Blood Group--kell System; Kel

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

The Kell blood group system is formed by 2 disulfide-linked proteins, Kell and XK. The Kell protein is a type II membrane glycoprotein sharing sequence homology with members of the M13 family of zinc-dependent metalloproteases and possessing enzymatic activity characteristic of that group (summary by Claperon et al., 2007).The Kell blood group system is highly polymorphic, expressing over 25 antigens that have been classified in to 5 antithetical sets of high and low prevalence antigens with the others being independently expressed or having unknown antithetical partners. The different phenotypes are due to single-nucleotide mutations that result in an amino acid substitution (summary by Sha et al., 2006). See, for example, Kell (designated K or K1)/Cellano (k, K2) (T193M; {613883.0001}).Yu et al. (2001) noted that the Kell antigens are the most potent immunogens aside from the A and B antigens of the ABO system (OMIM ) and the D antigen (OMIM ) of the Rh system (see {111700}).

Genes related to Blood Group--kell System; Kel

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Clinical Features

Phenotypes and symptoms related to Blood Group--kell System; Kel

Anemia
Abnormality of the nervous system
Hemolytic anemia
Acanthocytosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Blood Group--kell System; Kel Is also known as blood group--kell-cellano system.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Blood Group--kell System; Kel Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Kell K/k Antigen (KEL) Genotyping. By ARUP Laboratories, Molecular Genetics and Genomics (United States). KEL Specificity 100 % Genes 100 %
Hemolytic anemia, Kell-system related. By Centogene AG - the Rare Disease Company (Germany). KEL Specificity 100 % Genes 100 %
Kell (K1/K2). By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States). KEL Specificity 100 % Genes 100 %
Kell (K6/K7) (Jsa/Jsb). By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States). KEL Specificity 100 % Genes 100 %
Red Cell Genotyping Panel. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States). RHCE, RHD, SLC14A1, ACKR1, GYPA, GYPB, KEL, BCAM, ART4 Specificity 12 % Genes 100 %
KEL. By Fulgent Genetics Fulgent Genetics (United States). KEL Specificity 100 % Genes 100 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. (United States). BCL6, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA4, SMARCB1, ARID1A, KDM5C, SMO, SNCAIP , (...) View the complete list with 288 more genes Panel complete gene list BCL6, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA4, SMARCB1, ARID1A, KDM5C, SMO, SNCAIP, SOX10, SOX2, SOX9, SPOP, SPTA1, SRC, BTG1, BTK, STAG2, STAT3, STAT4, STK11, AURKB, AURKA, SYK, TAF1, TBX3, HNF1A, TERC, TERT, TGFBR2, NKX2-1, TNFAIP3, TNFRSF14, FAS, MED12, TOP1, TOP2A, TP53, TSC1, TSC2, U2AF1, KDM6A, VEGFA, VHL, CCN6, WT1, XPO1, ZNF217, KAT6A, IKZF1, BRD4, CTCF, KMT2C, CIC, NSD1, CRLF2, IKBKE, RUNX1T1, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CARD11, SUFU, FBXW7, CDC73, FRS2, CD79A, CD79B, DICER1, ACVR1B, CDH1, SPEN, CDH4, CD274, CDK4, CDK6, CDK8, CDKN1A, ADGRA2, CDKN1B, CDKN2A, CDKN2B, CDKN2C, ARID2, ARID1B, EMSY, ERRFI1, ASXL1, CEBPA, SETD2, RNF43, KLHL6, PDCD1LG2, MAGI2, CHD2, CHEK1, SOCS1, BRIP1, FANCL, ZBTB2, BCOR, QKI, PREX2, KEAP1, CREBBP, CRKL, CDK12, CSF1R, TENT5C, DOT1L, CTNNA1, CTNNB1, CUL3, BCORL1, CYLD, ZNF703, TET2, PALB2, DAXX, AMER1, DDR2, FLCN, GID4, RICTOR, NUP93, DNMT3A, PBRM1, RPTOR, EGFR, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERG, EZH2, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FAT1, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLT1, FLT3, FLT4, FOXP1, AKT1, AKT2, AKT3, MTOR, FUBP1, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, ALK, GLI1, GNA11, GNA13, GNAQ, GNAS, GRIN2A, GRM3, GSK3B, H3F3A, HGF, HRAS, HSD3B1, HSP90AA1, IDH2, IGF1R, IGF2, APC, IL7R, INHBA, INPP4B, IRF2, IRF4, IRS2, JAK1, JAK2, JAK3, JUN, KDR, KEL, KIT, KRAS, AR, ARAF, ARFRP1, LMO1, LRP1B, LYN, LZTR1, SMAD2, SMAD3, SMAD4, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MCL1, MDM2, MDM4, MEF2B, MEN1, MET, MITF, MLH1, KMT2D, MPL, MRE11, MSH2, MSH6, MUTYH, MYC, MYCL, MYCN, MYD88, ABL1, ABL2, NF1, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NOTCH3, NPM1, ATM, NRAS, NTRK1, NTRK2, NTRK3, PAK3, PRKN, PAX5, PDGFRA, PDGFRB, PDK1, ATR, ATRX, PIK3C2B, PIK3CA, PIK3CB, PIK3CG, PIK3R1, PIK3R2, AXIN1, AXL, PLCG2, PMS2, POLD1, POLE, PPP2R1A, PRDM1, PRKAR1A, PRKCI, PRKDC, PRSS8, BAP1, BARD1, PTCH1, PTEN, PTPN11, RAC1, RAD50, RAD51, RAF1, RANBP2, RARA, RB1, KDM5A, RBM10, BCL2L1, BCL2L2, RET Specificity 1 % Genes 100 %
Tempus xT assay. By Tempus Labs, Inc. (United States). BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...) View the complete list with 555 more genes Panel complete gene list BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2, SGK1, SCG5, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA1, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMO, SOD2, SOX10, SOX2, SOX9, SPINK1, SPOP, SRC, BTG1, BTK, STAG2, STAT3, STAT4, STAT5A, STAT5B, STAT6, STK11, AURKB, AURKA, BUB1B, SYK, EPCAM, TAF1, TBX3, HNF1A, HNF1B, TCF3, TCF7L2, TCL1A, TERT, TGFBR2, NKX2-1, TMPRSS2, TNF, TNFAIP3, TNFRSF14, TNFRSF17, CD40, FAS, TNFRSF9, CD70, MED12, TOP1, TOP2A, TP53, TPM1, TPMT, TRAF3, EGLN1, TSC1, TSC2, TYMS, U2AF1, UGT1A1, UGT1A9, UMPS, KDM6A, VEGFA, VHL, WEE1, NSD2, WRN, WT1, XPA, XPC, XPO1, XRCC1, XRCC2, XRCC3, ACTA2, ZNF217, KAT6A, IKZF1, BCL11B, BRD4, FBXO11, CTCF, KMT2C, HDAC4, CIC, NSD1, CRLF2, PPP1R15A, NHP2, NOP10, CALR, IKBKE, CASP8, CASR, RUNX1T1, CBFB, CBL, CBLB, CBR3, P2RY8, SETBP1, CCND1, CCND2, KMT2B, CCND3, CCNE1, CBLC, TP63, CD19, CARD11, CD22, SUFU, SLC49A4, KIF1B, FBXW7, CDC73, BCLAF1, HSPH1, FRS2, CD79A, CD79B, PIAS4, RNF139, PALLD, ARHGAP26, DICER1, SUZ12, ACVR1B, POT1, ARID5B, CDH1, SPEN, CD274, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, ARID2, ARID1B, EMSY, RSF1, ZNRF3, PHF6, ERRFI1, ASXL1, CEBPA, IFNL3, SETD2, HAVCR2, RNF43, KLHL6, PDCD1LG2, CCDC6, CFTR, CKS1B, CHD2, CHD4, CHEK1, SOCS1, GALNT12, GREM1, SPRED1, AJUBA, BRIP1, DIS3, FANCL, BCOR, FOXQ1, MIB1, QKI, RINT1, PREX2, ZRSR2, NUDT15, FANCM, KEAP1, CREBBP, CRKL, SLX4, CDK12, CSF1R, CSF3R, SMC3, TENT5C, YEATS4, DOT1L, UBE2T, CTLA4, CTNNA1, CTNNB1, CTRC, FANCI, CUX1, CXCR4, BCORL1, ABRAXAS1, CYLD, ZNF750, TET2, CYP1B1, SDHAF2, TMEM127, PALB2, CTC1, CYP2D6, CYP3A5, SLC47A2, DAXX, AMER1, TIGIT, GEN1, DDB2, DDR2, FLCN, DDX3X, TMEM173, RICTOR, DIS3L2, DKC1, TANC1, TBL1XR1, SH2B3, DYNC2H1, DNM2, DNMT3A, PBRM1, VSIR, DPYD, SLC26A3, TUSC3, RPTOR, CEP57, EBF1, EGF, EGFR, ELF3, ENG, EP300, EPHA2, EPHA7, EPHB1, EPHB2, EPOR, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERG, ETS1, ETS2, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FAT1, FCGR2A, FCGR3A, FDPS, FGF1, FGF10, FGF14, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FHIT, KLLN, FLG, FLT1, FLT3, FLT4, FNTB, FOXO1, FOXO3, FOXP1, AKT1, AKT2, AKT3, MTOR, ABCB1, FUBP1, G6PD, GATA1, GATA2, GATA3, GATA4, GATA6, ALK, TAP1, GLI1, GNA11, GNA13, GNAQ, GNAS, TAP2, GPC3, GPS2, GRIN2A, ARHGAP35, GRM3, GSTP1, H19, HIST1H1E, H3F3A, HIST1H4E, HAS3, HDAC1, HDAC2, HGF, HIF1A, HLA-A, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, FOXA1, HOXB13, HRAS, HSP90AA1, IDH1, IDH2, ABCC3, IFIT1, IFIT2, IFIT3, IFNAR1, IFNAR2, IFNGR1, IFNGR2, APC, BIRC3, IL10RA, IL15, IL2RA, IL6R, IL7R, IDO1, ING1, INPP4B, IRF1, IRF2, IRF4, IRS2, ITPKB, JAK1, JAK2, JAK3, JUN, KDR, KEL, KIT, KRAS, MAFB, AR, ARAF, LAG3, LDLR, LMNA, LMO1, RHOA, LRP1B, LYN, LZTR1, MAD2L2, SMAD2, SMAD3, SMAD4, MAF, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K7, MAPK1, MAX, MC1R, MCL1, MDM2, MDM4, MEF2B, MEN1, MET, MGMT, CIITA, MITF, MKI67, MLH1, MLH3, KMT2D, MLLT3, MPL, MRE11, MS4A1, MSH2, MSH3, MSH6, MTAP, MTHFR, MTRR, MUTYH, ASNS, MYB, MYC, MYCL, MYCN, MYD88, MYH11, ABL1, NBN, NCOR1, NCOR2, ABL2, NF1, ZFHX3, NF2, NFE2L2, NFKBIA, NOTCH1, NOTCH2, NOTCH3, NPM1, ATIC, ATM, NRAS, NRG1, NT5C2, NTHL1, NTRK1, NTRK2, NTRK3, NUP98, PAK1, PRKN, PAX5, PAX7, PAX8, PCBP1, ATP7B, PDCD1, PDGFRA, PDGFRB, PDK1, PDPK1, ATR, ATRX, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, AXIN1, AXIN2, AXL, PLCG2, PML, PMS1, PMS2, B2M, PHOX2B, POLD1, POLE, POLH, POU2F2, PPP2R1A, PPP2R2A, PPP6C, PRCC, PRDM1, PRKAR1A, PRSS1, PRSS2, BAP1, BARD1, PTCH1, PTCH2, PTEN, PTPN11, PTPN13, PTPN22, PTPRD, RAC1, RAD21, RAD50, RAD51, RAD51C, RAD51B, RAD51D, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, KDM5A, BCL10, RBM10, BCL2L1, BCL2L11, RECQL4, RET Specificity 1 % Genes 100 %

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Sources and references

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