Terug
Neuromusculaire ziekten
Hereditaire spastische paraparese (HSP) NEM26v19.1
57 genen
Genpanel dekking 15X: 99.8 %
57 genen
Genpanel dekking 15X: 99.8 %
NEM26v19.1
06-07-2023
AMPD2
AP4B1
GJC2
IBA57
SPAST
REEP1
HSPD1
MARS2
ALS2
KIF1A
TFG
SLC33A1
CYP2U1
FARS2
AP5Z1
AP4M1
VPS37A
ERLIN2
DDHD2
CYP7B1
KIAA0196
GBA2
MTPAP
ALDH18A1
ENTPD1
ZFYVE27
ERLIN1
NT5C2
BSCL2
CAPN1
VAMP1
KIF5A
B4GALNT1
C12orf65
SACS
SPG20
AP4S1
ATL1
DDHD1
ZFYVE26
TECPR2
NIPA1
SPG11
AP4E1
SPG21
ARL6IP1
FA2H
SPG7
KIF1C
ALDH3A2
AFG3L2
PNPLA6
C19orf12
MAG
RTN2
PLP1
L1CAM
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Hereditaire spastische paraparese (HSP) NMZ03v24.1
92 genen
Genpanel dekking 15X: 100 %
92 genen
Genpanel dekking 15X: 100 %
NMZ03v24.1
15-07-2026
ATP13A2
SLC2A1
HPDL
KCNA2
AP4B1
ADAR
RAB3GAP2
GJC2
IBA57
KIDINS220
SPAST
REEP1
HSPD1
ALS2
CYP27A1
KIF1A
GBE1
TFG
SLC33A1
UCHL1
AIMP1
CYP2U1
FAM134B
REEP2
FARS2
ABHD16A
HACE1
GJA1
ARG1
SERAC1
AP5Z1
AP4M1
ERLIN2
DDHD2
RNF170
CYP7B1
KIAA0196
UBAP1
GBA2
FXN
COQ4
SPTAN1
POLR3A
ALDH18A1
ENTPD1
ERLIN1
NT5C2
NKX6-2
FAR1
BSCL2
CAPN1
MARS
KIF5A
B4GALNT1
NDUFA12
C12orf65
SACS
SPG20
SLC25A15
KPNA3
RNASEH2B
AP4S1
ATL1
DDHD1
GCH1
ZFYVE26
GALC
TECPR2
NIPA1
SPG11
AP4E1
SPG21
MAPK8IP3
ARL6IP1
AMFR
FA2H
SPG7
KIF1C
ALDH3A2
PCYT2
AFG3L2
TUBB4A
PNPLA6
C19orf12
MAG
RTN2
CPT1C
FBXO7
SLC16A2
PLP1
ABCD1
L1CAM
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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