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Primaire immuundeficienties

Autoinflammatoir PID01v21.1

65 genen

Genpanel dekking 15X: 99.5 %

PID01v21.1
06-07-2023
TREX1
PRKCD
DNASE1L3
SH3BP2
WDR1
OTULIN
TMEM173
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
LSM1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
TNFRSF11A
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
NLRP7
RBCK1
SAMHD1
IL10RB
CECR1
USP18
UBA1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN
IL1RN
IFIH1
AP1S3
TRNT1
TREX1
PRKCD
DNASE1L3
WDR1
OTULIN
TMEM173
LSM11
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
RBCK1
FERMT1
SAMHD1
IL10RB
CECR1
USP18
UBA1
IL1RN
NCSTN
IL10
NLRP3
NLRC4
IL36RN
SH3BP2
PSMB8
IL10RA
TNFRSF1A
MVK
PSTPIP1
MEFV
NOD2
PLCG2
CARD14
LPIN2
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PSMB4
NCSTN
IL10
NLRP3
NLRC4
IL36RN
IL1RN
AP1S3
SH3BP2
OTULIN
TMEM173
PSMB8
PSMB9
TNFAIP3
SLC29A3
IL10RA
IL1RN
IFIH1
AP1S3
TRNT1
TNFRSF1A
MVK
PSMA3
PSTPIP1
MEFV
NOD2
PLCG2
NLRP1
CARD14
LPIN2
TNFRSF11A
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Autoinflammatoir PID01v22.1

63 genen

Genpanel dekking 15X: 99.7 %

PID01v22.1
06-07-2023
TREX1
PRKCD
DNASE1L3
SH3BP2
WDR1
OTULIN
TMEM173
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
LSM1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
TNFRSF11A
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
NLRP7
RBCK1
SAMHD1
IL10RB
CECR1
USP18
UBA1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN
IL1RN
IFIH1
AP1S3
TRNT1
TREX1
PRKCD
DNASE1L3
WDR1
OTULIN
TMEM173
LSM11
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
RBCK1
FERMT1
SAMHD1
IL10RB
CECR1
USP18
UBA1
IL1RN
NCSTN
IL10
NLRP3
NLRC4
IL36RN
SH3BP2
PSMB8
IL10RA
TNFRSF1A
MVK
PSTPIP1
MEFV
NOD2
PLCG2
CARD14
LPIN2
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PSMB4
NCSTN
IL10
NLRP3
NLRC4
IL36RN
IL1RN
AP1S3
SH3BP2
OTULIN
TMEM173
PSMB8
PSMB9
TNFAIP3
SLC29A3
IL10RA
IL1RN
IFIH1
AP1S3
TRNT1
TNFRSF1A
MVK
PSMA3
PSTPIP1
MEFV
NOD2
PLCG2
NLRP1
CARD14
LPIN2
TNFRSF11A
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Autoinflammatoir PID01v17.1

23 genen

Genpanel dekking 15X: 99.6 %

PID01v17.1
06-07-2023
TREX1
PRKCD
DNASE1L3
SH3BP2
WDR1
OTULIN
TMEM173
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
LSM1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
TNFRSF11A
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
NLRP7
RBCK1
SAMHD1
IL10RB
CECR1
USP18
UBA1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN
IL1RN
IFIH1
AP1S3
TRNT1
TREX1
PRKCD
DNASE1L3
WDR1
OTULIN
TMEM173
LSM11
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
RBCK1
FERMT1
SAMHD1
IL10RB
CECR1
USP18
UBA1
IL1RN
NCSTN
IL10
NLRP3
NLRC4
IL36RN
SH3BP2
PSMB8
IL10RA
TNFRSF1A
MVK
PSTPIP1
MEFV
NOD2
PLCG2
CARD14
LPIN2
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PSMB4
NCSTN
IL10
NLRP3
NLRC4
IL36RN
IL1RN
AP1S3
SH3BP2
OTULIN
TMEM173
PSMB8
PSMB9
TNFAIP3
SLC29A3
IL10RA
IL1RN
IFIH1
AP1S3
TRNT1
TNFRSF1A
MVK
PSMA3
PSTPIP1
MEFV
NOD2
PLCG2
NLRP1
CARD14
LPIN2
TNFRSF11A
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Autoinflammatoir PID01v17.2

33 genen

Genpanel dekking 15X: 99.5 %

PID01v17.2
06-07-2023
TREX1
PRKCD
DNASE1L3
SH3BP2
WDR1
OTULIN
TMEM173
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
LSM1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
TNFRSF11A
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
NLRP7
RBCK1
SAMHD1
IL10RB
CECR1
USP18
UBA1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN
IL1RN
IFIH1
AP1S3
TRNT1
TREX1
PRKCD
DNASE1L3
WDR1
OTULIN
TMEM173
LSM11
RIPK1
PSMB8
PSMB9
TNFAIP3
IKZF1
DDX58
SLC29A3
RNASEH2C
IL10RA
TNFRSF1A
NCKAP1L
STAT2
MVK
POMP
LACC1
RNASEH2B
CEBPE
RNF31
PSMA3
PSTPIP1
MEFV
DNASE1
NOD2
PLCG2
NLRP1
CARD14
LPIN2
PSMG2
ACP5
RNASEH2A
DNASE2
EMR2
PEPD
PSENEN
NLRP12
RBCK1
FERMT1
SAMHD1
IL10RB
CECR1
USP18
UBA1
IL1RN
NCSTN
IL10
NLRP3
NLRC4
IL36RN
SH3BP2
PSMB8
IL10RA
TNFRSF1A
MVK
PSTPIP1
MEFV
NOD2
PLCG2
CARD14
LPIN2
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PSMB4
NCSTN
IL10
NLRP3
NLRC4
IL36RN
IL1RN
AP1S3
SH3BP2
OTULIN
TMEM173
PSMB8
PSMB9
TNFAIP3
SLC29A3
IL10RA
IL1RN
IFIH1
AP1S3
TRNT1
TNFRSF1A
MVK
PSMA3
PSTPIP1
MEFV
NOD2
PLCG2
NLRP1
CARD14
LPIN2
TNFRSF11A
PSENEN
NLRP12
NLRP7
RBCK1
IL10RB
CECR1
PIK3CD
PSMB4
ADAR
COPA
NCSTN
IL10
NLRP3
ADAM17
NLRC4
IL36RN

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

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