Thrombocytopenia 4; Thc4

Table of contents:

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

Genes related to Thrombocytopenia 4; Thc4

CYCS

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Thrombocytopenia 4; Thc4

Thrombocytopenia
Abnormality of the kidney

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

Thrombocytopenia 4; Thc4 Is also known as thrombocytopenia, autosomal dominant, 4.

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.

Thrombocytopenia 4; Thc4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories (United States). RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...) View the complete list with 612 more genes Panel complete gene list RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR Specificity 1 % Genes 100 %
Thrombocytopenia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Specificity 3 % Genes 100 %
Thrombocytopenia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Specificity 3 % Genes 100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication). By ARUP Laboratories, Molecular Genetics and Genomics (United States). BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...) View the complete list with 130 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A, TK2, TSFM, TUFM, UQCRB, WFS1, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, PINK1, PUS1, LRPPRC, NDUFAF5, APTX, COX4I2, COQ8A, MFN2, LARS2, RRM2B, PDSS1, ATPAF2, NDUFAF1, SLC25A22, CYCS, NDUFA11, NDUFAF4, PDHX, RARS2, ACAD9, COX10, COX15, COX6B1, PDSS2, CPT1A, ETHE1, CPT2, COQ2, COQ9, TRMU, DARS2, TMEM70, DBT, NDUFAF2, DGUOK, DLAT, DLD, FASTKD2, UQCRQ, DNM1L, ISCU, NDUFAF3, PREPL, DNAJC19, TYMP, SDHAF1, ETFA, ETFB, ETFDH, FH, FXN, GFER, HADH, ABCB7, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, MCCC2, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND2, MT-ND3, MT-ND4L, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, ASS1, NDUFA1, NDUFA2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, ACADL, PDHA1, PDHB, ACADM, ACADS, POLG, POLG2, ACADVL, PPM1B, PDP1, ACAT1, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
Thrombocytopenia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RUNX1, WAS, ADAMTS13, MASTL, CYCS, ANKRD26, GATA1, GP1BA, GP1BB, GP9, MPL, MYH9 Specificity 9 % Genes 100 %
Thrombocytopenia via CYCS Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CYCS Specificity 100 % Genes 100 %
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...) View the complete list with 41 more genes Panel complete gene list RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANO6, ANKRD26, NBEAL2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, LMAN1, MPL, MYH9, P2RX1, SERPINE1, PLAU, SERPINF2, PRKACG Specificity 2 % Genes 100 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded. By PreventionGenetics PreventionGenetics (United States). RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA , (...) View the complete list with 9 more genes Panel complete gene list RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %

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Sources and references

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OMIM MESH Rare Disease Symptoms Checker

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