Anomalias do SNC

Hipoplasia cerebelosa e pontocerebelosa

Lista de Genes
AMPD2, ANKLE2, ASNS, ASPM, ATAD3A, ATR
BRF1
CACNA1G, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP164, CEP63, CHMP1A, CIT, CKAP2L, CLP1
DNA2, DYNC1H1, DYRK1A
EXOSC3, EXOSC8
FOXG1
GMNN
IER3IP1, ITPR1
KAT6A, KIF11, KNL1
LIG4
MBD5, MCPH1, MFSD2A, MRE11
NBN, NDE1, NHEJ1, NIN, NSMCE2
OPHN1, ORC1, ORC4, ORC6
PCLO, PCNT, PHC1, PLA2G6, PLK4, PNKP, PPP1R15B, PQBP1
QARS1
RARS2, RBBP8, RNF113A, RTTN
SASS6, SEPSECS, SLC25A19, SMARCA2, STAMBP, STIL, SYNE1
TBC1D23, TOE1, TRAIP, TRIO, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBGCP4, TUBGCP6
VLDLR, VPS53, VRK1
WDR62, WDR73, WDR81
ZNF335
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída