP9 | HAX1 | HOXA11 | ||
| HPS1 | HPS3 | HPS4 | HPS5 | HPS6 | IFNG | ITGA2B | ITGB3 | LMAN1 | ||
| LYST | MASTL | MCFD2 | MLPH | MPL | MYH9 | MYO5A | NBEAL2 | NBN | ||
| NHP2 | NOP10 | P2RY12 | PALB2 | PLA2G4A | PLAU | PRF1 | PRKACG | RAB27A | ||
| RAD51C | RASGRP2 | RBM8A | RPL11 | RPL35A | RPL5 | RPS10 | RPS19 | RPS24 | ||
| RPS26 | RPS7 | RUNX1 | SBDS | SEC23B | SERPINE1 | SERPINF2 | SLFN14 | SLX4 | ||
| SRC | SRP72 | SRY | STIM1 | TBXA2R | TBXAS1 | TERC | TERT | TINF2 | ||
| UBE2T | VIPAS39 | VPS33B | VWF | WAS | WIPF1 | XRCC2 | ||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Cardiovascular Panel (174 genes, 681.3 Kb) |
Cardiac diseases | ABCC9 | ABCG5 | ABCG8 | ACTA1 | ACTA2 | ACTC1 | ACTN2 | AKAP9 | ALMS1 |
| ANK2 | ANKRD1 | APOA4 | APOA5 | APOB | APOC2 | APOE | BAG3 | BRAF | ||
| CACNA1C | CACNA2D1 | CACNB2 | CALM1 | CALR3 | CASQ2 | CAV3 | CBL | CBS | ||
| CETP | COL3A1 | COL5A1 | COL5A2 | COX15 | CREB3L3 | CRELD1 | CRYAB | CSRP3 | ||
| CTF1 | DES | DMD | DNAJC19 | DOLK | DPP6 | DSC2 | DSG2 | DSP | ||
| DTNA | EFEMP2 | ELN | EMD | EYA4 | FBN1 | FBN2 | FHL1 | FHL2 | ||
| FKRP | FKTN | FXN | GAA | GATAD1 | GCKR | GJA5 | GLA | GPD1L | ||
| GPIHBP1 | HADHA | HCN4 | HFE | HRAS | HSPB8 | ILK | JAG1 | JPH2 | ||
| JUP | KCNA5 | KCND3 | KCNE1 | KCNE2 | KCNE3 | KCNH2 | KCNJ2 | KCNJ5 | ||
| KCNJ8 | KCNQ1 | KLF10 | KRAS | LAMA2 | LAMA4 | LAMP2 | LDB3 | LDLR | ||
| LDLRAP1 | LMF1 | LMNA | LPL | LTBP2 | MAP2K1 | MAP2K2 | MIB1 | MURC | ||
| MYBPC3 | MYH11 | MYH6 | MYH7 | MYL2 | MYL3 | MYLK | MYLK2 | MYO6 | ||
| MYOZ2 | MYPN | NEXN | NKX2-5 | NODAL | NOTCH1 | NPPA | NRAS | PCSK9 | ||
| PDLIM3 | PKP2 | PLN | PRDM16 | PRKAG2 | PRKAR1A | PTPN11 | RAF1 | RANGRF | ||
| RBM20 | RYR1 | RYR2 | SALL4 | SCN1B | SCN2B | SCN3B | SCN4B | SCN5A | ||
| SCO2 | SDHA | SEPN1 | SGCB | SGCD | SGCG | SHOC2 | SLC25A4 | SLC2A10 | ||
| SMAD3 | SMAD4 | SNTA1 | SOS1 | SREBF2 | TAZ | TBX20 | TBX3 | TBX5 | ||
| TCAP | TGFB2 | TGFB3 | TGFBR1 | TGFBR2 | TMEM43 | TMPO | TNNC1 | TNNI3 | ||
| TNNT2 | TPM1 | TRDN | TRIM63 | TRPM4 | TTN | TTR | TXNRD2 | VCL | ||
| ZBTB17 | ZHX3 | ZIC3 | ||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Common Hereditary Cancer Panel (61 genes, 218 Kb) |
Medical checkup | APC | ATM | ATRX | BARD1 | BMPR1A | BRAF | BRCA1 | BRCA2 | BRIP1 |
| CDH1 | CDKN2A | CHEK2 | EGLN1 | EGLN2 | EPAS1 | EPCAM | FGFR1 | FH | ||
| H3F3A | HRAS | IDH2 | KIF1B | KMT2D | MAX | MDH2 | MEN1 | MERTK | ||
| MET | MLH1 | MRE11 | MSH2 | MSH6 | MUTYH | NBN | NF1 | NF2 | ||
| PALB2 | PMS2 | POLD1 | POLE | PRSS1 | PTEN | RAD50 | RAD51C | RAD51D | ||
| RB1 | RET | SDHA | SDHAF2 | SDHB | SDHC | SDHD | SMAD4 | SPINK1 | ||
| STK11 | TMEM127 | TP53 | TSC1 | TSC2 | VHL | WT1 | ||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Epilepsy Panel (119 genes, 401.6 Kb) |
Epilepsy | AARS | ADGRV1 | ADSL | ALDH7A1 | ALG13 | ARHGEF15 | ARHGEF9 | ARX | ASAH1 |
| ATP1A2 | ATP6AP2 | CACNA1A | CASK | CDKL5 | CHD2 | CHRNA2 | CHRNA4 | CHRNA7 | ||
| CHRNB2 | CLCN4 | CLN3 | CLN5 | CLN6 | CLN8 | CNTNAP2 | CSTB | CTSD | ||
| DCX | DEPDC5 | DLG3 | DNAJC5 | DNM1 | DOCK7 | DYRK1A | EEF1A2 | EPM2A | ||
| FOLR1 | FOXG1 | GABRA1 | GABRA2 | GABRB3 | GABRG2 | GAMT | GATM | GNAO1 | ||
| GOSR2 | GRIN1 | GRIN2A | GRIN2B | HCN1 | HDAC4 | HNRNPU | IQSEC2 | KANSL1 | ||
| KCNA2 | KCNB1 | KCNH5 | KCNJ10 | KCNMA1 | KCNQ2 | KCNQ3 | KCNT1 | KCTD7 | ||
| LGI1 | MAGI2 | MBD5 | MECP2 | MEF2C | MFSD8 | NECAP1 | NHLRC1 | NR2F1 | ||
| NRXN1 | PCDH19 | PIGA | PIGO | PIGQ | PIGV | PLCB1 | PNKP | PNPO | ||
| POLG | PPT1 | PRICKLE1 | PRICKLE2 | PRRT2 | QARS | RELN | SCARB2 | SCN1A | ||
| SCN1B | SCN2A | SCN8A | SCN9A | SLC13A5 | SLC25A22 | SLC2A1 | SLC35A2 | SLC6A8 | ||
| SLC9A6 | SMS | SPTAN1 | SRPX2 | SRY | ST3GAL3 | STXBP1 | SYN1 | SYNGAP1 | ||
| SYNJ1 | SZT2 | TBC1D24 | TCF4 | TPP1 | TSC1 | TSC2 | UBE3A | WDR45 | ||
| WWOX | ZEB2 | |||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Hearing Loss-Deafness Panel (30 genes, 130.3 Kb) |
Hearing loss, Deafness |
CDH23 | CLRN1 | COCH | COL11A1 | COL2A1 | DIAPH1 | EDNRB | EYA1 | GJB2 |
| GJB6 | KCNE1 | KCNQ1 | KCNQ4 | MITF | MYO15A | MYO7A | OTOF | PAX3 | ||
| POU3F4 | SIX5 | SLC26A4 | SNAI2 | SOX10 | TECTA | TMC1 | TMIE | TMPRSS3 | ||
| USH1C | USH2A | WFS1 | ||||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Lymphoid Leukemia Panel (62 genes, 139.9 Kb) |
Acute lymphatic leukemia |
ABL1 | AMELX | AMELY | ARHGAP35 | BRAF | BTG1 | CDKN2A | COL4A4 | CPNE1 |
| CREBBP | CRLF2 | DNM2 | DNMT3A | EP300 | ETV6 | EZH2 | FBXW7 | FLT3 | ||
| GATA3 | IDH1 | IDH2 | IKZF1 | IL7R | JAK1 | JAK2 | JAK3 | KDM6A | ||
| KIAA1244 | KMT2A | KMT2D | KRAS | LEF1 | LMO1 | MAPK1 | NF1 | NOTCH1 | ||
| NRAS | NSD2 | NT5C2 | NUDT15 | PAX5 | PCNXL2 | PHF6 | PRUNE2 | PTEN | ||
| PTPN11 | RB1 | RIPK3 | RUNX1 | SETD2 | SH2B3 | SP4 | SRY | STAG2 | ||
| STAT3 | STAT5B | TBL1XR1 | TCF3 | TP53 | TPMT | USP6NL | WT1 |
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Lymphoma Panel (51 genes, 118.3 Kb) |
Lymphoma | ALK | ATM | B2M | BCL6 | BIRC3 | BRAF | BTK | CARD11 | CD79A |
| CD79B | CREBBP | CXCR4 | EGR2 | EP300 | EZH2 | FAS | FAT4 | FBXO11 | ||
| ID3 | IDH2 | IKBKB | IKZF1 | JAK3 | KLF2 | MYC | MYD88 | NFKBIE | ||
| NOTCH1 | NOTCH2 | PLCG1 | PLCG2 | POT1 | PRDM1 | RHOA | RPS15 | RRAGC | ||
| SF3B1 | SOCS1 | SRY | STAT3 | STAT5B | TBL1XR1 | TCF3 | TET2 | TNFAIP3 | ||
| TNFRSF14 | TP53 | TP63 | TRAF3 | UBR5 | XPO1 | |||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Lysosomal Storage Diseases Panel (86 genes, 195.9 Kb) |
Lysosomal storage disease |
ABCD1 | ACOX1 | AGA | AGL | ALDOA | ALDOB | ARSA | ARSB | ATP13A2 |
| ATP7A | ATP7B | CLN3 | CLN5 | CLN6 | CLN8 | CTNS | CTSA | CTSD | ||
| CTSF | DNAJC5 | FUCA1 | G6PC | GAA | GALC | GALE | GALK1 | GALK2 | ||
| GALNS | GALT | GBA | GBE1 | GJB2 | GLA | GLB1 | GNPTAB | GNPTG | ||
| GNS | GRN | GUSB | GYS1 | GYS2 | HEXA | HEXB | HGSNAT | HPRT1 | ||
| HYAL1 | IDS | IDUA | KCTD7 | LDHA | LIPA | MAN2B1 | MANBA | MCOLN1 | ||
| MFSD8 | NAGA | NAGLU | NEU1 | NPC1 | NPC2 | PEX1 | PEX10 | PEX12 | ||
| PEX13 | PEX14 | PEX16 | PEX19 | PEX2 | PEX26 | PEX3 | PEX5 | PEX6 | ||
| PFKM | PHKA2 | PHKB | PHKG2 | PPT1 | PYGL | PYGM | SGSH | SLC17A5 | ||
| SLC2A2 | SLC37A4 | SMPD1 | SUMF1 | TPP1 | ||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Metabolic Disorders Panel (71 genes, 138.3 Kb) |
Inborn errors of matabolism | ABCD1 | ACAD8 | ACADM | ACADS | ACADSB | ACADVL | ACAT1 | AHCY | ARG1 |
| ASL | ASS1 | AUH | BCKDHA | BCKDHB | BTD | CBS | CPS1 | CPT1A | ||
| CPT2 | DBT | DECR1 | DHCR7 | DLD | ETFA | ETFB | ETFDH | FAH | ||
| GALE | GALK1 | GALT | GAMT | GATM | GCDH | GCH1 | GNMT | HADH | ||
| HADHA | HADHB | HLCS | HMGCL | HPD | HSD17B10 | IVD | LMBRD1 | MAT1A | ||
| MCCC1 | MCCC2 | MLYCD | MMAA | MMAB | MMACHC | MMADHC | MMUT | MTHFR | ||
| MTR | MTRR | OPA3 | OTC | PAH | PCBD1 | PCCA | PCCB | PTS | ||
| QDPR | SLC22A5 | SLC25A13 | SLC25A20 | SLC6A8 | TAT | TAZ | TCN2 | |||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Myeloid Leukemia Panel (49 genes, 94.8 Kb) |
Acute myeloid leukemia |
ANKRD26 | ASXL1 | ATRX | BCOR | BCORL1 | BRAF | CALR | CBL | CBLB |
| CEBPA | CSF3R | DDX41 | DNMT3A | ETV6 | EZH2 | FLT3 | GATA1 | GATA2 | ||
| HRAS | IDH1 | IDH2 | JAK2 | JAK3 | KDM6A | KIT | KRAS | MPL | ||
| NOTCH1 | NPM1 | NRAS | PDGFRA | PHF6 | PPM1D | PTPN11 | RAD21 | RUNX1 | ||
| SETBP1 | SF3B1 | SMC1A | SMC3 | SRSF2 | STAG1 | STAG2 | STAT3 | TET2 | ||
| TP53 | U2AF1 | WT1 | ZRSR2 | |||||||
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Neuromuscular Panel (293 genes, 1,160 Kb) |
Neuromuscular disease |
AARS | ABCB7 | ABCD1 | ABHD12 | ACAD9 | ACADL | ACADM | ACO2 | ACTA1 |
| ADCK3 | AFG3L2 | AGL | AIFM1 | ALDH3A2 | AMPD1 | ANO10 | ANO5 | AP4B1 | ||
| AP4E1 | AP4M1 | AP4S1 | AP5Z1 | APTX | 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 | COL6A1 | COL6A2 | COL6A3 | COLQ | 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 | ||
| FA2H | FAM134B | FGD4 | FGF14 | FHL1 | FIG4 | FKRP | FKTN | FLNC | ||
| FLVCR1 | 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 | HSPB1 | ||
| HSPB8 | HSPD1 | HSPG2 | IGHMBP2 | IKBKAP | ISPD | ITGA7 | ITPR1 | JPH3 | ||
| KBTBD13 | KCNA1 | KCNC3 | KCND3 | KCNE3 | KCNJ10 | KCNJ18 | KIAA0196 | KIF1A | ||
| KIF1B | KIF1C | KIF5A | KLHL40 | KLHL41 | L1CAM | LAMA1 | LAMA2 | LARGE | ||
| LDB3 | LITAF | LMNA | LPIN1 | LRSAM1 | MARS | MARS2 | MATR3 | MED25 | ||
| MFN2 | MPZ | MRE11A | MTM1 | MTMR14 | MTMR2 | MTPAP | MTTP | MUSK | ||
| MYF6 | MYOT | NDRG1 | NEB | NEFL | NGF | NIPA1 | NOP56 | NTRK1 | ||
| OPA1 | OPA3 | OPHN1 | PABPN1 | PANK2 | PDK3 | PDYN | PEX7 | PFKM | ||
| PGAM2 | PHKA1 | PHYH | PLEC | PLEKHG5 | PLP1 | PMM2 | PMP22 | PNKP | ||
| PNPLA6 | POLG | POLG2 | POMGNT1 | POMT1 | POMT2 | PRKCG | PRPS1 | PRX | ||
| PTF1A | PTRF | PYGM | RAB7A | RAPSN | REEP1 | RNF216 | RRM2B | RTN2 | ||
| RUBCN | RYR1 | RYR2 | SACS | SBF2 | SCN4A | SCN9A | SEPN1 | SETX | ||
| SGCA | SGCB | SGCD | SGCE | SGCG | SH3TC2 | SIL1 | SLC12A6 | SLC16A2 | ||
| SLC1A3 | SLC33A1 | SLC39A4 | SLC52A2 | SLC9A1 | SLC9A6 | SMN1 | SNX14 | SOD1 | ||
| SPAST | SPG11 | SPG20 | SPG21 | SPG7 | SPTBN2 | SPTLC1 | SPTLC2 | STAC3 | ||
| STUB1 | SUCLA2 | SYNE1 | SYNE2 | SYT14 | TBP | TCAP | TDP1 | TECPR2 | ||
| TGM6 | TK2 | TMEM240 | TNNI2 | TNNT1 | TPM2 | TPM3 | TPP1 | TRIM32 | ||
| TRPV4 | TTBK2 | TTN | TTPA | TTR | TUBB4A | TYMP | VAMP1 | 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 (162 genes, 616.1 Kb) |
Short stature | ACTA2 | ADAMTS10 | ADAMTS2 | ADAMTSL4 | AGPS | ALPL | ARSE | ATP6V0A2 | ATP7A |
| ATRX | B3GALT6 | B4GALT7 | BGN | BLM | BRAF | CBL | CBS | CDC6 | ||
| CDT1 | CHST14 | COL10A1 | COL11A1 | COL1A1 | COL1A2 | COL2A1 | COL3A1 | COL5A1 | ||
| COL5A2 | COL9A1 | COL9A2 | COL9A3 | COMP | CREBBP | CRTAP | CTSK | CUL7 | ||
| DHCR7 | DLL3 | DYNC2H1 | DYRK1A | EBP | EFEMP2 | ELN | EP300 | ERCC6 | ||
| ERCC8 | EVC | EVC2 | EXT1 | EXT2 | FBLN5 | FBN1 | FBN2 | FGD1 | ||
| FGF23 | FGFR1 | FGFR2 | FGFR3 | FKBP10 | FLNA | FLNB | FOXE3 | GH1 | ||
| GHR | GHRHR | GLI2 | GLI3 | GNAS | GNPAT | HESX1 | HRAS | HSPG2 | ||
| IFITM5 | IFT80 | IGF1 | IGF1R | INPPL1 | KCNJ2 | KCNJ8 | KDM6A | KMT2D | ||
| KRAS | LBR | LHX3 | LIFR | LOX | LTBP2 | LZTR1 | MAP2K1 | MAP2K2 | ||
| MAT2A | MATN3 | MED12 | MFAP5 | MYH11 | MYLK | NBAS | NBN | NEK1 | ||
| NF1 | NIPBL | NRAS | NSDHL | OBSL1 | ORC1 | ORC4 | ORC6 | P3H1 | ||
| PCNT | PEX7 | PHEX | PLOD1 | POR | POU1F1 | PPIB | PPP1CB | PRKG1 | ||
| PROP1 | PTPN11 | PYCR1 | RAF1 | RIN2 | RIT1 | RMRP | ROR2 | RPS6KA3 | ||
| RUNX2 | SBDS | SERPINH1 | SHOC2 | SKI | SLC26A2 | SLC2A10 | SLC34A3 | SLC35D1 | ||
| SLC39A13 | SMAD3 | SMARCAL1 | SMC1A | SMC3 | SMS | SOS1 | SOS2 | SOX3 | ||
| SOX9 | SPRED1 | SRCAP | SRY | TGFB1 | TGFB2 | TGFB3 | TGFBR1 | TGFBR2 | ||
| THRB | TRIM37 | TRIP11 | TRPS1 | TRPV4 | TTC21B | WDR19 | WDR35 | 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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References
Scientific Reports
Multiplex-PCR technique to predict polymorphic antigens – M, N, S and s – and associations between their alleles and Mia-associated hybrid glycophorins
Kerdthip, T., Nathalang, O., Chidtrakoon, S., Choychimplee, T., Apipongrat, D., & Intharanut, K. (2025). Multiplex-PCR technique to predict polymorphic antigens–M, N, S and s–and associations between their alleles and Mia-associated hybrid glycophorins. Scientific Reports, 15(1), 2815.
10.1038/s41598-025-86179-5
European Journal of Pediatrics
Phenotypic variability in cases with CACNA1A mutation
Bozkaya-Yilmaz, S., Olgac-Dundar, N., Aliyeva, N., Ersen, A., Gencpinar, P., Gungor, M., … & Kara, B. (2025). Phenotypic variability in cases with CACNA1A mutation. European Journal of Pediatrics, 184(4), 261.
10.1007/s00431-025-06062-3
Molecular Sciences
Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis
Kanwal, A., Zulfiqar, R., Cheema, H. A., Jabbar, N., Iftikhar, A., Butt, A. I., … & Naz, S. (2025). Rare Homozygous Variants in INSR and NFXL1 Are Associated with Severe Treatment-Resistant Psychosis. International Journal of Molecular Sciences, 26(10), 4925.
10.3390/ijms26104925
Diagnostics
Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam
Tran, T. A. T., Dien, T. M., Nguyen, N. L., Nguyen, K. N., Can, T. B. N., Thao, B. P., … & Vu, C. D. (2025). Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam. Diagnostics, 15(7), 918.
10.3390/diagnostics15070918