NGS Arthrogrypose


Panel naam	NGS Arthrogrypose
Panel methode	WES-based NGS
Panel versie **	AGPv1
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC


Genen (166)	Kwaliteit	% coverage >30	% coverage >20
ACTA1	C	100	100
ACTC1	C	99.76	99.98
ADAMTS10	C	100	100
ADAMTS15	C	100	100
ADCY6	C	100	100
ADGRG6	C	100	100
ALG3	C	100	100
ANTXR2	C	100	100
ASCC1	C	100	100
ASXL1	C	100	100
ATAD1	C	100	100
ATP1A2	C	99.99	100
B3GALNT2	C	99.88	99.99
B4GAT1	C	100	100
BICD2	C	100	100
BLTP1	C	100	100
CACNA1E	C	99.99	100
CHAT	C	99.89	100
CHRNA1	C	100	100
CHRNB1	C	100	100
CHRND	C	100	100
CHRNE	C	100	100
CHRNG	C	100	100
CHST14	C	100	100
CNTN1	C	100	100
CNTNAP1	C	99.98	99.99
COASY	C	100	100
COL12A1	C	100	100
COL25A1	C	99.89	99.96
COL6A1	C	100	100
COL6A2	C	100	100
COL6A3	C	100	100
COLQ	C	100	100
CRLF1	C	97.26	98.68
CRPPA	C	100	100
DAG1	C	100	100
DHCR24	C	100	100
DNM2	C	100	100
DOK7	C	100	100
DPAGT1	C	100	100
DPM2	C	100	100
DYNC1H1	C	100	100
EBP	C	100	100
ECEL1	C	100	100
ERBB3	C	100	100
ERCC5	C	100	100
ERCC6	C	99.99	100
ERCC8	C	99.99	100
ERGIC1	C	99.95	100
EXOSC3	C	100	100
FAM20C	C	100	100
FBN2	C	100	100
FGFR2	C	100	100
FGFR3	C	100	100
FILIP1	C	100	100
FKBP10	C	100	100
FKRP	C	100	100
FKTN	C	100	100
FLNA	C	100	100
FLNB	C	100	100
FLNC	C	100	100
GBA1	C	99.89	99.99
GBE1	C	100	100
GLDN	C	100	100
GLE1	C	100	100
GMPPB	C	100	100
HSPG2	C	99.54	99.76
IRF6	C	100	100
KAT6B	C	99.99	100
KCNK3	C	100	100
KIDINS220	C	99.98	100
KIF21A	C	97.54	97.64
KLHL40	C	100	100
KLHL41	C	100	100
KLHL7	C	100	100
LAMA2	C	100	100
LARGE1	C	100	100
LGI3	C	100	100
LGI4	C	99.96	100
LMOD3	C	99.98	99.98
LMX1B	C	100	100
MAGEL2	C	100	100
MED12	C	100	100
MTM1	C	100	100
MUSK	C	100	100
MYBPC1	C	100	100
MYH3	C	100	100
MYH8	C	100	100
MYL11	C	99.97	100
MYMK	C	99.98	100
MYOD1	C	100	100
NALCN	C	100	100
NEB	C	87.28	87.75
NEK9	C	100	100
NUP88	C	100	100
ORAI1	C	100	100
PEX1	C	99.92	99.99
PEX10	C	100	100
PEX11B	C	98.42	99.96
PEX12	C	100	100
PEX13	C	100	100
PEX14	C	99.94	99.99
PEX16	C	100	100
PEX19	C	99.87	100
PEX2	C	100	100
PEX26	C	100	100
PEX3	C	99.98	100
PEX5	C	100	100
PEX6	C	100	100
PEX7	C	100	100
PFKM	C	100	100
PIEZO2	C	98.63	98.71
PIP5K1C	C	99.9	99.98
PLOD1	C	100	100
PLOD2	C	99.93	100
POMGNT1	C	99.89	99.99
POMGNT2	C	100	100
POMK	C	100	100
POMT1	C	100	100
POMT2	C	100	100
POR	C	99.99	100
PRG4	C	100	100
RAPSN	C	100	100
RIPK4	C	100	100
RXYLT1	C	99.99	100
RYR1	C	99.42	99.67
SCARF2	C	99.61	99.94
SCN1A	C	100	100
SCN4A	C	100	100
SCYL2	C	99.97	100
SELENON	C	84.45	85.74
SKI	C	99.98	100
SLC18A3	C	99.97	100
SLC29A3	C	100	100
SLC35A3	C	99.48	99.99
SLC5A7	C	99.98	100
SLC6A9	C	100	100
SMAD3	C	100	100
SMAD4	C	100	100
SMN1	C	6.4	6.4
SMPD4	C	99.7	99.91
STAC3	C	99.99	100
STIM1	C	100	100
SVIL	C	99.95	99.99
SYNE1	C	100	100
TGFB2	C	100	100
TGFB3	C	100	100
TGFBR1	C	98.33	99.28
TGFBR2	C	100	100
TNNI2	C	100	100
TNNT1	C	99.92	99.94
TNNT3	C	100	100
TOR1A	C	100	100
TOR1AIP1	C	99.94	100
TPM2	C	100	100
TPM3	C	83.58	89.31
TRIP4	C	100	100
TRPV4	C	100	100
TSEN54	C	99.66	99.92
TTN	C	99.38	99.62
UBA1	C	99.99	100
VAMP1	C	100	100
VIPAS39	C	100	100
VPS33B	C	100	100
ZC4H2	C	100	100
ZMPSTE24	C	99.98	100


Indicatie(s)
Arthrogrypose distale

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C