NSD1


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AcronymDefinition
NSD1Nuclear SET Domain 1
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Genes Tested AtP ALK APC ATM BAP1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CEP57 CHEK2 CYLD DDB2 DICER1 ERCC3 ERCC4 ERCC5 EXT1 EXT2 FANCD2 FANCE FANCF FANCG FANCI GATA2 GPC3 HNF1A HOXB13 HRAS MLH1 MHS2 MSH6 MUTYH NBN PHOX2B PMS1 PMS2 PPM1D PRF1 RAD51D RBI RECQL4 RET RHBDF2 SDHC SDHD SLX4 SMAD4 SMARCA4 TP53 TSC1 TSC2 VHL WT1 BARD1 BLM BMPR1A BRCA1 CDK4 CDKN1C CDKN2A CEBPA DI53L2 EGFR EPCAM ERCC2 EZH2 FANCA FANCB FANCC FANCL FANCM FH FLCN KIT MAX MEN1 MET NF1 NF2 NSD1 PALB2 PRKAR1A PTCH1 PTEN RAD51C RUN XI SBDS SDHAF2 SDHB SMARCB1 STK11 5UFU TMEM127 WRN XPA XPC This chart shows all 98 cancer susceptible genes included in this new test.
6] Human genes: EGFR, epidermal growth factor receptor; KRAS, Kirsten rat sarcoma viral oncogene homolog; TP53, tumor protein p53; NF2, neurofibromin 2 (merlin); AKT1, v-akt murine thymoma viral oncogene homolog 1; BRAF, B-Raf proto-oncogene, serine/ threonine kinase; NRAS, neuroblastoma RAS viral (v-ras) oncogene homolog; KMT2D, lysine (K)-specific methyltransferase 2D; NSD1, nuclear receptor binding SET domain protein 1; CREB3L1, cAMP responsive element binding protein 3-like 1; TPR, translocated promoter region, nuclear basket protein; TSC2, tuberous sclerosis 2.
2,41,42) Sindromes Retardo Mental Talla * Perimetro Cefalico * Sindrome de Leve a moderado +++ + + X Fragil Sindrome Leve a +++ + + + de Sotos problemas en el aprendizaje Sindrome de Leve a moderado + + + Prader-Willi Sindrome de Ausente o leve +++ + + Klinefelter Sindromes Tamano Peso * Pruebas testicular * diagnosticas Sindrome de ++ + ++/+++ PCR, Southern X Fragil Blot Sindrome ++ + + Secuenciacion de Sotos y/o FISH gen NSD1 Sindrome de + + + + FISH 15q11.