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Paneles de Endocrinología FOCUS



Cáncer de Páncreas Hereditario / Pancreatitis Recurrente

Genes SNVs

Screening CNVs

APC, ATM, BMPR1A, BRCA1, BRCA2, CASR, CDK4, CDKN2A, CEL, CFTR, CPA1, CTRC, MLH1, MSH2, MSH6, PALB2, PMS2, PNLIP, PRSS1, SMAD4, SPINK1, STK11, TP53

APC, ATM, BMPR1A, BRCA1, BRCA2, CDK4, CDKN2A, CFTR, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SMAD4, STK11, TP53

Deficiencia Combinada Hormona Pituitaria

Genes SNVs

HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1

Desórdenes de Diferenciación Sexual

Genes SNVs

AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARX, ATRX, CBX2, CHD7, CTNNB1, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DAZ1, DAZ2, DAZ3, DAZ4, DHCR7, DHH, DMD, DMRT1, FGD1, FGF10, FGF8, FGF9, FGFR1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA4, GK, GNRH1, GNRHR, GRIP1, HESX1, HOXA13, HS6ST1, HSD17B3, HSD3B2, INSL3, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, LHX1, LHX3, LHX4, MAMLD1, MAP3K1, MID1, NR0B1, NR3C1, NR5A1, NSMF, OTX2, PCSK1, POR, POU1F1, PROK2, PROKR2, PROP1, PTEN, ROR2, RSPO1, RXFP2, SALL1, SEMA3A, SOX10, SOX3, SOX8, SOX9, SPECC1L, SRD5A2, SRY, STAR, TAC3, TACR3, TSPYL1, USP9Y, WDR11, WNT4, WNT5A, WT1, WWOX, ZFPM2, ZFY, ZIC3

Diabetes tipo Mody

Genes SNVs

Screening CNVs

BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1

CEL, HNF1A, HNF1B, HNF4A, GCK

Hiperaldosteronismo Primario

Genes SNVs

KCNJ5, CACNA1H, CACNA1D, CLCN2

Hiperglucemia Hiperinsulinémica - Diagnóstico diferencial

Genes SNVs

ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1

Hiperinsulinismo Familiar

Genes SNVs

ABCC8, GCK, GLUD1, HADH, HNF4A, INSR, KCNJ11, SLC16A1, UCP2

Hiperparatiroidismo

Genes SNVs

Screening CNVs

CDC73, CDKN1A, CDKN1B, CDKN2C, GCM2, MEN1, RET, GNA11, AP2S1, CASR, PTH1R

CDC73

Hipogonadismo Hipogonadotrófico

Genes SNVs

ANOS1, CHD7, CUL4B, DCAF17, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GLI2, GNRH1, GNRHR, HAMP, HESX1, HFE, HS6ST1, IL17RD, KISS1, KISS1R, KLB, LHB, LHCGR, LHX3, LHX4, NR0B1, NSMF, PROK2, PROKR, PROP1, SEMA3A, SEMA3E, SEMA7A, SLC29A3, SLC40A1, SOX10, SOX2, SOX3, SPRY4, TAC3, TACR3, TFR2, WDR11, STS

Hipoparatiroidismo

Genes SNVs

AIRE, AP2S1, CASR, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PTH, PTH1R, SOX3, STX16, TBCE

Hipotiroidismo Congénito

Genes SNVs

TSHB

Insuficiencia Suprarrenal

Genes SNVs

AAAS, MC2R, MRAP, NNT, NR3C1, POMC, STAR

Osteopetrosis

Genes SNVs

AMER1, CA2, CLCN7, CSF1R, CTSK, FERMT3, HMGA2, LEMD3, OSTM1, PLEKHM1, SLC29A3, SNX10, TCIRG1, TNFRSF11A, TNFSF11

Pancreatitis Recurrente

Genes SNVs

Screening CNVs

CASR, CFTR, CTRC, PRSS1, SPINK1, CEL, PNLIP, CPA1

CFTR, PRSS1

Panhipopituitarismo Congénito

Genes SNVs

POU1F1, PROP1, LHX3 , LHX4, HESX1, OTX2, GH1, SOX2, SOX3, GLI2, PAX6

Pseudohipoparatiroidismo

Genes SNVs

GNAS, STX16

Raquitismo Hipofosfatémico Familiar

Genes SNVs

CLCN5, DMP1, ENPP1, FGF23, OCRL, PHEX, SLC34A3

Síndrome de Kallmann

Genes SNVs

ANOS1, CHD7, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HS6ST1, KISS1, KISS1R, LHB, NSMF, PROK2, PROKR2, SEMA3A, SOX10, TAC3, TACR3, WDR11

Síndrome de Pendred

Genes SNVs

Screening CNVs

FOXI1, KCNJ10, SLC26A4

SLC26A4

Síndrome Shwachman-Diamond

Genes SNVs

Screening CNVs

SBDS

SBDS

Talla baja/ Retraso de Crecimiento

Genes SNVs

Screening CNVs

ACAN, ANKRD11, ATR, ATRIP, BLM, BMPR1B, BRAF, BRF1, BTK, CBL, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CHD7, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRIPT, CUL7, DHCR7, DNA2, DVL1, EP300, ERCC6, ERCC8, FBN1, FGD1, FGFR3, GDF5, GHR, GHRHR, HDAC8, HESX1, HRAS, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, KDM6A, KMT2D, KRAS, LARP7, LHX3, LIG4, LMNA, MATN3, MCM9, NBN, NIN, NIPBL, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PCNT, PDE4D, PIK3R1, PITX2, POC1A, PRKAR1A, PTHLH, PTPN11, RAD21, RAF1, RBBP8, RECQL4, RIT1, RNU4ATAC, ROR2, SHOC2, SMARCA1, SMC1A, SMC3, SOS1, SOX2, SOX3, SOX9, SRCAP, STAT5B, TRIM37, WNT5A, XRCC4

KDM6A, KMT2D


 

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