Gen-Panel
Neuronale Migrationsstörungen, umfassende Diagnostik: ID180.01, 82 Gene
ACTB,
ACTG1,
ADGRG1,
AKT3,
APC2,
ARF1,
ARFGEF2,
ARX,
B3GALNT2,
B4GAT1,
CAMSAP1,
CCND2,
CDK5,
CEP85L,
COL3A1,
COL4A1,
COL4A2,
COLGALT1,
CRADD,
CRPPA,
CTNNA2,
DAG1,
DCHS1,
DCX,
DYNC1H1,
EML1,
EMX2,
ERMARD,
FAT4,
FH,
FIG4,
FKRP,
FKTN,
FLNA,
GMPPB,
KATNB1,
KIF2A,
KIF5C,
KIF26A,
KIFBP,
LAMB1,
LAMC3,
LARGE1,
MACF1,
MAP1B,
MTOR,
NDE1,
NEDD4L,
OCLN,
PAFAH1B1,
PHGDH,
PI4KA,
PIK3CA,
PIK3R2,
POMGNT1,
POMGNT2,
POMK,
POMT1,
POMT2,
PSAT1,
RAB3GAP1,
RAB3GAP2,
RAB18,
RAC3,
RELN,
RTTN,
RXYLT1,
SHH,
SIX3,
TBC1D20,
TMTC3,
TSC1,
TSC2,
TUBA1A,
TUBA8,
TUBB,
TUBB2A,
TUBB2B,
TUBB3,
TUBG1,
TUBGCP2,
WDR62
Inkludierte Phänotypen
Komplexe kortikale Dysplasie (CDCBM): 13 Gene
APC2,
CAMSAP1,
CTNNA2,
DYNC1H1,
KIF2A,
KIF5C,
KIF26A,
TUBA1A,
TUBB,
TUBB2A,
TUBB2B,
TUBB3,
TUBG1
Lissenzephalie (LIS): 12 Gene
ARX,
CDK5,
CEP85L,
DCX,
KATNB1,
LAMB1,
MACF1,
NDE1,
PAFAH1B1,
RELN,
TMTC3,
TUBA1A
Periventrikuläre noduläre Heterotopie (PVNH): 6 Gene
ARF1,
ARFGEF2,
ERMARD,
FLNA,
MAP1B,
NEDD4L
Polymikrogyrie: 15 Gene
ADGRG1,
AKT3,
CCND2,
COL3A1,
FIG4,
KIFBP,
OCLN,
PI4KA,
PIK3CA,
PIK3R2,
RTTN,
TUBA1A,
TUBA8,
TUBB2B,
WDR62
Schizenzephalie: 7 Gene
COL4A1,
COL4A2,
COLGALT1,
EMX2,
SHH,
SIX3,
WDR62
Walker-Warburg-Syndrom (MDDGA): 14 Gene
B3GALNT2,
B4GAT1,
CRPPA,
DAG1,
FKRP,
FKTN,
GMPPB,
LARGE1,
POMGNT1,
POMGNT2,
POMK,
POMT1,
POMT2,
RXYLT1
HPO Terms
Polymicrogyria, Lissencephaly, Schizencephaly, Corpus callosum agenesis, Periventricular heterotopia, Cerebral malformation, Seizure, Developmental delay, Intellectual disability, Hydrocephalus, Cerebellar hypoplasia, Brain atrophy, Abnormal neuronal migration, Microcephaly, Macrocephaly, Brain malformation, Cortical dysplasia, Epilepsy, Abnormal brain structure, Abnormal cortical development
