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פאנלים

Brain malformation

GC_61

Last update: 07.01.2026

Brain malformations are a diverse group of developmental disorders caused by abnormalities in neuronal proliferation, migration, cortical organization, or midline brain development. They commonly present with structural abnormalities on brain imaging and are frequently associated with developmental delay, intellectual disability, epilepsy, or additional congenital anomalies.

This panel includes genes associated with the major malformations of cortical development, including lissencephaly, polymicrogyria, agenesis of the corpus callosum, cerebellar malformations, tubulinopathies, ciliopathies, and syndromic neurodevelopmental disorders. Representative genes include DCX, PAFAH1B1, TUBA1A, RELN, ARX, FLNA, PIK3CA, TUBB2B, TUBG1, and LAMA1.

This panel is recommended for patients with structural brain abnormalities identified by neuroimaging, developmental delay with brain malformations, epilepsy associated with malformations of cortical development, or syndromic presentations involving the central nervous system
ACTB, ACTG1, ADGRG1, ADNP, AHDC1, AHI1, AKT1, AKT3, AMPD2, APC2, ARF1, ARFGEF2, ARID1A, ARID1B, ARX, ASNS, ASPM, ATP1A2, ATP1A3, ATP6V0A2, B3GALNT2, B4GAT1, BMP4, C19ORF12, CASK, CASP2, CCM2, CCND2, CDH2, CDK13, CDK5, CDK5RAP2, CDON, CENPE, CEP152, CEP85L, CHMP1A, CHN1, CIT, CNOT1, CNOT3, COASY, COL18A1, COL3A1, COL4A1, COL4A2, CP, CRADD, CRPPA, CSNK2A1, CTNNA2, CUL4B, DAG1, DCC, DCHS1, DCX, DEPDC5, DHCR7, DIAPH1, DISP1, DLL1, DMXL2, DOCK6, DPF2, DPYSL5, DYNC1H1, EIF2AK2, EMC1, EML1, EMX2, ERMARD, EXOSC3, FA2H, FAT4, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FOXA2, FTL, GAS1, GLI2, GMPPB, GPSM2, GRIN1, GRIN2B, H3-3A, HECTD4, HIVEP2, HS2ST1, IER3IP1, IQSEC2, KATNB1, KCNMA1, KIF11, KIF21A, KIF26A, KIF2A, KIF5C, KIF7, KIFBP, KMT2D, KMT2E, KRIT1, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LARGE1, LRP2, MACF1, MAP1B, MAPK8IP3, MAX, MED12, MED17, MFSD2A, MN1, MRE11, MTOR, NDE1, NEDD4L, NFIA, NPRL2, NPRL3, NSRP1, OCLN, OPHN1, OSGEP, PAFAH1B1, PANK2, PDCD10, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHGDH, PI4KA, PIDD1, PIK3CA, PIK3R2, PLA2G6, PLCH1, PNKP, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1R12A, PROK2, PROKR2, PTCH1, PTEN, QARS1, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAC3, RAD21, RARS2, RASA1, RBM10, RELN, RERE, ROBO3, RTTN, RXYLT1, SCN3A, SEPSECS, SHH, SIN3A, SIX3, SLC25A19, SLC35A2, SMARCA4, SMARCB1, SMARCC1, SMARCE1, SMC1A, SMO, SNAP29, SON, SOX11, SOX2, SRD5A3, STAG2, STAMBP, STIL, SUFU, TBC1D20, TBC1D32, TGIF1, TMTC3, TMX2, TOE1, TP73, TRRAP, TSC1, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP6, UBE3B, USP7, USP9X, VLDLR, VPS13A, VPS50, VRK1, WDR45, WDR62, WNK3, YWHAE, ZBTB18, ZBTB20, ZIC2, ZMIZ1

ClinVar P/LP variants (IDs) not covered: ARID1B:[3378371] | PANK2:[3897668] | PEX14:[3663959] | PTEN:[2587202]

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