Utentes
Ipatimup
Genética Médica

A Unidade de Diagnóstico Genético (UDG) do Ipatimup Diagnósticos tem como objetivo ajudar a identificar as causas genéticas subjacentes a diversas doenças hereditárias.

Para tal, contamos como uma equipa de colaboradores altamente qualificada e empenhada, que inclui médicos, biólogos, patologistas moleculares e bioinformáticos, orientada pelo rigor científico em todas as áreas de atuação.

O investimento na formação contínua dos nossos colaboradores, bem como a atualização constante de equipamentos e metodologias, garantem que, em cada momento, a Unidade de Diagnóstico Genético dispõe de tecnologia de última geração para assegurar um diagnóstico preciso que ajude os médicos a encontrar a melhor abordagem terapêutica para os seus doentes.

Oferecemos uma ampla gama de exames genéticos, abrangendo diferentes áreas da Medicina, como a oncogenética, cardiogenética, doenças do tecido conjuntivo, rasopatias e doenças genéticas complexas. Para cada uma das situações clínicas a estudar, temos disponíveis o estudo de gene único ou de painéis alargados de genes, incluindo o estudo do exoma completo.

Para além do diagnóstico genético, fornecemos também aconselhamento genético para doentes e familiares, esclarecendo dúvidas sobre as implicações dos nossos achados e sobre as opções reprodutivas disponíveis.

O nosso compromisso com a excelência e a inovação posiciona-nos como um parceiro de confiança para médicos e doentes, oferecendo serviços de alta qualidade e contribuindo ativamente para avanços significativos no campo da Genética Médica.

A Unidade de Diagnóstico Genético do Ipatimup está preparada para enfrentar os desafios mais complexos em diagnóstico genético, sempre com foco no bem-estar e na saúde dos nossos doentes.

Genética Médica

Exames disponíveis

Consulta de Aconselhamento Genético

225 570 704

Documentos

Genética Médica
Cancro Hereditário

BRCA1, BRCA2

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, NF1, TP53

ATM, BRCA1, BRCA2, CHEK2, ELAC2, HOXB13, MLH1, MSH2, MSH6, MSR1, PALB2, PMS2, RNASEL, SPOP

APC, ATM, ATR, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CTNNA1, EPCAM, FANCC, FANCM, FLCN, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PRF1, RAD51C, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

NF1, SDHA, SDHB, SDHC, SDHD, KIT e PDGFRA

APC, MUTYH

APC, BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TSC1, TSC2

EPCAM, MLH1, MSH2, MSH6, PMS2

APC, ATM, AXIN2, BLM, BMPR1A, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11, TP53, TSC1, TSC2

ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SPINK1, STK11, TP53, VHL, XRCC2

BAP1, FH, FLCN, MET, PTEN, SDHA, SDHB, SDHC, SDHD, TSC1, TSC2, VHL

THRB, THRA, SLC16A2, SECISBP2

BAP1, BRCA2, CDK4, CDKN2A, MITF, PTCH1, TERT, XRCC3

DLST, DNMT3A, EPAS1, FH, GOT2, H3-3A, KIF1B, MAX, MDH2, MEN1, MERTK, MET, NF1, EGLN1, EGLN2, EGLN3, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, TMEM127, VHL

APC, BRCA1, BRCA2, CDKN2A, CHEK2, MLH1, MSH2, MSH6, NF1, NF2, PALB2, PMS2, POT1, SMARCB1, TP53

  • MEN1
  • RET – 8 exões (exões 8, 10, 11, 13, 14, 15 e 16)
  • RB1
  • Tipo 1 – NF1
  • Tipo 2 – NF2

TSC1 e TSC2

ALK, APC, ARMC5, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, BUB1B, BUB3, CDC73, CDH1, CDK4, CDKN2A, CENPJ, CHEK2, CREBBP, CTC1, CTNNA1, CYLD, DDB2, DDX11, DICER1, DKC1, EGFR, ELAC2, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ETV6, EXO1, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GDNF, GPC3, GREM1, HABP2, HAX1, HNF1A, HOXB13, IPMK, KIF1B, KIT, KLLN, LZTR1, MAP3K6, MAX, MDH2, MEN1, MET, MITF, MLH1, MPL, MRE11A, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NOP10, NSD1, NTHL1, OGG1, PALB2, PARN, PHOX2B, PMS2, POLD1, POLE, PPM1D, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPRJ, RAD50, RAD51B, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RHBDF2, RINT1, RNASEL, RNF43, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RTEL1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEMA4A, SFTPA1, SFTPA2, SLX4, SMAD4, SMAD9, SMARCA4, SMARCB1, SPINK1, SPOP, SQSTM1, STK11, SUFU, TERT, TINF2, TMEM127, TP53, TRAF6, TSC1, TSC2, VHL, WAS, WRN, WT1, XPA, XPC, XRCC2, XRCC3

Nota: Contactar laboratório para levantamento/envio de tubos de colheita específicos para este estudo

  • NF1
  • PMS2
  • Outro
Genética Médica
Cardiogenética
  • Miocardiopatia Hipertrófica – 31 genes (ACTC1, ACTN2, ALPK3, ANKRD1, CASQ2, CAV3, CRYAB, CSRP3, FHL1, FHOD3, FLNC, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL)
  • Miocardiopatia Dilata e Não compactada do Ventrículo Esquerdo – 43 genes (ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSP, DTNA, EMD, EYA4, FHL2, FHOD3, FKTN, FLNC, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH7, MYPN, PLN, PPA2, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, VCL)
  • Miocardiopatia Não-dilatada do Ventrículo Esquerdo – 6 genes (DES, FLNC, LMNA, PLN, RBM20, TMEM43)
  • Miocardiopatia Arritmogénica – 15 genes (CTNNA3, DES, DSC2, DSG2, DSG3, DSP, FLNC, JUP, LMNA, MIB1, PKP2, PLN, RYR2, TGFB3, TMEM43)
  • Miocardiopatias Alargado – 82 genes (ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALPK3, ANKRD1, BAG3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSG3, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKTN, FLNC, FXN, GAA, GATAD1, GLA, ILK, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MIB1, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TTN, TTR, VCL)
  • Síndrome de QT-Longo ou QT-Curto – 19 genes (AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TECRL) Inclui Romano-Ward + Lange Nielson
  • Síndrome de Brugada – 24 genes (ABCC9, CACNA1C, CACNA2D1, CACNB2, DPP6, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCNA5A, SEMA3A, SLMAP, TRPM4)
  • Taquicardia Ventricular Polimórfica Catecolaminérgica – 7 genes (ANK2, CALM1, CALM3, CASQ2, KCNJ2, RYR2, TRDN)
  • Arritmias Cardíacas Alargado – 64 genes (ABCC9, AKAP9, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DPP6, DSC2, DSG2, DSG3, DSP, FGF12, FLNC, GJA5, GPD1L, HCN4, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LMNA, MIB1, MYH6, MYH7, NKX2-5, NPPA, PKP2, POPDC1, POPDC2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TBX5, TECRL, TGFB3, TMEM43, TRDN, TRPM4)

ABCC9, ACADVL, ACTC1, ACTN2, AGL, AKAP9, ALPK3, ANK2, ANKRD1, BAG3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, EMD, EYA4, FGF12, FHL1, FHL2, FHOD3, FKTN, FLNC, FXN, GAA, GATAD1, GJA5, GLA, GPD1L, HCN4, ILK, JPH2, JUP, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MIB1, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PKP2, PLN, POPDC1, POPDC2, PPA2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SGCD, SLMAP, SNTA1, TAZ, TBX20, TBX5, TCAP, TECRL, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL

Genética Médica
Conjuntivopatias

ACTA2, ATP7A, BGN, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, FOXE3, LOX, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, GORAB, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469

ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, MESD, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1

ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

ALDH18A1, ATP6V0A2, ATP6V1A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10

ACTA2, ADAMTS2, AEBP1, ALDH18A1, ALPL, ARHGAP31, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, BMS1, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CREB3L1, CRTAP, DLL4, DOCK6, DSE, EFEMP2, ELN, EOGT, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLNA, FOXE3, GORAB, IFITM5, KIF22, LOX, LRP5, LTBP4, MBTPS2, MED12, MESD, MFAP5, MYH11, MYLK, NOTCH1, P3H1, P4HB, PLOD1, PLOD2, PLS3, PPIB, PRDM5, PRKG1, PYCR1, RBPJ, RIN2, ROBO4, SEC24D, SERPINF1, SERPINH1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SP7, SPARC, TENT5A, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM38B, TNXB, WNT1, ZNF469

Genética Médica
Rasopatias

BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1

A2ML1, ACTB, ACTG1, AKT3, BRAF, CABIN1, CBL, CCND2, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, NSUN2, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, STAMBP

Genética Médica
Dislipidemias

LDLR, PCSK9, LDLRAP1, APOB

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, CYP7A1, EPHX2, GHR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, MYLIP, NPC1L1, PCSK9, PPP1R17, SAR1B, SCARB1, SLCO1B1

Genética Médica
Farmacogenética
  • IL-28B
  • TPMT
  • DPYD
Genética Médica
Gastroenterologia

Genotipagem HLA – heterodímeros DQ2 e DQ8

CARD15/NOD2

ATPD7B

CARD15/NOD2

HFE

CARD15/NOD2

CARD15/NOD2

Genética Médica
Endocrinologia
  • Diabetes MODY
  • Diabetes Neonatal
  • Hiperinsulinismo
Genética Médica
Pneumologia
  • α1-antitripsina
Genética Médica
Deficiências enzimáticas
  • 21-Hidroxilase
  • Parálise hipercalémica periódica (SCN5A)
Genética Médica
Painéis baseados em WES

ABHD12, ADGRV1/GPR98, ARSG, CDH23, CEP250, CEP78, CIB2, CLRN1, ESPN, HARS, MYO7A, PCH15, PDZD7, PEX1, PEX6, PRPS1, TUBB4B, USH1C, USH1G, USH2A, WHRN/DFNB31 – IEPSU_P2_20230510

ABCC1, ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 / GPR98, AIFM1, ALMS1, ANKH, AP1B1, ARSG, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BDP1, BSND, BTD, C10orf2/TWNK, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP250, CEP78, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DFNA5 /GSDME, DFNB31 / WHRN, DFNB59 / PJVK, DIABLO, DIAPH1, DIAPH3, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FAM65B / RIPOR2, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GAB1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HSD17B4, IARS2, IFNLR1 / IL28RA, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LOXL3, LRTOMT, MARVELD2, MCM2, MET, METTL13, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PET100 / C19orf79, PEX1, PEX6, PLOD3, PLS1, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, ROR1, S1PR2, SCD5, SEMA3E, SERAC1, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2 / GPR172A, SLC52A3 / C20orf54, SLITRK6, SMPX, SNAI2, SOX10, SOX2, SPATA5, SPATC1L / C21orf56, SPNS2, STRC, SYNE4 / C19orf46, TBC1D24, TBX1, TCOF1, TECTA, TECTB, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TMTC2, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TUBB4B, TYR, USH1C, USH1G, USH2A, WBP2, WFS1, YAP1 – IEPS_P2_20230510

ABHD12, ADGRV1/GPR98, ARSG, CDH23, CEP250, CEP78, CIB2, CLRN1, ESPN, HARS, MYO7A, PCDH15, PDZD7, PEX1, PEX6, PRPS1, TUBB4B, USH1C, USH1G, USH2A, WHRN/DFNB31 – IEPSU_P2_20230510

ABCA4, BEST1, C1QTNF5, CFH, CTNNA1, DRAM2, EFEMP1, ELOVL4, FSCN2, GUCA1B, HMCN1, IMPG1, MFSD8, OTX2, PRDM13, PROM1, PRPH2, RP1L1, RPGR, TIMP3 – IEPDMA_P2_20230509

CABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1 – IEPCNEC_P2_20230509

AIPL1, CABP4, CCT2, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 – IEPACL_P1_22022022

ABCB6, ADAMTS18, ALDH1A3, ALX1, ASPH, ATOH7, B3GLCT / B3GALTL, BCOR, BMP4, BMP7, C12orf57, C16orf62, CAPN15, CDK9, CDON, CHD7, COL4A1, COX7B, CPAMD8, CRYAA, CRYBA4, CYP1B1, DCDC1, ELP4, ERCC2, ERCC5, ERCC6, FAT1, FGFR2, FNBP4, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD5, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, ITPR1, JAG1, KERA, KMT2D, MAB21L2, MFRP, MITF, MYRF, NAA10, NDP, NDUFB11, NHS, OCRL, OTX2, PAX2, PAX6, PITX2, PITX3, PLK4, PORCN, PQBP1, PRDM5, PRR12, PRSS56, PTCH1, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RERE, SALL2, SHH, SIPA1L3, SIX3, SIX6, SLC38A8, SMCHD1, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM98, TMX3, TUBGCP4, UBE3B, VAX1, VPS13B, VSX1, VSX2, WNT2B, YAP1, ZDBF2, ZIC2 – IEPAMCDSA_P2_20230510

ABCA4, ADAM9, AIPL1, ATF6, C21orf2, C8orf37, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CNGA3, CNGB3, CNNM4, CRX, DYNC2I2 / WDR34, GNAT2, GUCA1A, GUCY2D, IFT81, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RIMS1, RPGR, RPGRIP1, SEMA4A, SLC4A7, TTLL5, UNC119 – IEPDCB_P1_20230509

ABCA4, ABHD12, ADIPOR1, AGBL5, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2orf71 / PCARE, C8orf37, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CHM, CLCC1, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DFNB31, DHDDS, DHX38, ENSA, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GPR125, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, EMC1, KIAA1549, KIF3B, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MKKS, MVK, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3 / PNR, NRL, OAT, OFD1, PANK2, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SAMD11, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, VPS13B, WDR19, WFS1, ZNF408, ZNF513 – IEPRP_P2_20230509

ABCC6, ABHD12, ACBD5, ACO2, ADAMTS18, ADIPOR1, AFG3L2, AHI1, ALMS1, ATXN7, CC2D2A, CEP164, CEP290, CLN3, COL11A1, COL2A1, COL9A1, CSPP1, CWC27, ELOVL4, EXOSC2, FLVCR1, GNPTG, HARS, HGSNAT, HMX1, IFT140, IFT81, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KIF11, LAMA1, LRP5, MFN2, MKS1, MTTP, NPHP1, NPHP3, NPHP4, OFD1, OPA3, PANK2, PAX2, PCYT1A, PEX1, PEX2, PEX7, PHYH, PLK4, PNPLA6, POC1B, POC5, PPT1, PRPS1, RDH11, RIMS2, RPGRIP1L, SDCCAG8, SLC25A46, TIMM8A, TMEM216, TMEM237, TREX1, TRNT1, TTPA, TUB, TUBGCP4, TUBGCP6, VCAN, WDPCP, WDR19, WFS1, ZNF423 – IEPDSR_P1_20230509

ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3 / GPR125, ADGRV1 / GPR98, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARR3, ARSG, ATF6, ATOH7, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BMP4, C12orf65, C1QTNF5, C2, C21ORF2, C2ORF71 / PCARE, C3, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83 / CCDC41, CERKL, CFAP410 / C21ORF2, CFB, CFH, CHM, CIB2, CISD2, CLCC1, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1 / C5ORF42, CRB1, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP4V2, DHDDS, DHX32, DHX38, DNAJC17, DNAJC5, DRAM2, DSCAML1, DTHD1, EFEMP1, ELOVL4, EMC1, ERCC6, ESPN, EXOSC2, EYS, FAM161A, FAM57B, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GPR45, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, IFT81, IFT88, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIAA0586, KIAA1549, KIF11, KIF7, KIZ / C20ORF19, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRMDA / C10ORF11, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MPDZ, MTPAP, MTTP, MVK, MYO7A, MYOC, NAGLU, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3 / PNR, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OR2W3, OTX2, P3H2 / LEPREL1, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC38A8, SLC45A2, SLC7A14, SNRNP200, SOX2, SPATA7, SPP2, SRD5A3, SSBP1, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, VSX2, WDPCP, WDR19, WFS1, WHRN / DFNB31, YME1L1, ZNF408, ZNF423, ZNF513 – IEPDR_P1_20230510

ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3 / GPR125, ADGRV1 / GPR98, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AHI1, AHR, AIPL1, ALDH18A1, ALDH1A3, ALDH3A2, ALMS1, ALX1, AMACR, ANK3, AP3B1, AP3D1, ARHGEF18, ARL13B, ARL2, ARL2BP, ARL3, ARL6, ARMC9, ARMS2, ARR3, ARSG, ASB10, ASPH, ASRGL1, ATF6, ATOH7, ATXN7, B3GLCT / B3GALTL, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S5, BLOC1S6, BMP4, BMP7, BMPR1B, C12orf57, C12orf65, C16orf62, C19orf12, C1QTNF5, C2, C21orf2, C2ORF71, C2ORF71 / PCARE, C3, C5ORF42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN15, CAPN5, CC2D2A, CCT2, CDH2, CDH23, CDH3, CDH4, CDHR1, CDK10, CDK9, CDON, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83 / CCDC41, CERKL, CFAP410 / C21ORF2, CFB, CFH, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2, CISD2, CLCC1, CLDN19, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COA8 / APOPT1, COL11A1, COL11A2, COL17A1, COL18A1, COL25A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, COX7B, CPAMD8, CPLANE1 / C5ORF42, CPSF1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTDP1, CTNNA1, CTNNB1, CTSD, CTSH, CWC27, CYP1B1, CYP4V2, DCDC1, DCN, DCT, DDHD1, DDX58, DHDDS, DHX32, DHX38, DKC1, DNAJC17, DNAJC30, DNAJC5, DNM1L, DNMBP, DRAM2, DSCAML1, DTHD1, DTNBP1, DYNC2H1, EFEMP1, ELOVL1, ELOVL4, ELP4, EMC1, ENSA, EPG5, EPHA2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, ESPN, EXOSC2, EYA1, EYS, FA2H, FAM161A, FAT1, FBLN5, FBN1, FBXW11, FDXR, FGFR2, FLVCR1, FNBP4, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GALK1, GALM, GALT, GCNT2, GDF3, GDF6, GDPD1, GFER, GJA1, GJA3, GJA8, GNAT1, GNAT2, GNB3, GNPTG, GNS, GPR143, GPR179, GPR45, GRHL2, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HESX1, HGSNAT, HK1, HKDC1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSF4, HSPG2, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IFT88, IGSF3, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, IRX1, ITM2B, ITPR1, JAG1, JAM3, KCNJ13, KCNV2, KERA, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF21A, KIF3B, KIF7, KLHL7, KMT2D, KRT12, KRT3, LAMA1, LAMB2, LAMP2, LCA5, LEMD2, LIM2, LMX1B, LOXL3, LRAT, LRIT3, LRMDA / C10ORF11, LRP2, LRP5, LRPAP1, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAFB, MAK, MAPKAPK3, MC1R, MCAT, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MMACHC, MPDZ, MTPAP, MTTP, MVK, MYO5A, MYO7A, MYOC, MYRF, NAA10, NAGLU, NBAS, NDP, NDUFB11, NDUFS2, NEK1, NEK2, NEUROD1, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3 / PNR, NR2F1, NRL, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OR2W3, OTX2, OVOL2, P3H2 / LEPREL1, P4HA2, PAK2, PANK2, PANK4, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDGFRA, PDZD7, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIKFYVE, PISD, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POLG2, POMGNT1, PORCN, PPT1, PQBP1, PRCD, PRDM13, PRDM5, PRDX3, PRIMPOL, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR11, PRR12, PRSS56, PTCH1, PTCHD1, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RERE, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SALL2, SAMD11, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SEMA4A, SGSH, SH3BP2, SHH, SIL1, SIPA1L3, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A46, SLC33A1, SLC37A3, SLC38A8, SLC39A12, SLC39A5, SLC45A2, SLC4A11, SLC4A7, SLC52A2, SLC66A1 / PQLC2, SLC7A14, SMCHD1, SMG8, SMO, SMOC1, SNRNP200, SOX2, SOX5, SPATA7, SPG7, SPP2, SRD5A3, SSBP1, STRA6, STX3, TACSTD2, TBC1D20, TBC1D2B, TCTN1, TCTN2, TCTN3, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TFPT, TGFBI, TIMM8A, TIMP3, TLCD3B /FAM57B, TMCO3, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TMEM98, TMX3, TOGARAM1 / FAM179B, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBA3D, TUBB3, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TWNK / C10ORF2, TYR, TYRP1, UBE3B, UBIAD1, UNC119, UNC45B, USH1C, USH1G, USH2A, USP45, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WDR34 / DYNC2I2, WDR36, WDR73, WFS1, WHRN / DFNB31, WNT2B, WRN, YAP1, YARS1 / YARS, YME1L1, YPEL2, ZDBF2, ZEB1, ZIC2, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644 – IEPOA_P2_20230510

CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9 – IEPSA_P2_20230511

ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, THBD – IEPSHUA_P1_22022022

HNF1B, MUC1, REN, UMOD, COL4A3, COL4A4, COL4A5, SEC61A1, SLC8A1 – IEPDRTIAD_P1_22022022

ANKS6, CEP164, CEP83 / CCDC41, COL4A3, COL4A4, COL4A5, DCDC2, GLIS2, HNF1B, INVS, MAPKBP1, MUC1, NEK8, NPHP1, NPHP3, NPHP4, REN, SEC61A1, SLC8A1, TMEM67, TTC21B, UMOD, WDR19, XPNPEP3, ZNF423 – IEPDRTIADR_P1_20230511

ADAMTS9, AHI1, ANKS6, CEP164, CEP290, CEP83 / CCDC41, DCDC2, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423 – IEPN_P1_20230511

ALG8, ALG9, DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, PKD1, PKD2, PKHD1, PMM2, PRKCSH, REN, SEC61A1, SEC61B, SEC63, TSC1, TSC2, UMOD – IEPDRQH_DRTIAD_P1_22022022

ACSL4, ACTN4, ADCK4 / COQ8B, ALG1, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CDK20, CFH, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, CRB2, CUBN, DGKE, DLC1, EMP2, FAN1, FAT1, FBXW7, FN1, GAPVD1, INF2, ITGA3, ITGB4, ITSN1, ITSN2, KANK1, KANK2, KANK4, KIRREL, LAGE3, LAMA5, LAMB2, LMNA, LMX1B, MAFB, MAGI2, MPV17, MYH9, MYO1E, NEIL1, NOS1AP, NPHP1, NPHP4, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OSGEP, PAX2, PDSS2, PLCE1, PMM2, PODXL, PTPRO, SCARB2, SGPL1, SMARCAL1, STS, SYNPO, TBC1D8B, TNS2, TP53RK, TPRKB, TRPC6, TTC21B, WDR73, WT1, XPNPEP3, XPO5, ZEB1, ZMPSTE24 – IEPGFSSN_P2_20230511

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, EGF, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6 – IEPHM_P1_22022022

AP2S1, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, FXYD2, GNA11, HSD11B2, KCNJ1, KCNJ10, KLHL3, MAGED2, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC4A1, SLC4A4, TRPM6, WNK1, WNK4 – IEPSBDD_P1_22022022

ACE, ACTA2, ACTG2, ADGRG2 / GPR64, AGT, AGTR1, ANOS1/ KAL1, BICC1, BMP4, BMP7, BNC2, BSND, CDC5L, CENPF, CEP55, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, COX10, CTU2, DACT1, DHCR7, DLG3, DSTYK, EXOC3L2, EYA1, CCNQ / FAM58A, FANCB, FGF20, FOXC1, FOXC2, FOXD2, FRAS1, FREM1, FREM2, GATA3, GDNF, GLI3, GPC3, GREB1L, GREM1, GRIP1, HAAO, HCN3, HNF1B, HOXA13, HPSE2, ISL1, ITGA8, JAG1, KDM6A, KIT, KMT2D / MLL2, KYNU, LIFR, LRIG2, LRP4, MUC1, MYH11, MYOCD, NADSYN1, NEK8, NIPBL, NOTCH2, NPHP3, OCRL, PAX2, PBX1, REN, RET, ROBO2, ROR2, RPGRIP1L, RRM2B, SALL1, SALL4, SHH, SIX1, SIX5, SLIT2, SMARCA4, SOX17, SPRY1, STRA6, TBC1D1, TBX18, TFAP2A, TNXB, TRAP1, TSHZ3, UMOD, UPK2, UPK3A, VIPAS39 /C14orf133, VPS33B, WNT5A, WT1, ZIC3 – IEPCAKUT_P1_22022022

ARMC4, C11ORF70, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP57 / WDR65, CFTR, DNAAF1, DNAAF2, DNAAF3 / C19orf51, DNAAF5 / HEATR2, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1 / CCDC164, DYX1C1 / DNAAF4, GAS2L2, GAS8, HYDIN, INVS, LRRC56, LRRC6, LZTFL1, IDAS / MCIDAS, NEK10, OFD1, PIH1D3 / CXorf41, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, TXNDC3 / NME8, ZMYND10 – IEPDCP_P3_20230605

ACVR2B, ADAMTS9, ADGRV1 /GPR98, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC4, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C11orf70, C14orf101 / TMEM260, DNAAF3 / C19orf51, CFAP410 / C21ORF2, C21orf59, C2CD3, C2orf71, CPLANE1 / C5ORF42, TBC1D32 / C6orf170, C7orf63, C8orf37, CC2D2A, CCDC103, CFAP53 / CCDC11, CCDC114, CCDC151, DRC1 / CCDC164, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83 / CCDC41, CFAP44 / WDR52, CFAP57 / WDR65, CFC1, CFTR, CLRN1, CPE, CRB1, CRB2, CRELD1, CRX, CSPP1, DCDC2, DDX59, DHCR7, DNAAF1, DNAAF2, DNAH1, DNAH11, DNAH17, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNHD1, DYNC2H1, DYNC2LI1, DYX1C1 / DNAAF4, EVC, EVC2, EXOC3L2, EXOC8, EXTL3, FAM149B1, CCNQ / FAM58A, FAN1, FOXH1, FUZ, GAS2L2, GAS8, GDF1, GLI2, GLI3, GLIS2, GUCY2D, DNAAF5 / HEATR2, HNF1B, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IMPDH1, INPP5E, INTU, INVS, IQCB1, KCNJ13, KCTD3, KATNIP / KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LBR, LCA5, LEFTY2, LRAT, LRRC56, LRRC6, LZTFL1, MAPKBP1, IDAS / MCIDAS, MKKS, MKS1, MMP21, MRE11A, MUC1, MYO7A, NCAPG2, NEK1, NEK8, NKX2-5, NME5, TXNDC3 / NME8, NODAL, NPHP1, NPHP3, NPHP4, OCRL, OFD1, PCDH15, PDE6D, PIBF1, PIEZO2, PIH1D3 / CXorf41, PIK3C2A, PKD1, PKD2, PKHD1, PMFBP1, PMM2, PNPLA6, POC1A, POC1B, PRKCSH, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCAPER, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC63, SPAG1, SPATA7, STK36, SUFU, TAPT1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRAF3IP1, TRIM32, TSC1, TSC2, TTBK2, TTC21B, TTC26, TTC8, TULP1, TXNDC15, UMOD, USH1C, USH1G, USH2A, USP9X, VHL, VPS13B, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR63, WDR66, CFAP43 / WDR96, WHRN / DFNB31, XPNPEP3, ZIC3, ZNF423, ZSWIM6 – IEPCILIO_P2_20230605

ACSL4, ACTN4, ADAM19, ALG1, ALMS1, AMN, ANLN, AP2S1, APOA1, APOE, APOL1, ARHGAP24, ARHGDIA, AVIL, B2M, C3AR1, CD151, CD2AP, CDK20, CFH, CFHR5, CLCN5, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, ADCK4 / COQ8B, CRB2, CTNS, CUBN, DAAM2, DGKE, DLC1, E2F3, EMP2, ERCC4, FAN1, FAT1, FGA, FN1, GLA, GNA11, HNF1B, INF2, ITGA3, ITGB4, ITSN1, KANK1, KANK2, KANK4, KIRREL1 / KIRREL, LAGE3, LAMA5, LAMB2, LMNA, LMX1B, LPL, LRP2, LYZ, MAFB, MAGI2, MEFV, MPV17, MYH9, MYO1E, NEIL1, NLRP3, NOS1AP, NPHP4, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PLCG2, PMM2, PODXL, PTPRO, RCAN1, REN, SCARB2, SEC61A1, SGPL1, SMARCAL1, STS, SYNPO, SYNPO2, TBC1D8B, TNS2 / TENC1, TP53RK, TPRKB, TRIM8, TRPC6, TTC21B, UGT1A1, WDR73, WT1, XPNPEP3, XPO5, ZAP70, ZBTB24, ZEB1, ZMPSTE24 – IEPDRG_P2_20230605

ADCY10, AGXT, ALPL, AP2S1, APRT, AQP2, ATP6V0A4, ATP6V1B1, AVP, AVPR2, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN14, CLDN15, CLDN16, CLDN19, CNNM2, CTNS, CUL3, CYP24A1, CYP27B1, DMP1, EGF, EHHADH, ENPP1, FAH, FAM20A, FGF23, FXYD2, GRHPR, HNF1A, HNF1B, HNF4A, HOGA1, HPRT1, HSD11B2, KCNA1, KCNJ1, KCNJ10, KCNJ15, KLHL3, MAGED2, MUC1, NOTCH2, NR3C2, OCRL, PHEX, REN, SCN4A, SCNN1A, SCNN1B, SCNN1G, SEC61A1, SLC12A1, SLC12A2, SLC12A3, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC5A4/SGLT3, SLC7A9, SLC9A3R1, TRPM6, UGT1A1, UMOD, VDR, WNK1, WNK4, XDH, XPNPEP3 – IEPDRT_P2_20230605

ACE, ACSL4, ACTA2, ACTG2, ACTN4, ACVR2B, ADAM19, ADAMTS13, ADAMTS9, ADCK4 / COQ8B, ADCY10, ADCY3, ADGRG2 / GPR64, ADGRV1 /GPR98, AGL, AGT, AGTR1, AGXT, AHI1, AIPL1, ALDH18A1, ALDOB, ALG1, ALG8, ALG9, ALMS1, ALPL, AMN, ANKFY1, ANKS6, ANLN, ANOS1 / KAL1, AP2S1, APOA1, APOA5, APOC2, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL3, ARL6, ARMC4, ARMC9, ATP1A1, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATRX, ATXN10, AVIL, AVP, AVPR2, B2M, B9D1, B9D2, BAP1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BNC2, BSND, C11orf70, C14orf101 / TMEM260, C1QA, C1QB, C1QC, C1R, C1S, C2, C21orf59, C2CD3, C2orf71, C3, C3AR1, C4A, C4BPA, C4BPB, C5, C6, TBC1D32 / C6orf170, C7, C7orf63, C8A, C8B, C8G, C8orf37, C9, CA2, CACNA1H, CASR, CBWD1, CC2D2A, CCDC103, CCDC114, CCDC141, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CCNQ / FAM58A, CD151, CD2AP, CD46, CD55, CD59, CDC5L, CDH23, CDK20, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83 / CCDC41, CFAP410 / C21ORF2, CFAP43 / WDR96, CFAP44 / WDR52, CFAP53 / CCDC11, CFAP57 / WDR65, CFB, CFC1, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN14, CLDN15, CLDN16, CLDN19, CLRN1, CLU, CNNM2, CNNM4, COG7, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ7, COQ9, COX10, CPE, CPLANE1 / C5ORF42, CR1, CR2, CRB1, CRB2, CRELD1, CRX, CSPP1, CTNS, CTU2, CUBN, CUL3, PIH1D3 / CXorf41, CYP11B1, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DAAM2, DACT1, DCC, DCDC2, DCHS2, DDX59, DGKE, DHCR7, DIS3L2, DLC1, DLG3, DMP1, DNAAF1, DNAAF2, DNAAF3 / C19orf51, DNAAF5 / HEATR2, DNAH1, DNAH11, DNAH17, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DNHD1, DOCK6, DRC1 / CCDC164, DSTYK, DUSP6, DYNC2H1, DYNC2LI1, DYX1C1 / DNAAF4, DZIP1L, E2F3, EFEMP2, EGF, EHHADH, ELN, EMP2, ENPP1, EPCAM, ERCC4, EVC, EVC2, EXOC3L2, EXOC8, EXTL3, EYA1, FAH, FAM111A, FAM149B1, FAM20A, FAN1, FANCB, FANCL, FAT1, FAT4, FBLN5, FBXW7, FCN1, FCN2, FCN3, FEZF1, FGA, FGF17, FGF20, FGF23, FGF8, FGFR1, FH, FLCN, FLRT3, FMN1, FN1, FOXC1, FOXC2, FOXD2, FOXH1, FOXI1, FRAS1, FREM1, FREM2, FSHB, FUZ, FXYD2, G6PC, GAA, GALNT3, GANAb, GAPVD1, GAS2L2, GAS8, GATA3, GBE1, GCM2, GDF1, GDF11, GDNF, GFRA1, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNRH1, GNRHR, GORAB, GPC3, GPIHBP1, GREB1L, GREM1, GRHPR, GRIP1, GSN, GUCY2D, GYS2, HAAO, HCN3, HESX1, HGF, HIF1A, HNF1A, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPSE2, HS6ST1, HSD11B2, HSD3B2, HYDIN, HYLS1, ICK, IDAS / MCIDAS, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGSF10, IL17RD, IMPDH1, INF2, INPP5E, INTU, INVS, IQCB1, ISL1, ITGA3, ITGA8, ITGAM, ITGB4, ITSN1, ITSN2, JAG1, KANK1, KANK2, KANK4, KATNIP / KIAA0556, KCNA1, KCNJ1, KCNJ10, KCNJ13, KCNJ15, KCNJ16, KCNJ5, KCTD3, KDM6A, KIAA0586, KIAA0753, KIF14, KIF7, KIRREL1 / KIRREL, KISS1, KISS1R, KIT, KL, KLB, KLHL3, KMT2D / MLL2, KYNU, LAGE3, LAMA5, LAMB2, LBR, LCA5, LCAT, LEFTY2, LEP, LEPR, LGR4, LHB, LHX3, LIFR, LIPI, LMF1, LMNA, LMX1B, LPL, LRAT, LRIG2, LRP2, LRP4, LRP5, LRRC56, LRRC6, LTBP4, LYZ, LZTFL1, MAFB, MAGED2, MAGI2, MAGT1, MAPKBP1, MASP1, MASP2, MBL2, MEFV, MET, MITF, MKKS, MKS1, MLH1, MMACHC, MMP21, MOCOS, MPV17, MRE11A, MSH2, MSH6, MUC1, MYH11, MYH9, MYO1E, MYO7A, MYOCD, NAA10, NADSYN1, NCAPG2, NEIL1, NEK1, NEK10, NEK8, NELF / NSMF, NEU1, NIPA2, NIPBL, NKX2-5, NLRP3, NME5, NODAL, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B1, NR3C2, NRIP1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OFD1, OSGEP, OXGR1, PAX2, PBX1, PCBD1, PCDH15, PCSK1, PDE6D, PDSS2, PFKM, PHEX, PHKA2, PIBF1, PIEZO2, PIGA, PIK3C2A, PITX1, PKD1, PKD2, PKHD1, PLCE1, PLCG2, PLG, PLXNA1, PMFBP1, PMM2, PMS1, PMS2, PNPLA6, POC1A, POC1B, PODXL, POR, PRDX1, PRKCSH, PROK2, PROKR2, PROP1, PTEN, PTH1R, PTPRO, PVALB, PYCR1, PYGM, RAD21, RCAN1, RD3, RDH12, REN, RET, RIN2, RMND1, ROBO2, ROR2, RP1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SARS2, SBDS, SCAPER, SCARB2, SCLT1, SCN4A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHB, SDHD, SEC61A1, SEC61B, SEC63, SEMA3A, SERPING1, SGPL1, SHH, SIX1, SIX2, SIX5, SLC12A1, SLC12A2, SLC12A3, SLC16A12, SLC22A12, SLC26A1, SLC26A3, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC5A4 / SGLT3, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC8A1, SLC9A3, SLC9A3R1, SLIT2, SLIT3, SMARCA4, SMARCAL1, SOX10, SOX17, SOX2, SPAG1, SPATA7, SPRY1, SPRY4, STAR, STK36, STRA6, STS, STX16, SUFU, SYNPO, SYNPO2, TAC3, TACR3, TALDO1, TAPT1, TBC1D1, TBC1D8B, TBX18, TBX4, TCF12, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2 / TENC1, TNXB, TOPORS, TP53, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM32, TRIM8, TRPC6, TRPM6, TRPS1, TSC1, TSC2, TSHZ3, TTBK2, TTC21B, TTC26, TTC8, TULP1, TXNDC15, TXNDC3 / NME8, UGT1A1, UMOD, UPK2, UPK3A, UQCC2, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39 /C14orf133, VPS13B, VPS33B, VSIG4, VTN, VWF, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR60, WDR63, WDR66, WDR73, WFS1, WHRN / DFNB31, WNK1, WNK4, WNT4, WNT5A, WT1, XDH, XPNPEP3, XPO5, ZAP70, ZBTB24, ZEB1, ZIC3, ZMPSTE24, ZNF423, ZSWIM6 – IEPDRH_P2_20230605

ACTB, CEBPE, CLPB, CSF2RA, CSF2RB, CSF3R, CTSC, CYBA, CYBB, DNAJC21, ELANE, FERMT3, FPR1, G6PC3, GATA2, GFI1, HAX1, HYOU1, ITGB2, JAGN1, LAMTOR2, MRTFA / MKL1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, SMARCD2, TAZ, USB1, VPS13B, VPS45, WAS, WDR1 – IEPDCF_P2_20230511

ADA, ADA2 / CECR1, AICDA, ATM, ATP6AP1, BLNK, BTK, CARD11, CD19, CD27, CD40, CD40LG, CD70, CD79A, CD79B, CD81, CDCA7, CR2, CTLA4, CXCR4, DCLRE1C, DNMT3B, GATA2, HELLS, ICOS, IGHM, IGKC, IGLL1, IKZF1, IL21, IL21R, INO80, IRF2BP2, KDM6A, KMT2D, LRBA, LRRC8A, MOGS, MRE11 / MRE11A, MS4A1, MSH6, NBN, NFKB1, NFKB2, NFKBIA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PRKCD, PTEN, PTPRC, RAC2, RAG1, RAG2, RNF168, SH2D1A, SKIC3 / TTC37, STAT3, TCF3, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37, UNG, VAV1, XIAP, ZBTB24 – IEPDA_P2_20230511

ACT1 / TRAF3IP2, APOL1, CARD9, CLCN7, CXCR4, CYBB, FCGR3A, HMOX1, IFIH1, IFNAR2, IFNGR1, IFNGR2, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRAK1, IRAK4, IRF3, IRF7, IRF8, ISG15, JAK1, MYD88, NBAS, NCSTN, OSTM1, PLEKHM1, PSEN1, PSENEN, RANBP2, RORC, RPSA, SNX10, STAT1, STAT2, TBK1, TCIRG1, TIRAP, TLR3, TMC6, TMC8, TNFRSF11A, TNFSF11, TRAF3, TRIF / TICAM1, TYK2, UNC93B1 – IEPDIII_P2_20230511

ACP5, ADAR1 (ADAR), AIRE, AP3B1, AP3D1, BACH2, BLOC1S6 (PLDN), CARMIL2 / RLTPR, CASP10, CASP8, CD27, CD70, CECR1 (ADA2), CTLA4, CTPS1, FAAP24 / C19ORF40, FADD, FAS, FASLG, FOXP3, IFIH1, IL10, IL10RA, IL10RB, IL2RA, ITCH, ITK, JAK1, LRBA, LYST, MAGT1, NFAT5, PEPD, PRF1, PRKCD, RAB27A, RASGRP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH2D1A, STAT3, STING1 / TMEM173, STX11, STXBP2, TPP2, TREX1, UNC13D, XIAP, ZAP70, ZNF341 – EPDRI_P2_20230511

C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFI, CFP, FCN3, ITGAM, MASP2, SERPING1, THBD – IEPDSC_P2_20230511

ACP5, ADA2 / CECR1, ADAM17, ADAR, AP1S3, CARD14, CECR1, COPA, DDX58, ELANE, IFIH1, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN / FAM105B, PLCG2, POLA1, PRG4, PSENEN, PSMB4, PSMB8, PSMB9, PSTPIP1, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH3BP2, SLC29A3, TMEM173, TNFAIP3, TNFRSF1A, TREX1, TRNT1 – IEPDAI_P2_20230511

ATP6AP1, CD19, CD27, CD81, CR2, CTLA4, CXCR4, DCLRE1C, ICOS, IKZF1, IL21, IL21R, IRF2BP2, JAK3, KDM6A, LRBA, MS4A1, NFKB1, NFKB2, PIK3CD, PIK3R1, PLCG2, PRKCD, RAC2, RAG1, RAG2, STAT3, STXBP2, TNFRSF13B, TNFRSF13C, TNFSF12 – EPICV_P1_11052022

ACD, ADA, AK2, ARPC1B, ATM, B2M, BCL10, BCL11B, BLM, CARD11, CARMIL2 / RLTPR, CCBE1, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CHD7, CIITA, CORO1A, CTC1, CTPS1, CXCR4, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, EPG5, ERBIN / ERBB2IP, ERCC6L2, EXTL3, FAT4, FCHO1, FNIP1, FOXN1, HELLS, ICOS, ICOSLG, IFNGR1, IKBKB, IKZF1, IL12RB1, IL21, IL21R, IL2RA, IL2RG, IL6R, IL6ST, IL7R, IRF8, ITGB2, ITK, JAK3, KDM6A, KMT2D, LAT, LCK, LIG1, LIG4, LRBA, MAGT1, MALT1, MCM4, MSN, MTHFD1, MYSM1, NBN, NFE2L2, NFKBIA, NHEJ1, NHP2, NOP10, NSMCE3 / NDNL2, ORAI1, PARN, PAX1, PGM3, PIK3CD, PMS2, PNP, POLD1, POLE, POLE2, PRKDC, PTPRC, RAC2, RAG1, RAG2, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RMRP*, RNF168, RNF31, RTEL1, SEMA3E, SGPL1, SH2D1A, SKIV2L, SLC46A1, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STN1 / OBFC1, TAP1, TAP2, TAPBP, TBX1, TCN2, TERC*, TERT, TFRC, TINF2, TNFRSF4, TP63, TTC37, TTC7A, TYK2, UNC119, WAS, WIPF1, ZAP70, ZBTB24, ZNF341, DCLRE1B, RBCK1, NEMO / IKBKG, NBN / NBS1, GINS1, IKBKG, SAMD9, SAMD9L, WRAP53 – IEPIDC_P2_20230511; Genes estudados por sequência de Sanger

ACD, ACP5, ACTB, ADA, ADA2 / CECR1, ADAM17, AICDA, AIRE, AK2, ALPI, AP1S3, AP3B1, AP3D1, APOL1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2 / RLTPR, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CEBPE, CFB, CFH, CFHR1, CFI, CFP, CIB1, CIITA, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CXCR4, CYBA, DCLRE1B, DCLRE1C, DDX58, DEF6, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, ELANE, ELF4, EPG5, ERBIN / ERBB2IP, ERCC6L2, EXTL3, F12, FAAP24 / C19ORF40, FADD, FAS, FASLG, FAT4, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FNIP1, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA2, GFI1, GINS1, HAVCR2, HELLS, HMOX1, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR2, IFNGR1, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IKZF3, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, ISG15, ITCH, ITGAM, ITGB2, ITK, JAK1, JAK3, KDM6A, KMT2A, KMT2D, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MASP2, MCM4, MEFV, MOGS, MPEG1, MRE11 / MRE11A, MRTFA / MKL1, MSH6, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN / NBS1, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NEMO / IKBKG, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP3, NOD2, NOP10, NSMCE3 / NDNL2, ORAI1, PAX1, PGM3, PIK3CD, PLCG2, PLEKHM1, PLG, PMS2, PNP, POLA1, POLD1, POLE, POLE2, POMP, PRF1, PRG4, PRKDC, PSENEN, PSMB4, PSMB8, PSMB9, PSTPIP1, PTEN, PTPRC, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RECQL4, RELA, RELB, RFX5, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, SAMD9, SAMHD1, SERPING1, SGPL1, SH2D1A, SKIC3 / TTC37, SLC29A3, SLC35C1, SLC39A7, SLC46A1, SOCS1, SP110, SPINK5, SPPL2A, SRP54, STAT5B, STIM1, STING1 / TMEM173, STK4, STN1 / OBFC1, TAP1, TAP2, TAPBP, TBK1, TBX1, TCIRG1, TCN2, TERC*, TERT, TFRC, TINF2, TIRAP, TMC6, TMEM173, TNFRSF11A, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TOP2B, TP63, TPP2, TRAC, TRAF3, TRAF3IP2, TRIM22, TRNT1, TTC7A, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, WRAP53, ZNFX1, ADAR, BCL11B, CDCA7, CFD, CHD7, CLCN7, CTC1, CTSC, CYBB, DBR1, HAX1, IFNGR2, IL10, IL21, JAGN1, MS4A1, NLRP12, OAS1, OSTM1, OTULIN / FAM105B, PARN, PEPD, PIK3CG, PIK3R1, PRKCD, PSEN1, RAB27A, RANBP2, RFXANK, RFXAP, RHOH, RMRP*, RNF31, RPSA, RTEL1, SAMD9L, SASH3, SBDS, SEMA3E, SH3BP2, SKIV2L, SLC37A4, SLC7A7, SMARCAL1, SMARCD2, SNX10, STAT1, STAT2, STAT3, STX11, STXBP2, SYK, TAZ, TCF3, TGFB1, THBD, TICAM1, TLR3, TLR8, TMC8, TNFAIP3, TNFRSF13B, TREX1, TTC37, TYK2, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341; *Genes estudados por sequência de Sanger

ABCA3, ACVRL1, AP3B1, ASAH1, ASCL1, BDNF, BLOC1S3, BLOC1S6 (PLDN), BMPR2, CASR, CCDC39, CCDC40, CFTR, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, ELMOD2, ELN, ENG, FAM111B, FBLN5, FLCN, FOXF1, GBA, GDNF, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA3, LTBP4, MUC5B, NAF1, NF1, NKX2-1, NME8 (TXNDC3), PARN, PHOX2B, RET, RSPH4A, RSPH9, RTEL1, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC34A2, SLC7A7, SMAD9, SMPD1, STAT3, STRA6, TERC*, TERT, TINF2, TMEM173, TSC1, TSC2, Polimorfismo MUC5B (rs35705950)* – EPFPF_P2_20230606; *Genes estudados por sequência de Sanger

ADA, ADAM17, AICDA, ARPC1B, BTK, CD3G, CD40LG, CD55, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, EPCAM, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IKBKG, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, ITCH, ITGB2, LIG4, LRBA, MALT1, MASP2, MEFV, MVK, MYO5B, NCF1, NCF2, NCF4, NEUROG3, NLRC4, NOD2, NPC1, OTULIN (FAM105B), PIK3CD, PIK3R1, PLCG2, PTEN, RAG1, RAG2, RIPK2, RTEL1, SAMD9, SH2D1A, SKIV2L, SLC37A4, STAT1, STAT3, STXBP2, TGFBR1, TGFBR2, TNFAIP3, TRIM22, TTC37, TTC7A, WAS, XIAP, ZAP70 – IEPDIIIP_P1_22022022

ADCY3, CCDC141, CHD7, DCC, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IGSF10, IL17RD, KAL1, KISS1, KISS1R, KLB, LEP, LEPR, LHB, LHX3, NELF, NR0B1, PCSK1, PLXNA1, PROK2, PROKR2, PROP1, SEMA3A, SOX10, SOX2, SPRY4, TAC3, TACR3, TCF12, WDR11 – IEPSK_P1_22022022

ABCA12, ABCA4, ACACB, ACBD5, ACSS2, ACTB, ACTC1, ACTG1, AHDC1, ALG9, ALX1, ALX3, AMELX, ANKRD11, ARCN1, ARHGAP29, ARHGAP31, ARID5B, ASXL1, ATR, ATRX, B3GALT6, B3GALTL, B3GAT3, B4GALT7, BCOR, BMP2, BMP4, BMS1, BUB1B, C2CD3, C3orf64, C5orf42, CADPS, CANT1, CASK, CBFB, CC2D2A, CDC45, CDH1, CDH19, CDKN1C, CDON, CFDP1, CHD1, CHD7, CHN2, CHRNA7, CHRNG, CHST14, CHSY1, CKAP2L, CLPTM1, CLPTM1L, COG5, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, CRISPLD2, CTCF, CTNND1, DAB1, DDX3X, DDX59, DEAF1, DENND4B, DHCR7, DHODH, DIS3L2, DLG1, DLL4, DLX4, DNMT3B, DOCK6, DUSP22, DVL1, DVL3, DYNC2H1, DYNC2LI1, EBP, EDNRA, EFNB1, EFTUD2, EIF2S3, EPG5, ESCO2, ESRP2, EVC2, EYA1, FAM111A, FAM123B, FAM20C, FANCL, FBLN1, FGD1, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FOXC2, FOXE1, FOXF2, FOXP2, FRAS1, FREM2, FTO, FZD6, GATA3, GATA6, GDF1, GJA1, GLI2, GLI3, GMNN, GNB1, GPC3, GPC6, GREM1, GRHL3, GRIP1, GYPE, HDAC8, HOXA2, HYAL2, HYLS1, ICK, IFT140, IFT172, IFT52, IFT80, IFT88, IGF1R, IMPAD1, INPPL1, IRF6, ISM1, JAG2, KAL1, KAT6A, KAT6B, KCNJ2, KDM1A, KDM6A, KIAA0196, KIAA0586, KIAA1279, KIF22, KIF7, KLF4, LHX8, LMNA, LMX1B, LRP8, MAFB, MAP3K7, MAPRE2, MASP1, MBTPS2, MED12, MED13L, MED25, MEIS2, MEOX1, METTL23, MIB1, MID1, MKS1, MLL2, MN1, MNF1, MSX1, MSX2, MYH3, NBAS, NBN, NEDD4L, NEK1, NIPBL, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NSDHL, NSL1, NTN1, NUDT6, OFD1, PAX3, PAX7, PAX9, PDGFC, PDGFRA, PGAP2, PGM1, PHF8, PHGDH, PHYH, PIBF1, PIEZO2, PIGA, PIGL, PIGN, PIGV, PIK3R2, PLEKHA5, PLEKHA7, POLR1C, POLR1D, POMT1, POMT2, PORCN, PPP1R21, PQBP1, PREPL, PRICKLE1, PSAT1, PTCH1, PTDSS1, PTHLH, PTPRS, PVRL1, PVRL2, RAI1, RARB, RBM10, RBM8A, RBPJ, RIMS3, RIPK4, ROR2, RPGRIP1L, RPL5, RPS19, RPS26, RPS28, RYK, RYR1, SALL4, SATB2, SCARF2, SEC23A, SEMA3E, SEPT9, SF3B4, SHH, SIX1, SIX3, SIX5, SKI, SLC26A2, SMAD2, SMAD3, SMAD4, SMC1A, SMC3, SMG9, SMOC1, SMS, SNAP29, SNRPB, SNTG1, SON, SOX2, SOX9, SP8, SPECC1L, SPRY2, SPRY4, STAMBP, STIL, STRA6, STXBP1, SUMO1, TBX1, TBX10, TBX15, TBX2, TBX22, TCOF1, TCTN3, TELO2, TFAP2A, TGDS, TGFB1, TGFB3, TGFBR1, TGFBR2, TGIF1, TMCO1, TMEM8C, TP63, TRAPPC9, TRIM37, TTC21B, TUBB, TWIST2, TXNL4A, TXNRD2, UBB, UFD1L, UGT1A9, VAX1, WDR11, WDR19, WDR34, WDR35, WDR60, WDR65, WNT3, WNT5A, WNT7A, XYLT1, YAP1, YWHAE, ZBTB24, ZEB2, ZIC2, ZIC3, ZMPSTE24, ZSWIM6 – IEPF_P1_22022022

ACVRL1, ADAMTS3, ANGPT2, ANTXR1, ARAF, BMPR2, BRAF, CAV1, CBL, CCBE1, CCM2, CELSR1, DCHS1, DOCK6, EIF2AK4, ELMO2, ENG, EPHB4, FAT4, FLT4, FOXC2, FOXF1, GATA2, GDF2/BMP9, GJA1, GJC2, GLMN, GNAQ, HGF, HRAS, IKBKG, ITGA9, KCNK3, KDR, KIF11, KRAS, KRIT1, MAP2K1, MAP3K3, MDFIC, MET, NRAS, PDCD10/CCM3, PIEZO1, PIK3CA, PTEN, PTPN11, PTPN14, RASA1, RIT1, SHOC2, SMAD4, SMAD9, SOS1, SOX18, STAMBP, TEK, VEGFC – IEPMVL_P1_28032023

ATP8B1, CASR, CCL2, CEL, CFTR, CLDN2, CPA1, CTRB1, CTRB2, CTRC, CTSB, CXCL8, KRT8, MORC4, PRSS1, SPINK1 – EPPH_P1_01072022

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, CYP7A1, EPHX2, GHR, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, MYLIP, NPC1L1, PCSK9, PPP1R17, SAR1B, SCARB1, SLCO1B1 – EPDL_P1_01072022

ABCB11, ABCB4, ABCC2, ADK, AKR1D1, ALDOB, ATP7B, ATP8B1, BAAT, CC2D2A, CFTR, CLDN1, COG7, CYP27A1, DCDC2, DGUOK, FAH, GALT, GBA, GBE1, HADHA, HNF1B, HSD3B7, INVS, JAG1, LIPA, MPI, MPV17, MVK, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, POLG, SLC25A13, SMPD1, TALDO1, TJP2, TRMU, UGT1A1, VIPAS39 (C14orf133), VPS33B, AMACR, BCS1L, CYP7B1, GNAS, HAMP, HFE, HFE2, IARS, MKS1, NPHP3, PKHD1, TFR2, TMEM216, ABCD3, ABCG5, ABCG8, ARG1, CYP7A1, DHCR7, EHHADH, EPHX1, GPBAR1, HSD17B4, MYO5B, NPHP1, NPHP4, PEX11B, PEX5, PEX7, SCP2, SERPINA1, SLC10A1, SLC10A2, SLC27A5, SLC30A10, SLC40A1, UTP4 (CIRH1A), FARSB, NBAS, USP53, YARS, ZFYVE19 – IEPCA_P1_22022022

Acreditação e Qualidade

O Laboratório de Genética Médica do Ipatimup rege toda a sua atividade pelas indicações do Instituto Português de Acreditação (IPAC), de acordo com a ISO 15189.