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פאנלים
Short stature
GC_59
Last update: 08.01.2026
Short stature has a broad genetic etiology ranging from isolated disorders of growth to skeletal dysplasias, endocrine abnormalities, chromosomal disorders, and multisystem developmental syndromes. Genetic causes may affect the growth hormone–IGF-1 axis, growth plate development and signaling, skeletal growth, or broader developmental pathways.
This panel includes genes associated with primary and secondary genetic causes of growth impairment, including SHOX-related disorders, skeletal dysplasias, growth plate disorders, growth hormone deficiency or insensitivity, RASopathies, and syndromic growth disorders.
This panel is recommended for patients with unexplained short stature, particularly severe short stature, significant deviation from the expected mid-parental height, disproportionate growth, inconclusive endocrine evaluation, or accompanying skeletal, developmental, dysmorphic, or other syndromic features.
ACAN, ACTB, ACTG1, AMMECR1, ANAPC1, ANKRD11, ARCN1, ATR, B3GAT3, BCS1L, BLM, BMP2, BRAF, BRCA2, BRIP1, BTK, C2CD3, CBL, CCDC186, CCDC8, CDC45, CDC6, CDKN1C, CDT1, CENPJ, CEP120, CEP152, CEP57, CEP63, CFAP410, COG4, COL27A1, CREBBP, CSPP1, CUL7, DHCR7, DONSON, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EP300, ERCC4, EVC, EVC2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXO22, FGD1, FGFR3, FN1, FOXP4, GGPS1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1, HMGA2, HRAS, IDUA, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IGF1, IGF1R, IGF2, IGFALS, INSR, INTS1, INTU, IRS1, KDM3B, KIAA0586, KIAA0753, KRAS, LARP7, LFNG, LHX3, LHX4, LRRC8C, LZTR1, MAP2K1, MAP2K2, MAPK1, MRAS, MSTO1, MTX2, NBAS, NBN, NEK1, NF1, NHLRC2, NIPBL, NLRP2, NLRP5, NLRP7, NOTCH2, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PADI6, PALB2, PCNT, PIK3R1, PISD, PITX2, PLAG1, PLK4, POC1A, POP1, POU1F1, PPP1CB, PPP3CA, PRMT7, PROP1, PTPN11, PUF60, QSOX2, RAD21, RAD51, RAF1, RALA, RAP1B, RASA2, RBBP8, RECQL4, RIT1, RNPC3, RNU4ATAC, RRAS, RRAS2, RSPRY1, RTTN, SETD5, SGMS2, SHOC2, SHOX, SLC13A1, SLF2, SLX4, SMARCA2, SMARCE1, SMC1A, SMC3, SMC5, SOS1, SOS2, SOX11, SOX2, SOX3, SPOUT1, SPRED2, SRCAP, STAT5B, TALDO1, TBX19, TBX2, TBX3, TCTN3, TOP3A, TRIM37, TRMT10A, TTC21B, UBE2T, VPS50, WDR19, WDR35, XRCC4, ZFP57, ZNF668
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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