top of page
CL504 Genomic Center Logo v3 convert-01.png

פאנלים

Pediatric hereditary cancer

GC_74

Last update: 19.01.2026

Pediatric hereditary cancer syndromes are inherited disorders that predispose to malignancies during childhood or adolescence. They may also be associated with developmental abnormalities, congenital anomalies, characteristic physical findings, or increased risks for multiple tumor types. Early recognition may influence surveillance, treatment, and family counseling.

This panel includes genes associated with the major hereditary childhood cancer predisposition syndromes, including Li-Fraumeni syndrome, hereditary retinoblastoma, DICER1 tumor predisposition syndrome, neurofibromatosis-associated tumor predisposition, Wilms tumor predisposition, rhabdoid tumor predisposition, and other genetic disorders associated with pediatric malignancy.

This panel is recommended for children or adolescents with cancer at an unusually young age, multiple or bilateral tumors, characteristic tumor types, congenital or developmental abnormalities associated with cancer predisposition, or a personal or family history suggestive of an inherited pediatric cancer syndrome.
ABRAXAS1, ACD, ACVRL1, AIP, AKT1, ALK, ANKRD26, APC, ATM, ATRIP, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRIP1, BUB1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CTR9, CYLD, DDB2, DDX41, DGCR8, DICER1, DIS3L2, DKC1, EFL1, EGFR, ELANE, ELP1, ENG, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GPR161, GREM1, H19, HAVCR2, HNF1A, HNF1B, HOXB13, HRAS, IGF2, IKZF1, ITK, KCNQ1OT1, KDM3B, KIT, KITLG, KLLN, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MCM8, MCM9, MEN1, MET, MITF, MLH3, MSH3, MTAP, NBN, NF1, NF2, NFIX, NHP2, NOP10, NOTCH3, NRAS, NSD1, NSUN2, NTHL1, NYNRIN, PALB2, PARN, PAX5, PAX6, PDGFRA, PDGFRB, PHOX2B, PIK3CA, POLD1, POLE, POLH, POT1, PPM1D, PPP1CB, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, PTPRJ, RABL3, RAD50, RAD51C, RAD51D, RAF1, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNF43, RPS20, RRAS, RTEL1, RUNX1, SAMD9L, SBDS, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEMA4A, SH2B3, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SPRTN, SQSTM1, SRP72, STK11, SUFU, TBXT, TERC, TERT, TGFBR1, TGFBR2, TINF2, TMEM127, TNFRSF11A, TP53, TRIM28, TRIM37, TRIP13, TSC1, TSC2, VHL, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3

ClinVar P/LP variants (IDs) not covered: APC:[3882279]; [3127709]; [3127710] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | CHEK2:[2035246] | DICER1:[3840007] | ETV6:[4020046] | NF1:[242478]; [3404745] | NF2:[3404989] | POT1:[3226648] | PTEN:[2587202] | RAD51C:[3228945]; [2625143] | RB1:[4544282] | SMAD4:[3445838] | VHL:[997768]

bottom of page