Panel

Hereditary Neuropathies Multi-gene panel NGS

Hereditary Neuropathies Multi-gene panel NGS

Kategorie:

Importiert aus Diagnosen

Kilobasen des Panels:

keine Angaben
Beschreibung:
Schlagworte:

Gen locations (64)

AARS
ABHD12
AIFM1
ARHGEF10
BSCL2
COX6A1
CTDP1
Cx32-GJB1 / Cx32/GJB1 / GJB1
DCAF8
DCTN1
DGAT
DHTKD1
DNM2
DUX4 / DYNC1H1
FBLN5
FGD4
FIG4
GAN
GARS
GDAP1 / GDAPI
GNB4
HARS
HINT1
HK1
HSPB1
HSPB3
HSPB8
IGHMBP2
INF2
KARS
KIAA1840 / SPG11
KIAA1985 / SH3TC2
KIF1B
KIF5A
LRSAM1
MARS
MED25
MFN2
MME
MORC2
MPZ
MTMR2
NDRG1
NEFH
NEFL
PDK3
PLEKHG5
PMP22 / PMP22-dup
PNKP / PNPK
PRPS1
PRX
REEP1
SBF1
SBF2
Sep 09 / SEPT9
SLC25A46
SOX10
SURF1
TDP1
TFG
TRIM2
TRPV4
VCP
YARS2