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* | Ranges from 14 to 293 genes |
|---|---|
| Covered region | Whole CDS, hotspots |
| Target size | 37-1,159 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.
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| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Alzheimer-Parkinson- Dementia Panel |
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 | |||||||||
| Bleeding Disorder- Coagulopathy Panel |
Bleeding Disorder, Coagulation |
AARS | ABCA1 | ABCA13 | ABCB11 | ACTN1 | ANKRD26 | ANO6 | AP3B1 | BLOC1S3 |
| BLOC1S6 | BRCA1 | BRCA2 | BRIP1 | CD36 | CDAN1 | COG1 | COL4A4 | CYCS | ||
| DDX41 | DKC1 | DNMT1 | DTNBP1 | ELANE | ERCC4 | ETV6 | EVC | F10 | ||
| FREM2 | FUS | GBA | GCH1 | GNAL | GNAO1 | GRM1 | GRN | HNRNPA1 | ||
| 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 | L2HGDH | LAMA3 | LMAN1 | LYST | MASTL | MCFD2 | MLPH | ||
| MPL | MYH9 | MYO5A | NBEAL2 | NBN | NDUFV3 | NHP2 | NOP10 | NPHS2 | ||
| P2RY12 | PALB2 | PDP1 | PLA2G4A | PLAU | PRF1 | PRKACG | RAB27A | RAD51C | ||
| RASGRP2 | RBM8A | RPL11 | RPL35A | RPL5 | RPS10 | RPS19 | RPS24 | RPS26 | ||
| RPS7 | RUNX1 | SBDS | SEC23B | SERPIND1 | SERPINE1 | SERPINF2 | SLC12A6 | SLFN14 | ||
| SLX4 | SOX6 | SRC | SRP72 | SRY | STIM1 | SUMF1 | TBXA2R | TBXAS1 | ||
| TDRD7 | TERC | TERT | TINF2 | UBE2T | VCAN | VIPAS39 | VPS33B | VWF | ||
| WAS | WIPF1 | WNK1 | XRCC2 | |||||||
| Cardiovascular Panel | 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 | ZHX3 | ||||||||
| Common Hereditary Cancer Panel |
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 | ||||
| Epilepsy Panel | Epilepsy | AARS | ABCA13 | ABCB11 | ADGRV1 | ADSL | ALDH7A1 | ALG13 | ARHGEF15 | ARHGEF9 |
| ARX | ASAH1 | ATP1A2 | ATP6AP2 | CACNA1A | CASK | CDKL5 | CHD2 | CHRNA2 | ||
| CHRNA4 | CHRNA7 | CHRNB2 | CLCN4 | CLN3 | CLN5 | CLN6 | CLN8 | CNTNAP2 | ||
| COG1 | COL4A4 | 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 | L2HGDH | LAMA3 | LGI1 | MAGI2 | MBD5 | MECP2 | MEF2C | ||
| MFSD8 | NDUFV3 | NECAP1 | NHLRC1 | NPHS2 | NR2F1 | NRXN1 | PCDH19 | PDP1 | ||
| PIGA | PIGO | PIGQ | PIGV | PLCB1 | PNKP | PNPO | POLG | PPT1 | ||
| PRICKLE1 | PRICKLE2 | PRRT2 | QARS | RELN | SCARB2 | SCN1A | SCN1B | SCN2A | ||
| SCN8A | SCN9A | SERPIND1 | SLC12A6 | SLC13A5 | SLC25A22 | SLC2A1 | SLC35A2 | SLC6A8 | ||
| SLC9A6 | SMS | SOX6 | SPTAN1 | SRPX2 | SRY | ST3GAL3 | STXBP1 | SUMF1 | ||
| SYN1 | SYNGAP1 | SYNJ1 | SZT2 | TBC1D24 | TCF4 | TDRD7 | TPP1 | TSC1 | ||
| TSC2 | UBE3A | VCAN | WDR45 | WNK1 | WWOX | ZEB2 | ||||
02
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Hearing Loss-Deafness Panel |
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 | ||||||||
| Lymphoid Leukemia Panel |
Acute lymphatic leukemia |
AARS | ABCA13 | ABCB11 | ABL1 | BRAF | BTG1 | CDKN2A | COG1 | COL4A4 |
| 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 | KMT2A | KMT2D | ||
| KRAS | L2HGDH | LAMA3 | LEF1 | LMO1 | MAPK1 | NDUFV3 | NF1 | NOTCH1 | ||
| NPHS2 | NRAS | NSD2 | NT5C2 | NUDT15 | PAX5 | PDP1 | PHF6 | PTEN | ||
| PTPN11 | RB1 | RUNX1 | SERPIND1 | SETD2 | SH2B3 | SLC12A6 | SOX6 | SRY | ||
| STAG2 | STAT3 | STAT5B | SUMF1 | TBL1XR1 | TCF3 | TDRD7 | TP53 | TPMT | ||
| VCAN | WNK1 | WT1 | ||||||||
| Lymphoma Panel | Lymphoma | AARS | ABCA13 | ABCB11 | ALK | ATM | B2M | BCL6 | BIRC3 | BRAF |
| BTK | CARD11 | CD79A | CD79B | COG1 | COL4A4 | CREBBP | CXCR4 | DNMT1 | ||
| EGR2 | EP300 | EVC | EZH2 | FAS | FAT4 | FBXO11 | FERMT1 | FREM2 | ||
| GRM1 | HPSE2 | ID3 | IDH2 | IKBKB | IKZF1 | IL12RB2 | JAK3 | KLF2 | ||
| L2HGDH | LAMA3 | MYC | MYD88 | NDUFV3 | NFKBIE | NOTCH1 | NOTCH2 | NPHS2 | ||
| PDP1 | PLCG1 | PLCG2 | POT1 | PRDM1 | RHOA | RPS15 | RRAGC | SERPIND1 | ||
| SF3B1 | SLC12A6 | SOCS1 | SOX6 | SRY | STAT3 | STAT5B | SUMF1 | TBL1XR1 | ||
| TCF3 | TDRD7 | TET2 | TNFAIP3 | TNFRSF14 | TP53 | TP63 | TRAF3 | UBR5 | ||
| VCAN | WNK1 | XPO1 | ||||||||
| Lysosomal Storage Diseases Panel |
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 | ||||||
| Metabolic Disorders Panel |
Inborn errors of matabolism 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 | |||
| Myeloid Leukemia Panel |
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 | |||||||
| Neuromuscular Panel | 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 | MYH2 | MYH7 | MYOT | NDRG1 | NEB | NEFL | NGF | N1PA1 | ||
| NOP56 | NTRK1 | OPA1 | OPA3 | OPHN1 | PABPN1 | PANK2 | PDK3 | PDYN | ||
| PEX7 | PFKM | PGAM2 | PHKA1 | PHYH | PLEC | PLEKHG5 | PLP1 | PMM2 | ||
| PMP22 | PNKP | PNPLA6 | POLG | POLH2 | POMGNT1 | POMT1 | POMT2 | PRKCG | ||
| PRPS1 | PRX | PTF1A | PTRF | PYGM | RAB7A | RAPSN | REEP1 | RNF216 | ||
03
| Panel Name | Related Diseases | Gene List | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Neuromuscular Panel | Neuromuscular disease |
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 | ||||||
| RASopathy Panel | RASopathies | BRAF | CBL | HRAS | KRAS | MAP2K1 | MAP2K2 | NF1 | NRAS | PTPN11 |
| RAF1 | RIT1 | SHOC2 | SOS1 | SPRED1 | ||||||
| Retinitis Pigmentosa Panel |
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 | ||||||||
| Short Stature Panel | Short stature | AARS | ABCA13 | ABCB11 | ACTA2 | ADAMTS10 | ADAMTS2 | ADAMTSL4 | AGPS | ALPL |
| ARSE | ATP6V0A2 | ATP7A | ATRX | B3GALT6 | B4GALT7 | BGN | BLM | BRAF | ||
| CBL | CBS | CDC6 | CDT1 | CHST14 | COG1 | COL10A1 | COL11A1 | COL1A1 | ||
| COL1A2 | COL2A1 | COL3A | COL4A4 | COL5A | COL5A2 | COL9A1 | COL9A2 | COL9A3 | ||
| COMP | 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 | 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 | PDP1 | PEX7 | ||
| PHEX | PLOD1 | POR | POU1F1 | PPIB | PPP1CB | PRKG1 | PROP1 | PTPN11 | ||
| PYCR1 | RAF1 | RIN2 | 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 | SPRED1 | SRCAP | SRY | SUMF1 | TDRD7 | TGFB1 | TGFB2 | ||
| TGFB3 | TGFBR1 | TGFBR2 | THRB | TRIM37 | TRIP11 | TRPS1 | TRPV4 | TTC21B | ||
| VCAN | WDR19 | WDR35 | WNK1 | WRN | ||||||
| Skin Disorder Panel | 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 | |||
| Solid Tumor Panel | 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 | 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 | SSFA2 | STK11 | TP53 | VHL | ZNF594 | |||||
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References
BMC Medical Genomics
Clinical and Genetic Analyses and Treatment Experiences of Patients with Lateralized Overgrowth
Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, et al. Clinical and genetic analyses of patients with lateralized overgrowth. BMC Med Genomics. 2022 Sep 30;15(1):206.
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J Atheroscler Thromb
Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020
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DOI 10.5551/jat.63062
Yonsei Med J
Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery
Lee CJ, Choi B, Pak H, Park JM, Lee JH, Lee SH. Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery. Yonsei Med J. 2022 Apr;63(4):342–8.
DOI 10.3349/ymj.2022.63.4.342
Mol Syndromol
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Cinleti T, Yılmaz Uzman C, Akyol Ş, Tüfekçi Ö, Erçal MD, Giray Bozkaya Ö. Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct. Mol Syndromol. 2022 May;13(3):200–5.
DOI 10.1159/000519364