Gen-Panel
Mikrozephalie, umfassende Diagnostik: ID069.02, 129 Gene
ADARB1,
ANKLE2,
ARCN1,
ARFGEF2,
ASPM,
ATR,
BLM,
CARS1,
CASK,
CDK5RAP2,
CDK6,
CENPE,
CENPF,
CENPT,
CEP63,
CEP135,
CEP152,
CIT,
CKAP2L,
COPB1,
COPB2,
CPAP,
CRIPT,
CTNNB1,
CTU2,
DIAPH1,
DNA2,
DNMT3A,
DONSON,
DPP6,
DYNC1I2,
DYRK1A,
EFTUD2,
EIF2S3,
ERCC1,
ERCC2,
ERCC5,
ERCC6,
EXOC8,
EXT2,
FOXG1,
GEMIN4,
GPT2,
IER3IP1,
KAT6A,
KATNB1,
KCNA4,
KIF11,
KIF14,
KNL1,
LAGE3,
LMNB1,
LMNB2,
MCPH1,
MED17,
MFSD2A,
MSMO1,
MTHFS,
MYCN,
NARS1,
NBN,
NCAPD2,
NCAPD3,
NCAPH,
NDE1,
NHEJ1,
NIN,
NSMCE2,
NUP37,
NUP107,
NUP133,
OCLN,
OSGEP,
PCDH12,
PCNT,
PHC1,
PHGDH,
PLAA,
PLEKHG2,
PLK4,
PNKP,
PPP1R15B,
PQBP1,
PRUNE1,
PSAT1,
PUS3,
PUS7,
QARS1,
RAB3GAP1,
RAB3GAP2,
RAB18,
RAD50,
RBBP8,
RTTN,
SARS1,
SASS6,
SLC1A4,
SLC9A6,
SLC25A19,
SMPD4,
SPOP,
STAG2,
STAMBP,
STIL,
SVBP,
TBC1D20,
THOC6,
TMX2,
TOP3A,
TP53RK,
TPRKB,
TRAIP,
TRAPPC6B,
TRAPPC14,
TRIO,
TRMT10A,
TUBGCP2,
TUBGCP4,
TUBGCP6,
VARS1,
VPS13B,
WDFY3,
WDR4,
WDR62,
WDR73,
XRCC4,
YIPF5,
ZEB2,
ZNF335
Inkludierte Phänotypen
Galloway-Mowat-Syndrom (GAMOS): 8 Gene
LAGE3,
NUP107,
NUP133,
OSGEP,
TP53RK,
TPRKB,
WDR4,
WDR73
Mikrozephalie und Chorioretinopathie (MCCRP): 4 Gene
KIF11,
PLK4,
TUBGCP4,
TUBGCP6
Neurologische Entwicklungsstörung mit Mikrozephalie (NEDM): 21 Gene
ADARB1,
COPB1,
CTNNB1,
DYNC1I2,
EXOC8,
GEMIN4,
GPT2,
MFSD2A,
MTHFS,
NARS1,
PLAA,
PRUNE1,
PUS3,
SARS1,
SMPD4,
SPOP,
STAG2,
SVBP,
TMX2,
TRAPPC6B,
VARS1
Primäre Mikrozephalie (MCPH): 25 Gene
ANKLE2,
ASPM,
CDK5RAP2,
CDK6,
CENPE,
CEP135,
CEP152,
CIT,
COPB2,
CPAP,
KIF14,
KNL1,
MCPH1,
MFSD2A,
NCAPD2,
NCAPD3,
NCAPH,
NUP37,
PHC1,
SASS6,
STIL,
TRAPPC14,
WDFY3,
WDR62,
ZNF335
Seckel-Syndrom (SCKL): 9 Gene
ATR,
CEP63,
CEP152,
CPAP,
DNA2,
NIN,
NSMCE2,
RBBP8,
TRAIP
Warburg-Mikro-Syndrom (WARBM): 4 Gene
RAB3GAP1,
RAB3GAP2,
RAB18,
TBC1D20
Zerebrookulofazioskelettales Syndrom (COFS): 4 Gene
ERCC1,
ERCC2,
ERCC5,
ERCC6
HPO Terms
Microcephaly, Abnormal brain MRI, Abnormal brain morphology, Seizure, Speech delay, Developmental delay, Intellectual disability, Growth retardation, Visual impairment, Hearing impairment, Abnormal gait, Abnormal head circumference, Hypotonia, Abnormal head shape, Abnormal brain volume, Cognitive impairment, Abnormal muscle tone, Brain atrophy, Abnormal neurologic examination, Abnormal cognition
