Gen-Panel
Leukodystrophie und Leukoenzephalopathien, umfassende Diagnostik: ID204.04, 122 Gene
AARS2,
ABCD1,
ACBD5,
ACER3,
ACOX1,
ADAR,
AIFM1,
AIMP1,
AIMP2,
ALDH3A2,
ARSA,
ASPA,
AUH,
BOLA3,
CLCN2,
CLDN11,
CNP,
COA7,
COA8,
COL4A1,
COL4A2,
COX6B1,
COX15,
CSF1R,
CTC1,
CYP27A1,
D2HGDH,
DARS1,
DARS2,
DEGS1,
EARS2,
EIF2AK1,
EIF2B1,
EIF2B2,
EIF2B3,
EIF2B4,
EIF2B5,
EPRS1,
FA2H,
FDX2,
FOLR1,
FOXRED1,
FUCA1,
GALC,
GBE1,
GCDH,
GFAP,
GFM1,
GJC2,
GLB1,
HEPACAM,
HIKESHI,
HMGCL,
HSD17B4,
HSPD1,
HTRA1,
HYCC1,
IBA57,
IFIH1,
ISCA1,
ISCA2,
KARS1,
KCNT1,
L2HGDH,
LMNB1,
LYRM7,
MARS2,
MCOLN1,
MLC1,
MTFMT,
NAXD,
NAXE,
NFU1,
NKX6-2,
NOTCH3,
NUBPL,
PEX1,
PEX2,
PEX3,
PEX5,
PEX6,
PEX10,
PEX11B,
PEX12,
PEX13,
PEX16,
PEX26,
PLAA,
PLEKHG2,
PLP1,
PMPCB,
POLR1C,
POLR3A,
POLR3B,
POLR3K,
PSAP,
PYCR2,
RARS1,
RNASEH2A,
RNASEH2B,
RNASEH2C,
RNASET2,
SAMHD1,
SCP2,
SDHAF1,
SLC13A3,
SLC16A2,
SLC17A5,
SOX10,
SPTAN1,
STN1,
SUMF1,
TMEM63A,
TMEM106B,
TREM2,
TREX1,
TUBB4A,
TYMP,
TYROBP,
UFM1,
VPS11,
ZFYVE26
Inkludierte Phänotypen
Aicardi-Goutières-Syndrom (AGS): 7 Gene
ADAR,
IFIH1,
RNASEH2A,
RNASEH2B,
RNASEH2C,
SAMHD1,
TREX1
CADASIL, CARASIL: 2 Gene
HTRA1,
NOTCH3
Leukodystrophie mit Hypomyelinisierung (HLD): 22 Gene
AIMP1,
AIMP2,
CLDN11,
CNP,
DEGS1,
EPRS1,
GJC2,
HIKESHI,
HSPD1,
HYCC1,
PLP1,
POLR1C,
POLR3A,
POLR3B,
POLR3K,
PYCR2,
RARS1,
TMEM63A,
TMEM106B,
TUBB4A,
UFM1,
VPS11
Leukodystrophie mit Peroxisomenbiogenesestörung (PBD): 15 Gene
PEX1,
PEX2,
PEX3,
PEX5,
PEX6,
PEX7,
PEX10,
PEX11B,
PEX12,
PEX13,
PEX14,
PEX16,
PEX19,
PEX26,
PHYH
Metachromatische Leukodystrophie: 3 Gene
ARSA,
PSAP,
SUMF1
Orthochromatische Leukodystrophie: 10 Gene
ASPA,
CSF1R,
EIF2B1,
EIF2B2,
EIF2B3,
EIF2B4,
EIF2B5,
GFAP,
HEPACAM,
MLC1
HPO Terms
White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes
