DNAJC21 | Belgian Genetic Tests database

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Name:	DnaJ heat shock protein family (Hsp40) member C21
Symbol:	DNAJC21
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	DNAJA5 GS3 JJJ1 JJJ1 DnaJ domain protein homolog (S. cerevisiae)
XREF(s):	Orphanet HGNC Ensembl OMIM SwissProt Genatlas
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Related Gene Panels

Hematologic Familiar Forms - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
RPS7	88.11	No
CHEK2	80.48	No
PTPN11	95.76	No
KRAS	96.88	No
RPS10	98.48	No
FANCM	97.86	No
RPL35A	98.16	No
RPS24	98.39	No
ANKRD26	100.00	Genomic start 27389256 to genomic end 27389427 UTR position
RPL5	96.83	No
SHQ1	97.53	No
RPS26	98.64	No
SRP72	97.98	No
FANCL	98.99	No
EGLN1	98.71	No
JAK2	97.81	No
DNAJC21	98.55	No
NF1	96.15	No
BLM	98.77	No
SBF2	99.19	No
MSH2	98.36	No
ATM	98.90	No
ERCC4	98.33	No
RPL11	99.02	No
NBN	99.57	No
PMS2	98.87	No
ATG2B	99.33	No
BRCA2	99.11	No
ERCC6L2	99.48	No
ATR	99.19	No
VPS45	99.60	No
SRP54	99.44	No
SBDS	96.51	No
UBE2T	98.01	No
RBM8A	99.34	No
RAD51C	99.83	No
FANCC	99.72	No
FANCD2	99.00	No
BRIP1	99.61	No
BRCA1	99.80	No
CEBPA	99.48	No
PARN	99.84	No
MSH6	99.84	No
MECOM	99.83	No
PALB2	99.80	No
FANCE	97.83	No
PAX5	99.72	No
RAD51	99.94	No
ATRX	99.85	No
FANCB	99.61	No
FANCI	99.66	No
STN1	99.75	No
NHP2	99.79	No
MLH1	99.86	No
TERT	100.00	Genomic start 1295105 to genomic end 1295162 UTR position
XRCC2	99.97	No
FANCA	99.93	No
EPAS1	99.62	No
TET2	99.97	No
HAX1	99.98	No
SLX4	99.98	No
CBL	99.87	No
WAS	99.90	No
USB1	100.00	No
EPO	99.99	No
VHL	99.98	No
MAD2L2	100.00	No
RUNX1	99.94	No
CTC1	99.99	No
GSKIP	99.99	No
DKC1	100.00	Genomic start 153991031 to genomic end 153991240 UTR position
SAMD9L	99.96	No
MPL	99.99	No
ETV6	100.00	No
LIG4	99.98	No
NOP10	99.99	No
G6PC3	100.00	No
CSF3R	100.00	No
SAMD9	100.00	No
ELANE	100.00	No
GATA2	100.00	No
RPS19	100.00	No
GFI1	100.00	No
FANCF	100.00	No
TPP1	99.99	No
FANCG	100.00	No
WRAP53	100.00	No
TP53	100.00	No
TINF2	100.00	No
EPOR	100.00	No
DDX41	100.00	No
THPO	100.00	No
TERC	100.00	Genomic start 169482849 to genomic end 169483098 UTR position
RTEL1	100.00	Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS

Pediatric oncopredisposition - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
A2ML1	99.97	1
ABCB11	99.86	1
ACD	100.00	1
AIP	99.99	1
ALK	99.93	1
APC	99.97	1
ASXL1	100.00	1
ATM	99.83	1
RNF2	99.99	1
BLM	99.80	1
BMPR1A	99.58	1
BRAF	99.78	1
BRCA1	98.33	1
BRCA2	99.99	1
BRIP1	99.39	1
BUB1B	100.00	1
CBL	99.95	1
CD27	99.95	1
CD70	99.99	1
CDC73	99.60	1
CDH1	99.98	1
CDK4	100.00	1
CDKN1B	100.00	1
CDKN1C	100.00	1
CDKN2A	100.00	1
CEBPA	100.00	1
CEP57	99.92	1
CREBBP	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTR9	99.98	1
DDB2	100.00	1
DICER1	99.96	1
DIS3L2	99.90	1
DKC1	99.59	1
DNAJC21	99.67	1
EFL1	99.83	1
EGLN1	99.86	1
EGLN2	99.97	1
ELP1	99.96	1
EPAS1	99.99	1
EPCAM	99.89	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC4	99.92	1
ERCC5	99.99	1
ERCC6L2	99.94	1
ETV6	99.99	1
EZH2	99.89	1
FANCA	100.00	1
FANCB	99.24	1
FANCC	99.98	1
FANCD2	99.86	1
FANCE	99.99	1
FANCF	100.00	1
FANCG	100.00	1
FANCI	99.96	1
FANCL	99.67	1
FAS	99.99	1
FBXW7	99.90	1
FH	99.95	1
GATA1	99.97	1
GATA2	99.99	1
GPC3	99.60	1
GPC4	99.89	1
GPR161	99.92	1
HAVCR2	99.93	1
HRAS	100.00	1
IKZF1	99.92	1
ITK	99.91	1
KRAS	99.13	1
L2HGDH	99.92	1
LIG4	100.00	1
LZTR1	99.46	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAX	99.96	1
MDH2	99.54	1
MDM4	99.43	1
MEN1	99.98	1
MLH1	99.64	1
MRAS	99.97	1
MSH2	99.23	1
MSH6	99.97	1
MYSM1	94.16	1
NBN	99.93	1
NF1	99.88	1
NF2	100.00	1
NHP2	99.96	1
NOP10	99.99	1
NRAS	99.66	1
NSD1	99.98	1
PALB2	99.71	1
PARN	99.75	1
PAX5	99.82	1
PHOX2B	99.98	1
PIK3CA	99.74	1
PMS2	70.47	1
POLD1	99.96	1
POLE	99.99	1
POLH	99.85	1
POT1	99.91	1
PPP1CB	99.89	1
PRF1	100.00	1
PRKAR1A	100.00	1
PTCH1	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
RAF1	99.97	1
RB1	99.84	1
RECQL4	100.00	1
REST	99.99	1
RET	99.97	1
RIT1	99.78	1
RMRP	100.00	1
RPL11	99.81	1
RPL15	31.77	1
RPL18	100.00	1
RPL26	30.55	1
RPL27	99.83	1
RPL35	99.99	1
RPL35A	97.55	1
RPL5	28.81	1
RPS10	0.00	1
RPS15A	22.14	1
RPS17	100.00	1
RPS19	100.00	1
RPS24	91.48	1
RPS26	8.99	1
RPS27	27.45	1
RPS28	100.00	1
RPS29	99.96	1
RPS7	88.50	1
RRAS	99.98	1
RRAS2	99.94	1
RTEL1	100.00	1
RUNX1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SBDS	99.93	1
SDHA	99.98	1
SDHAF2	99.96	1
SDHB	97.32	1
SDHC	99.67	1
SDHD	82.93	1
SETBP1	100.00	1
SH2D1A	98.98	1
SHOC2	99.96	1
SLX4	100.00	1
SMARCA4	99.99	1
SMARCB1	99.99	1
SMARCE1	99.87	1
SOS1	99.68	1
SOS2	99.39	1
SRP72	99.91	1
STK11	100.00	1
SUFU	100.00	1
TERC	98.59	1
TERT	100.00	1
TINF2	100.00	1
TMEM127	99.99	1
TP53	99.98	1
TRIM28	100.00	1
TRIM37	98.19	1
TRIP13	100.00	1
TSC1	99.99	1
TSC2	99.98	1
TSR2	99.96	1
UBE2T	99.89	1
USB1	89.62	1
VHL	100.00	1
WAS	99.90	1
WRAP53	100.00	1
WT1	99.99	1
XPA	99.68	1
XPC	99.98	1
SRP54	99.90	1

Primary immune deficiencies (444 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
ACP5	95.00	0	NM_001111035.2/ interpretable range CS1>95%
ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
ADA	95.00	0	NM_000022.3/ interpretable range CS1>95%
ADA2	95.00	1	NM_001282225.1/ interpretable range CS1>95%
ADAM17	95.00	0	NM_003183.6/ interpretable range CS1>95%
ADAR	95.00	0	NM_001111.5/ interpretable range CS1>95%
AICDA	95.00	0	NM_020661.3/ interpretable range CS1>95%
AIRE	95.00	0	NM_000383.3/ interpretable range CS1>95%
AK2	95.00	0	NM_001625.3/ interpretable range CS1>95%
ALPI	95.00	0	NM_001631.4/ interpretable range CS1>95%
AP1S3	95.00	0	NM_001039569.1/ interpretable range CS1>95%
AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
APOL1	95.00	0	NM_003661.3/ interpretable range CS1>95%
ARPC1B	95.00	0	NM_005720.4/ interpretable range CS1>95%
ATAD3A	95.00	0	NM_001170535.2/ interpretable range CS1>95%
ATG4A	95.00	0	NM_052936.4/ interpretable range CS1>95%
ATM	95.00	0	NM_000051.3/ interpretable range CS1>95%
ATP6AP1	95.00	0	NM_001183.5/ interpretable range CS1>95%
ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
B2M	95.00	0	NM_004048.2/ interpretable range CS1>95%
BACH2	95.00	0	NM_021813.3/ interpretable range CS1>95%
BCL10	95.00	0	NM_003921.5/ interpretable range CS1>95%
BCL11B	95.00	0	NM_138576.3/ interpretable range CS1>95%
BLM	95.00	0	NM_000057.3/ interpretable range CS1>95%
BLNK	95.00	0	NM_013314.3/ interpretable range CS1>95%
BPIFA1	95.00	0	NM_016583.3/ interpretable range CS1>95%
BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
C1QA	95.00	0	NM_015991.3/ interpretable range CS1>95%
C1QB	95.00	0	NM_000491.4/ interpretable range CS1>95%
C1QC	95.00	0	NM_172369.4/ interpretable range CS1>95%
C1R	95.00	0	NM_001733.6/ interpretable range CS1>95%
C1S	95.00	0	NM_201442.3/ interpretable range CS1>95%
C2	95.00	0	NM_000063.5/ interpretable range CS1>95%
C2orf69	95.00	0	NM_153689.5/ interpretable range CS1>95%
C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
C5	95.00	0	NM_001735.2/ interpretable range CS1>95%
C6	95.00	0	NM_000065.3/ interpretable range CS1>95%
C7	95.00	0	NM_000587.3/ interpretable range CS1>95%
C8A	95.00	0	NM_000562.2/ interpretable range CS1>95%
C8B	95.00	0	NM_000066.3/ interpretable range CS1>95%
C9	95.00	0	NM_001737.4/ interpretable range CS1>95%
CARD11	95.00	0	NM_032415.5/ interpretable range CS1>95%
CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
CARD9	95.00	0	NM_052813.4/ interpretable range CS1>95%
CARMIL2	95.00	0	NM_001013838.2/ interpretable range CS1>95%
CASP10	95.00	0	NM_032977.3/ interpretable range CS1>95%
CASP8	95.00	0	NM_001228.4/ interpretable range CS1>95%
CCBE1	95.00	0	NM_133459.4/ interpretable range CS1>95%
CD19	95.00	0	NM_001770.5/ interpretable range CS1>95%
CD247	95.00	0	NM_198053.2/ interpretable range CS1>95%
CD27	95.00	0	NM_001242.4/ interpretable range CS1>95%
CD28	95.00	0	NM_006139.3/ interpretable range CS1>95%
CD3D	95.00	0	NM_000732.4/ interpretable range CS1>95%
CD3E	95.00	0	NM_000733.3/ interpretable range CS1>95%
CD3G	95.00	0	NM_000073.2/ interpretable range CS1>95%
CD4	95.00	0	NM_000616.4/ interpretable range CS1>95%
CD40	95.00	0	NM_001250.5/ interpretable range CS1>95%
CD40LG	95.00	0	NM_000074.2/ interpretable range CS1>95%
CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
CD48	95.00	0	NM_001778.3/ interpretable range CS1>95%
CD55	95.00	0	NM_000574.4/ interpretable range CS1>95%
CD59	95.00	0	NM_203330.2/ interpretable range CS1>95%
CD70	95.00	0	NM_001252.4/ interpretable range CS1>95%
CD79A	95.00	0	NM_001783.3/ interpretable range CS1>95%
CD79B	95.00	0	NM_000626.3/ interpretable range CS1>95%
CD81	95.00	0	NM_004356.3/ interpretable range CS1>95%
CD8A	95.00	0	NM_001768.6/ interpretable range CS1>95%
CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
CDCA7	95.00	0	NM_031942.4/ interpretable range CS1>95%
CDH17	95.00	0	NM_004063.3/ interpretable range CS1>95%
CEBPE	95.00	0	NM_001805.3/ interpretable range CS1>95%
CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
CFD	95.00	0	NM_001928.3/ interpretable range CS1>95%
CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
CFHR2	95.00	0	NM_005666.3/ interpretable range CS1>95%
CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
CFHR4	95.00	0	NM_001201550.2/ interpretable range CS1>95%
CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
CFP	95.00	0	NM_002621.2/ interpretable range CS1>95%
CFTR	95.00	0	NM_000492.3/ interpretable range CS1>95%
CHD7	95.00	0	NM_017780.3/ interpretable range CS1>95%
CHUK	95.00	0	NM_001278.4/ interpretable range CS1>95%
CIB1	95.00	0	NM_006384.3/ interpretable range CS1>95%
CIITA	95.00	0	NM_000246.3/ interpretable range CS1>95%
CLCN7	95.00	0	NM_001287.5/ interpretable range CS1>95%
CLPB	95.00	0	NM_030813.5/ interpretable range CS1>95%
COPA	95.00	0	NM_004371.3/ interpretable range CS1>95%
COPG1	95.00	0	NM_016128.3/ interpretable range CS1>95%
CORO1A	95.00	0	NM_007074.3/ interpretable range CS1>95%
CR2	95.00	0	NM_001006658.2/ interpretable range CS1>95%
CRACR2A	95.00	0	NM_001144958.1/ interpretable range CS1>95%
CSF2RB	95.00	0	NM_000395.2/ interpretable range CS1>95%
CSF3R	95.00	0	NM_000760.3/ interpretable range CS1>95%
CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
CTLA4	95.00	0	NM_005214.4/ interpretable range CS1>95%
CTNNBL1	95.00	0	NM_030877.4/ interpretable range CS1>95%
CTPS1	95.00	0	NM_001905.3/ interpretable range CS1>95%
CTSC	95.00	0	NM_001814.5/ interpretable range CS1>95%
CXCR2	95.00	0	NM_001557.3/ interpretable range CS1>95%
CXCR4	95.00	0	NM_003467.2/ interpretable range CS1>95%
CYBA	95.00	0	NM_000101.3/ interpretable range CS1>95%
CYBB	95.00	1	NM_000397.3/ interpretable range CS1>95%
CYBC1	95.00	0	NM_001033046.3/ interpretable range CS1>95%
DBR1	95.00	0	NM_016216.3/ interpretable range CS1>95%
DCLRE1B	95.00	0	NM_022836.3/ interpretable range CS1>95%
DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
DEF6	95.00	0	NM_022047.3/ interpretable range CS1>95%
DGAT1	95.00	0	NM_012079.5/ interpretable range CS1>95%
DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
DNAJC21	95.00	0	NM_001012339.3/ interpretable range CS1>95%
DNASE1	95.00	0	NM_005223.3/ interpretable range CS1>95%
DNASE1L3	95.00	0	NM_004944.3/ interpretable range CS1>95%
DNASE2	95.00	0	NM_001375.2/ interpretable range CS1>95%
DNMT3B	95.00	0	NM_006892.3/ interpretable range CS1>95%
DOCK2	95.00	0	NM_004946.2/ interpretable range CS1>95%
DOCK8	95.00	0	NM_203447.3/ interpretable range CS1>95%
DSG1	95.00	0	NM_001942.3/ interpretable range CS1>95%
DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
EFL1	95.00	0	NM_024580.5/ interpretable range CS1>95%
ELANE	95.00	0	NM_001972.3/ interpretable range CS1>95%
ELF4	95.00	0	NM_001421.3/ interpretable range CS1>95%
EPG5	95.00	0	NM_020964.2/ interpretable range CS1>95%
ERBIN	95.00	0	NM_001253697.1/ interpretable range CS1>95%
EXTL3	95.00	0	NM_001440.3/ interpretable range CS1>95%
FADD	95.00	0	NM_003824.3/ interpretable range CS1>95%
FAS	95.00	0	NM_000043.5/ interpretable range CS1>95%
FASLG	95.00	0	NM_000639.2/ interpretable range CS1>95%
FAT4	95.00	0	NM_024582.4/ interpretable range CS1>95%
FCGR3A	95.00	0	NM_000569.7/ interpretable range CS1>95%
FCHO1	95.00	0	NM_015122.2/ interpretable range CS1>95%
FCN3	95.00	0	NM_003665.3/ interpretable range CS1>95%
FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
FNIP1	95.00	0	NM_133372.2/ interpretable range CS1>95%
FOXN1	95.00	0	NM_003593.2/ interpretable range CS1>95%
FOXP3	95.00	0	NM_014009.3/ interpretable range CS1>95%
G6PC3	95.00	0	NM_138387.3/ interpretable range CS1>95%
G6PD	95.00	0	NM_001042351.2/ interpretable range CS1>95%
GATA2	95.00	1	NM_032638.4/ interpretable range CS1>95%
GFI1	95.00	0	NM_005263.4/ interpretable range CS1>95%
GIMAP5	95.00	0	NM_018384.4/ interpretable range CS1>95%
GIMAP6	95.00	0	NM_001244072.1/ interpretable range CS1>95%
GINS1	95.00	0	NM_021067.4/ interpretable range CS1>95%
GUCY2C	95.00	0	NM_004963.3/ interpretable range CS1>95%
HAVCR2	95.00	0	NM_032782.4/ interpretable range CS1>95%
HAX1	95.00	0	NM_006118.3/ interpretable range CS1>95%
HCK	95.00	0	NM_002110.3/ interpretable range CS1>95%
HELLS	95.00	0	NM_018063.4/ interpretable range CS1>95%
HTRA2	95.00	0	NM_013247.4/ interpretable range CS1>95%
HYOU1	95.00	0	NM_006389.4/ interpretable range CS1>95%
ICOS	95.00	0	NM_012092.3/ interpretable range CS1>95%
IFIH1	95.00	0	NM_022168.3/ interpretable range CS1>95%
IFNAR1	95.00	0	NM_000629.2/ interpretable range CS1>95%
IFNAR2	95.00	0	NM_207585.2/ interpretable range CS1>95%
IFNG	95.00	0	NM_000619.2/ interpretable range CS1>95%
IFNGR1	95.00	0	NM_000416.2/ interpretable range CS1>95%
IFNGR2	95.00	0	NM_005534.3/ interpretable range CS1>95%
IGLL1	95.00	0	NM_020070.3/ interpretable range CS1>95%
IKBKB	95.00	0	NM_001556.2/ interpretable range CS1>95%
IKBKG	95.00	0	NM_001099857.2/ interpretable range CS1>95%
IKZF1	95.00	0	NM_006060.6/ interpretable range CS1>95%
IKZF2	95.00	0	NM_001079526.1/ interpretable range CS1>95%
IKZF3	95.00	0	NM_012481.4/ interpretable range CS1>95%
IL10	95.00	0	NM_000572.2/ interpretable range CS1>95%
IL10RA	95.00	0	NM_001558.3/ interpretable range CS1>95%
IL10RB	95.00	0	NM_000628.4/ interpretable range CS1>95%
IL12B	95.00	0	NM_002187.2/ interpretable range CS1>95%
IL12RB1	95.00	0	NM_005535.2/ interpretable range CS1>95%
IL12RB2	95.00	0	NM_001559.2/ interpretable range CS1>95%
IL17F	95.00	0	NM_052872.3/ interpretable range CS1>95%
IL17RA	95.00	0	NM_014339.6/ interpretable range CS1>95%
IL17RC	95.00	0	NM_153461.3/ interpretable range CS1>95%
IL18BP	95.00	0	NM_173042.2/ interpretable range CS1>95%
IL1RN	95.00	0	NM_173841.2/ interpretable range CS1>95%
IL21	95.00	0	NM_021803.3/ interpretable range CS1>95%
IL21R	95.00	0	NM_021798.3/ interpretable range CS1>95%
IL23R	95.00	0	NM_144701.2/ interpretable range CS1>95%
IL2RA	95.00	0	NM_000417.2/ interpretable range CS1>95%
IL2RB	95.00	0	NM_000878.4/ interpretable range CS1>95%
IL2RG	95.00	0	NM_000206.2/ interpretable range CS1>95%
IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
IL37	95.00	0	NM_014439.3/ interpretable range CS1>95%
IL6R	95.00	0	NM_000565.3/ interpretable range CS1>95%
IL6ST	95.00	0	NM_002184.3/ interpretable range CS1>95%
IL7	95.00	0	NM_000880.3/ interpretable range CS1>95%
IL7R	95.00	0	NM_002185.4/ interpretable range CS1>95%
INO80	95.00	0	NM_017553.2/ interpretable range CS1>95%
IRAK1	95.00	0	NM_001569.3/ interpretable range CS1>95%
IRAK4	95.00	0	NM_016123.3/ interpretable range CS1>95%
IRF2BP2	95.00	0	NM_182972.2/ interpretable range CS1>95%
IRF3	95.00	0	NM_001571.5/ interpretable range CS1>95%
IRF4	95.00	0	NM_002460.3/ interpretable range CS1>95%
IRF7	95.00	0	NM_004031.2/ interpretable range CS1>95%
IRF8	95.00	0	NM_002163.2/ interpretable range CS1>95%
IRF9	95.00	0	NM_006084.4/ interpretable range CS1>95%
ISG15	95.00	0	NM_005101.3/ interpretable range CS1>95%
ITCH	95.00	0	NM_031483.6/ interpretable range CS1>95%
ITGB2	95.00	0	NM_000211.4/ interpretable range CS1>95%
ITK	95.00	0	NM_005546.3/ interpretable range CS1>95%
ITPKB	95.00	0	NM_002221.3/ interpretable range CS1>95%
ITPKC	95.00	0	NM_025194.2/ interpretable range CS1>95%
ITPR3	95.00	0	NM_002224.3/ interpretable range CS1>95%
JAGN1	95.00	0	NM_032492.3/ interpretable range CS1>95%
JAK1	95.00	0	NM_002227.3/ interpretable range CS1>95%
JAK3	95.00	0	NM_000215.3/ interpretable range CS1>95%
KARS1	95.00	0	NM_001130089.1/ interpretable range CS1>95%
KMT2A	95.00	0	NM_001197104.1/ interpretable range CS1>95%
KMT2D	95.00	0	NM_003482.3/ interpretable range CS1>95%
KPNA2	95.00	0	NM_001320611.1/ interpretable range CS1>95%
KRAS	95.00	0	NM_004985.4/ interpretable range CS1>95%
LACC1	95.00	0	NM_001128303.2/ interpretable range CS1>95%
LAMTOR2	95.00	0	NM_014017.3/ interpretable range CS1>95%
LAT	95.00	0	NM_001014987.1/ interpretable range CS1>95%
LCK	95.00	0	NM_001042771.2/ interpretable range CS1>95%
LCP2	95.00	0	NM_005565.4/ interpretable range CS1>95%
LIG1	95.00	0	NM_000234.2/ interpretable range CS1>95%
LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
LPIN2	95.00	0	NM_014646.2/ interpretable range CS1>95%
LRBA	95.00	0	NM_006726.4/ interpretable range CS1>95%
LRRC32	95.00	0	NM_005512.2/ interpretable range CS1>95%
LRRC8A	95.00	0	NM_019594.3/ interpretable range CS1>95%
LSM11	95.00	0	NM_173491.3/ interpretable range CS1>95%
LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
MALT1	95.00	0	NM_006785.3/ interpretable range CS1>95%
MAN2B2	95.00	0	NM_015274.2/ interpretable range CS1>95%
MAP1LC3B2	95.00	0	NM_001085481.2/ interpretable range CS1>95%
MAP3K14	95.00	0	NM_003954.4/ interpretable range CS1>95%
MAPK8	95.00	0	NM_139049.3/ interpretable range CS1>95%
MASP2	95.00	0	NM_006610.3/ interpretable range CS1>95%
MBL2	95.00	0	NM_000242.2/ interpretable range CS1>95%
MCM10	95.00	0	NM_182751.2/ interpretable range CS1>95%
MCM4	95.00	0	NM_005914.3/ interpretable range CS1>95%
MEFV	95.00	0	NM_000243.2/ interpretable range CS1>95%
MOGS	95.00	0	NM_020831.4/ interpretable range CS1>95%
MPO	95.00	0	NM_006302.2/ interpretable range CS1>95%
MRTFA	95.00	0	NM_000250.1/ interpretable range CS1>95%
MS4A1	95.00	0	NM_152866.2/ interpretable range CS1>95%
MSN	95.00	0	NM_002444.2/ interpretable range CS1>95%
MTHFD1	95.00	0	NM_005956.3/ interpretable range CS1>95%
MVK	95.00	0	NM_000431.3/ interpretable range CS1>95%
MYD88	95.00	0	NM_002468.4/ interpretable range CS1>95%
MYO5B	95.00	0	NM_001080467.2/ interpretable range CS1>95%
MYSM1	95.00	0	NM_001085487.2/ interpretable range CS1>95%
NBAS	95.00	0	NM_015909.3/ interpretable range CS1>95%
NCF1	95.00	0	NM_000265.5/ interpretable range CS1>95%
NCF2	95.00	0	NM_000433.3/ interpretable range CS1>95%
NCF4	95.00	0	NM_013416.3/ interpretable range CS1>95%
NCKAP1	95.00	0	NM_205842.2/ interpretable range CS1>95%
NCKAP1L	95.00	0	NM_005337.4/ interpretable range CS1>95%
NCSTN	95.00	0	NM_015331.2/ interpretable range CS1>95%
NFAT5	95.00	0	NM_138714.3/ interpretable range CS1>95%
NFE2L2	95.00	0	NM_006164.4/ interpretable range CS1>95%
NFKB1	95.00	0	NM_003998.3/ interpretable range CS1>95%
NFKB2	95.00	0	NM_001077494.3/ interpretable range CS1>95%
NFKBIA	95.00	0	NM_020529.2/ interpretable range CS1>95%
NHEJ1	95.00	0	NM_024782.2/ interpretable range CS1>95%
NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
NLRC4	95.00	0	NM_021209.4/ interpretable range CS1>95%
NLRP1	95.00	0	NM_033004.3/ interpretable range CS1>95%
NLRP12	95.00	0	NM_144687.3/ interpretable range CS1>95%
NLRP3	95.00	0	NM_004895.4/ interpretable range CS1>95%
NOD2	95.00	0	NM_022162.2/ interpretable range CS1>95%
NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
NOS2	95.00	0	NM_000625.4/ interpretable range CS1>95%
NRAS	95.00	0	NM_002524.4/ interpretable range CS1>95%
NSMCE3	95.00	0	NM_138704.3/ interpretable range CS1>95%
OAS1	95.00	0	NM_032790.3/ interpretable range CS1>95%
ORAI1	95.00	0	NM_014028.3/ interpretable range CS1>95%
OSTM1	95.00	0	NM_138348.5/ interpretable range CS1>95%
OTULIN	95.00	0	NM_002582.3/ interpretable range CS1>95%
PARN	95.00	0	NM_006192.4/ interpretable range CS1>95%
PAX1	95.00	0	NM_005018.2/ interpretable range CS1>95%
PDCD1	95.00	0	NM_000285.3/ interpretable range CS1>95%
PEPD	95.00	0	NM_001199917.1/ interpretable range CS1>95%
PGM3	95.00	0	NM_058004.3/ interpretable range CS1>95%
PI4KA	95.00	0	NM_005026.4/ interpretable range CS1>95%
PIK3CD	95.00	0	NM_002649.3/ interpretable range CS1>95%
PIK3CG	95.00	0	NM_181523.2/ interpretable range CS1>95%
PIK3R1	95.00	0	NM_002661.4/ interpretable range CS1>95%
PLCG2	95.00	0	NM_014798.2/ interpretable range CS1>95%
PLEKHM1	95.00	0	NM_000535.6/ interpretable range CS1>95%
PMS2	95.00	0	NM_016937.3/ interpretable range CS1>95%
PNP	95.00	0	NM_002691.3/ interpretable range CS1>95%
POLA1	95.00	0	NM_006230.3/ interpretable range CS1>95%
POLD1	95.00	0	NM_006231.3/ interpretable range CS1>95%
POLD2	95.00	0	NM_002692.3/ interpretable range CS1>95%
POLE	95.00	0	NM_007055.3/ interpretable range CS1>95%
POLE2	95.00	0	NM_001303456.1/ interpretable range CS1>95%
POLR3A	95.00	0	NM_001282526.1/ interpretable range CS1>95%
POLR3C	95.00	0	NM_015932.5/ interpretable range CS1>95%
POLR3E	95.00	0	NM_006235.2/ interpretable range CS1>95%
POLR3F	95.00	0	NM_001083116.2/ interpretable range CS1>95%
POMP	95.00	0	NM_015932.6/ interpretable range CS1>95%
POU2AF1	95.00	0	NM_006254.3/ interpretable range CS1>95%
PRF1	95.00	0	NM_006904.6/ interpretable range CS1>95%
PRKCD	95.00	0	NM_172341.3/ interpretable range CS1>95%
PRKDC	95.00	0	NM_002788.3/ interpretable range CS1>95%
PSENEN	95.00	0	NM_002801.3/ interpretable range CS1>95%
PSMA3	95.00	0	NM_002796.2/ interpretable range CS1>95%
PSMB10	95.00	0	NM_148919.3/ interpretable range CS1>95%
PSMB4	95.00	0	NM_002800.4/ interpretable range CS1>95%
PSMB8	95.00	0	NM_147163.1/ interpretable range CS1>95%
PSMB9	95.00	0	NM_003978.4/ interpretable range CS1>95%
PSMG2	95.00	0	NM_000314.6/ interpretable range CS1>95%
PSTPIP1	95.00	0	NM_002828.3/ interpretable range CS1>95%
PTEN	95.00	0	NM_002838.4/ interpretable range CS1>95%
PTPN2	95.00	0	NM_004580.4/ interpretable range CS1>95%
PTPRC	95.00	0	NM_002872.4/ interpretable range CS1>95%
RAB27A	95.00	0	NM_000448.2/ interpretable range CS1>95%
RAC2	95.00	0	NM_000536.3/ interpretable range CS1>95%
RAG1	95.00	0	NM_006267.4/ interpretable range CS1>95%
RAG2	95.00	0	NM_005739.3/ interpretable range CS1>95%
RANBP2	95.00	0	NM_031229.3/ interpretable range CS1>95%
RASGRP1	95.00	0	NM_172071.3/ interpretable range CS1>95%
RBCK1	95.00	0	NM_004260.3/ interpretable range CS1>95%
RC3H1	95.00	0	NM_002908.3/ interpretable range CS1>95%
RECQL4	95.00	0	NM_021975.3/ interpretable range CS1>95%
REL	95.00	0	NM_006509.3/ interpretable range CS1>95%
RELA	95.00	0	NM_000449.3/ interpretable range CS1>95%
RELB	95.00	0	NM_003721.3/ interpretable range CS1>95%
RFX5	95.00	0	NM_000538.3/ interpretable range CS1>95%
RFXANK	95.00	0	NM_001665.3/ interpretable range CS1>95%
RFXAP	95.00	0	NM_004310.4/ interpretable range CS1>95%
RHOG	95.00	0	NM_003804.5/ interpretable range CS1>95%
RHOH	95.00	0	NM_006397.2/ interpretable range CS1>95%
RIGI	95.00	0	NM_014314.4/ interpretable range CS1>95%
RIPK1	95.00	0	NM_024570.3/ interpretable range CS1>95%
RNASEH2A	95.00	0	NM_032193.3/ interpretable range CS1>95%
RNASEH2B	95.00	0	NM_152617.3/ interpretable range CS1>95%
RNASEH2C	95.00	0	NM_017999.4/ interpretable range CS1>95%
RNF168	95.00	0	NM_005060.3/ interpretable range CS1>95%
RNF31	95.00	0	NM_002945.4/ interpretable range CS1>95%
RORC	95.00	0	NM_002295.5/ interpretable range CS1>95%
RPA1	95.00	0	NM_002945.5/ interpretable range CS1>95%
RPSA	95.00	0	NM_032957.4/ interpretable range CS1>95%
RTEL1	95.00	0	NM_017654.3/ interpretable range CS1>95%
SAMD9	95.00	0	NM_152703.4/ interpretable range CS1>95%
SAMD9L	95.00	0	NM_015474.3/ interpretable range CS1>95%
SAMHD1	95.00	0	NM_018990.3/ interpretable range CS1>95%
SASH3	95.00	0	NM_016038.3/ interpretable range CS1>95%
SBDS	95.00	0	NM_013336.3/ interpretable range CS1>95%
SEC61A1	95.00	0	NM_006378.3/ interpretable range CS1>95%
SEMA4D	95.00	0	NM_000062.2/ interpretable range CS1>95%
SERPING1	95.00	1	NM_002351.4/ interpretable range CS1>95%
SH2D1A	95.00	0	NM_031892.2/ interpretable range CS1>95%
SH3KBP1	95.00	0	NM_006929.4/ interpretable range CS1>95%
SKIC2	95.00	0	NM_006929.5/ interpretable range CS1>95%
SKIC3	95.00	0	NM_014639.4/ interpretable range CS1>95%
SLC11A1	95.00	0	NM_018344.5/ interpretable range CS1>95%
SLC29A3	95.00	0	NM_018389.4/ interpretable range CS1>95%
SLC35C1	95.00	0	NM_001164277.1/ interpretable range CS1>95%
SLC37A4	95.00	0	NM_006979.2/ interpretable range CS1>95%
SLC39A7	95.00	0	NM_080669.5/ interpretable range CS1>95%
SLC46A1	95.00	0	NM_001126106.2/ interpretable range CS1>95%
SLC7A7	95.00	0	NM_014140.3/ interpretable range CS1>95%
SMARCAL1	95.00	0	NM_001098426.1/ interpretable range CS1>95%
SMARCD2	95.00	0	NR_002967.1/ interpretable range CS1>95%
SNORA31	95.00	0	NM_001199835.1/ interpretable range CS1>95%
SNX10	95.00	0	NM_003745.1/ interpretable range CS1>95%
SOCS1	95.00	0	NM_004509.3/ interpretable range CS1>95%
SP110	95.00	0	NM_004509.5/ interpretable range CS1>95%
SPI1	95.00	0	NM_001080547.1/ interpretable range CS1>95%
SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
SPPL2A	95.00	0	NM_032802.3/ interpretable range CS1>95%
SRP54	95.00	0	NM_003136.3/ interpretable range CS1>95%
STAT1	95.00	0	NM_007315.3/ interpretable range CS1>95%
STAT2	95.00	0	NM_005419.3/ interpretable range CS1>95%
STAT3	95.00	0	NM_139276.2/ interpretable range CS1>95%
STAT4	95.00	0	NM_003151.3/ interpretable range CS1>95%
STAT5B	95.00	0	NM_012448.3/ interpretable range CS1>95%
STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
STING1	95.00	0	NM_006282.4/ interpretable range CS1>95%
STK4	95.00	0	NM_024928.4/ interpretable range CS1>95%
STN1	95.00	0	NM_003764.3/ interpretable range CS1>95%
STX11	95.00	0	NM_006949.3/ interpretable range CS1>95%
STXBP2	95.00	0	NM_007269.3/ interpretable range CS1>95%
STXBP3	95.00	0	NM_003177.6/ interpretable range CS1>95%
SYK	95.00	0	NM_000593.5/ interpretable range CS1>95%
TAFAZZIN	95.00	0	NM_000116.5/ interpretable range CS1>95%
TAP1	95.00	0	NM_001290043.1/ interpretable range CS1>95%
TAP2	95.00	0	NM_003190.4/ interpretable range CS1>95%
TAPBP	95.00	0	NM_000116.4/ interpretable range CS1>95%
TBK1	95.00	0	NM_013254.3/ interpretable range CS1>95%
TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
TBX21	95.00	0	NM_013351.1/ interpretable range CS1>95%
TCF3	95.00	0	NM_003200.4/ interpretable range CS1>95%
TCIRG1	95.00	0	NM_006019.3/ interpretable range CS1>95%
TCN2	95.00	0	NM_000355.3/ interpretable range CS1>95%
TERT	95.00	0	NM_198253.2/ interpretable range CS1>95%
TET2	95.00	0	NM_001127208.2/ interpretable range CS1>95%
TFRC	95.00	0	NM_003234.3/ interpretable range CS1>95%
TGFB1	95.00	0	NM_000660.6/ interpretable range CS1>95%
TGFBR1	95.00	0	NM_004612.3/ interpretable range CS1>95%
TGFBR2	95.00	0	NM_003242.5/ interpretable range CS1>95%
THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
TICAM1	95.00	0	NM_182919.3/ interpretable range CS1>95%
TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
TLR3	95.00	0	NM_003265.2/ interpretable range CS1>95%
TLR7	95.00	0	NM_016562.3/ interpretable range CS1>95%
TLR8	95.00	0	NM_138636.5/ interpretable range CS1>95%
TMC6	95.00	0	NM_007267.7/ interpretable range CS1>95%
TMC8	95.00	0	NM_152468.4/ interpretable range CS1>95%
TNFAIP3	95.00	0	NM_198282.3/ interpretable range CS1>95%
TNFRSF11A	95.00	0	NM_006290.3/ interpretable range CS1>95%
TNFRSF13B	95.00	0	NM_003839.3/ interpretable range CS1>95%
TNFRSF13C	95.00	0	NM_012452.2/ interpretable range CS1>95%
TNFRSF1A	95.00	0	NM_052945.3/ interpretable range CS1>95%
TNFRSF4	95.00	0	NM_001065.3/ interpretable range CS1>95%
TNFRSF9	95.00	0	NM_003327.3/ interpretable range CS1>95%
TNFSF11	95.00	0	NM_001561.5/ interpretable range CS1>95%
TNFSF12	95.00	0	NM_003701.3/ interpretable range CS1>95%
TNFSF13	95.00	0	NM_003809.2/ interpretable range CS1>95%
TOP2B	95.00	0	NM_003808.3/ interpretable range CS1>95%
TPP2	95.00	0	NM_001068.3/ interpretable range CS1>95%
TRAF3	95.00	0	NM_003291.3/ interpretable range CS1>95%
TRAF3IP2	95.00	0	NM_003300.3/ interpretable range CS1>95%
TREX1	95.00	0	NM_147686.3/ interpretable range CS1>95%
TRIM22	95.00	0	NM_033629.5/ interpretable range CS1>95%
TRNT1	95.00	0	NM_006074.4/ interpretable range CS1>95%
TTC7A	95.00	0	NM_014639.3/ interpretable range CS1>95%
TYK2	95.00	0	NM_020458.3/ interpretable range CS1>95%
UBA1	95.00	0	NM_003331.4/ interpretable range CS1>95%
UNC13D	95.00	0	NM_003334.3/ interpretable range CS1>95%
UNC93B1	95.00	0	NM_199242.2/ interpretable range CS1>95%
UNG	95.00	0	NM_030930.3/ interpretable range CS1>95%
USB1	95.00	0	NM_080911.2/ interpretable range CS1>95%
USP18	95.00	0	NM_024598.3/ interpretable range CS1>95%
VPS13B	95.00	0	NM_017414.3/ interpretable range CS1>95%
VPS45	95.00	0	NM_017890.4/ interpretable range CS1>95%
WAS	95.00	0	NM_007259.5/ interpretable range CS1>95%
WDR1	95.00	0	NM_000377.2/ interpretable range CS1>95%
WIPF1	95.00	0	NM_017491.4/ interpretable range CS1>95%
WRAP53	95.00	0	NM_001077269.1/ interpretable range CS1>95%
XIAP	95.00	1	NM_001167.3/ interpretable range CS1>95%
ZAP70	95.00	0	NM_001079.3/ interpretable range CS1>95%
ZBTB24	95.00	0	NM_014797.2/ interpretable range CS1>95%
ZNF341	95.00	0	NM_032819.4/ interpretable range CS1>95%
ZNFX1	95.00	0	NM_021035.2/ interpretable range CS1>95%

Primary immune deficiencies - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACD	100.00	1
ACP5	100.00	1
ACTB	100.00	1
ADA	99.97	1
ADA2	100.00	1
ADAM17	99.94	1
ADAR	99.84	1
AICDA	99.94	1
AIRE	99.95	1
AK2	99.39	1
ALPI	100.00	1
AP1S3	100.00	1
AP3B1	99.89	1
AP3D1	100.00	1
APOL1	99.99	1
ARHGEF1	99.97	1
ARPC1B	99.92	1
ATG16L1	99.95	1
ATG4A	99.86	1
ATM	99.83	1
ATP2A2	99.98	1
ATP6AP1	100.00	1
B2M	100.00	1
BACH2	99.99	1
BCL10	99.74	1
BCL11B	100.00	1
BLK	99.98	1
BLM	99.80	1
BLNK	99.90	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BTK	99.88	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C1R	99.99	1
C1S	99.98	1
C2	99.99	1
C2orf69	99.97	1
C3	100.00	1
C4A	21.28	1
C4BPA	99.95	1
C5	99.92	1
C6	99.97	1
C7	99.94	1
C8A	99.95	1
C8B	99.37	1
C8G	99.99	1
C9	99.89	1
CARD11	99.97	1
CARD14	99.99	1
CARD9	100.00	1
CARMIL2	99.99	1
CASP10	99.85	1
CASP8	99.92	1
CBL	99.95	1
CCBE1	99.52	1
CCDC28B	99.99	1
CD19	99.98	1
CD247	99.79	1
CD27	99.95	1
CD3D	100.00	1
CD3E	100.00	1
CD3G	100.00	1
CD4	100.00	1
CD40	100.00	1
CD40LG	99.88	1
CD46	99.86	1
CD55	74.12	1
CD59	100.00	1
CD70	99.99	1
CD79A	99.97	1
CD79B	99.93	1
CD81	99.97	1
CD8A	99.97	1
CDC42	98.05	1
CDCA7	99.88	1
CEBPE	100.00	1
CFB	99.97	1
CFD	99.99	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CFP	99.96	1
CFTR	99.45	1
CHD7	99.99	1
CIB1	99.92	1
CIITA	99.99	1
CLCN7	99.99	1
CLEC7A	99.98	1
CLPB	99.97	1
COL7A1	99.99	1
COPA	99.61	1
CORO1A	91.71	1
CPT2	99.65	1
CR2	99.97	1
CREBBP	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CSF3R	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
CTPS1	98.63	1
CTSC	99.97	1
CXCR4	99.98	1
CYBA	99.96	1
CYBB	99.87	1
CYBC1	100.00	1
DBR1	99.92	1
DCLRE1B	99.91	1
DCLRE1C	99.79	1
RIGI	99.84	1
DEF6	100.00	1
DGKE	99.10	1
DHFR	98.89	1
DKC1	99.59	1
DNAJC21	99.67	1
DNASE1	100.00	1
DNASE1L3	99.90	1
DNASE2	100.00	1
DNMT3B	99.98	1
DOCK2	100.00	1
DOCK8	99.86	1
DOK3	99.95	1
DTNBP1	99.89	1
EFL1	99.83	1
ELANE	100.00	1
ELF4	99.97	1
EPG5	99.95	1
ERBIN	99.69	1
ERCC6L2	99.94	1
EXTL3	99.99	1
F12	99.99	1
FAAP24	99.95	1
FADD	99.97	1
FAS	99.99	1
FASLG	99.84	1
FAT4	99.98	1
FCGR2B	70.97	1
FCGR3A	99.93	1
FCGR3B	95.51	1
FCHO1	99.99	1
FCN3	99.48	1
FERMT1	99.90	1
FERMT3	99.99	1
FNIP1	99.87	1
FOXN1	99.97	1
FOXP3	99.93	1
FPR1	100.00	1
G6PC3	99.98	1
G6PD	99.97	1
GATA1	99.97	1
GATA2	99.99	1
GFI1	99.88	1
GIMAP5	100.00	1
GINS1	99.99	1
GUCY2C	99.90	1
HAVCR2	99.93	1
HAX1	100.00	1
HELLS	99.78	1
HMOX1	99.95	1
HPS1	100.00	1
HPS4	99.98	1
HPS6	100.00	1
HTRA2	99.99	1
HYOU1	99.97	1
ICOS	99.95	1
ICOSLG	5.95	1
IFIH1	99.84	1
IFNAR1	99.75	1
IFNAR2	89.62	1
IFNG	99.50	1
IFNGR1	99.87	1
IFNGR2	99.95	1
IGHM	100.00	1
IGKC	99.99	1
IGLL1	100.00	1
IKBKB	99.93	1
IKBKG	57.34	1
IKZF1	99.92	1
IL10	100.00	1
IL10RA	99.99	1
IL10RB	99.99	1
IL12B	99.98	1
IL12RB1	94.11	1
IL12RB2	97.66	1
IL15RA	99.96	1
IL17F	99.99	1
IL17RA	100.00	1
IL17RC	100.00	1
IL18	99.85	1
IL18BP	99.99	1
IL1RL1	99.76	1
IL1RN	99.64	1
IL21	99.95	1
IL21R	99.70	1
IL23R	97.64	1
IL2RA	99.99	1
IL2RB	100.00	1
IL2RG	99.86	1
IL36RN	100.00	1
IL6R	92.46	1
IL6ST	99.88	1
IL7R	99.99	1
ILRUN	100.00	1
INO80	99.96	1
IRAK1	99.98	1
IRAK4	98.85	1
IRF2BP2	100.00	1
IRF3	99.96	1
IRF4	99.99	1
IRF7	100.00	1
IRF8	99.99	1
IRF9	100.00	1
ISG15	100.00	1
ITCH	95.57	1
ITGB2	100.00	1
ITK	99.91	1
ITPKB	99.99	1
IVNS1ABP	99.24	1
JAGN1	100.00	1
JAK1	99.32	1
JAK3	99.99	1
KDM6A	99.74	1
KMT2A	99.97	1
KMT2D	99.98	1
KRAS	99.13	1
LACC1	99.99	1
LAMTOR2	99.92	1
LAT	99.85	1
LCK	99.56	1
LCP2	99.58	1
LIG1	99.93	1
LIG4	100.00	1
LIPA	99.96	1
LPIN2	100.00	1
LRBA	99.76	1
LRRC8A	100.00	1
LSM11	100.00	1
LYST	99.87	1
MAGT1	99.54	1
MALT1	99.71	1
MAN2B1	99.99	1
MAP1LC3B2	100.00	1
MAP3K14	99.98	1
MAPK8	99.64	1
MASP1	99.99	1
MASP2	99.95	1
MBL2	99.93	1
MCM10	99.99	1
MCM4	99.96	1
MEFV	100.00	1
MOGS	100.00	1
MPEG1	100.00	1
MPO	99.97	1
MRE11	99.93	1
MRTFA	92.99	1
MS4A1	99.60	1
MSH6	99.97	1
MSN	99.98	1
MTHFD1	100.00	1
MVK	99.97	1
MYD88	99.99	1
MYO5B	100.00	1
MYSM1	94.16	1
NBAS	99.86	1
NBN	99.93	1
NCF1	57.22	1
NCF2	99.85	1
NCF4	100.00	1
NCKAP1L	99.77	1
NCSTN	99.82	1
NFAT5	99.93	1
NFE2L2	99.97	1
NFKB1	99.80	1
NFKB2	99.98	1
NFKBIA	99.99	1
NHEJ1	99.91	1
NHP2	99.96	1
NKX2-5	99.75	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NLRP7	99.99	1
NOD2	99.98	1
NOP10	99.99	1
NOS2	96.11	1
NPC1	99.99	1
NRAS	99.66	1
NSMCE3	100.00	1
OAS1	99.96	1
ORAI1	99.63	1
OSTM1	99.56	1
OTULIN	99.95	1
PARN	99.75	1
PAX1	100.00	1
PCCA	99.90	1
PCCB	99.97	1
PEPD	99.98	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
PLCG2	99.99	1
PLEKHM1	99.77	1
PLG	99.89	1
PMS2	70.47	1
PNP	100.00	1
POLA1	99.57	1
POLD1	99.96	1
POLD2	99.95	1
POLE	99.99	1
POLE2	99.87	1
POLR3A	99.97	1
POLR3C	99.89	1
POLR3F	99.97	1
NT5C3A	99.95	1
PRF1	100.00	1
PRIM1	99.07	1
PRKCD	99.96	1
PRKDC	99.93	1
PSEN1	100.00	1
PSENEN	100.00	1
PSMA3	99.96	1
PSMB10	99.98	1
PSMB4	99.83	1
PSMB8	99.96	1
PSMB9	99.68	1
PSMG2	99.98	1
PSTPIP1	99.91	1
PSTPIP2	99.98	1
PTEN	99.89	1
PTPN11	99.98	1
PTPN2	99.98	1
PTPN6	100.00	1
PTPRC	93.90	1
RAB27A	99.94	1
RAC2	99.99	1
RAG1	100.00	1
RAG2	100.00	1
RANBP2	99.37	1
RASGRP1	100.00	1
RBCK1	100.00	1
RC3H1	99.22	1
RECQL4	100.00	1
REL	96.99	1
RELA	99.99	1
RELB	99.97	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RHOH	99.99	1
RIPK1	99.93	1
RMRP	100.00	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF31	100.00	1
RORC	99.42	1
RPSA	0.00	1
RTEL1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SASH3	99.99	1
SBDS	99.93	1
SDHA	99.98	1
SEC61A1	99.99	1
SEMA3E	99.13	1
SERPING1	100.00	1
SGPL1	99.95	1
SH2D1A	98.98	1
SH3BP2	100.00	1
SH3KBP1	99.95	1
SKIC2	99.98	1
SLC11A1	99.99	1
SLC29A3	99.98	1
SLC35C1	100.00	1
SLC37A4	99.90	1
SLC39A7	100.00	1
SLC46A1	100.00	1
SLC7A7	99.99	1
SLC9A3	100.00	1
SMARCAL1	99.97	1
SMARCD2	99.99	1
SNX10	99.96	1
SOCS1	99.98	1
SOCS4	99.92	1
PMP22	99.99	1
SPI1	99.81	1
SPINK5	99.91	1
SPPL2A	99.88	1
SRP54	99.83	1
SRP72	99.91	1
STAT1	99.83	1
STAT2	99.89	1
STAT3	99.97	1
STAT4	99.77	1
STAT5B	99.50	1
STAT6	99.87	1
STIM1	99.99	1
STING1	99.87	1
STK4	99.91	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
STXBP3	85.74	1
SYK	99.96	1
TAFAZZIN	99.98	1
TAP1	99.97	1
TAP2	99.94	1
TAPBP	99.98	1
TBK1	99.07	1
TBX1	99.95	1
TBX21	99.99	1
TCF3	100.00	1
TCIRG1	99.99	1
TCN2	100.00	1
TERC	98.59	1
TERT	100.00	1
TET2	99.99	1
TFRC	99.87	1
TGFB1	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THBD	100.00	1
TICAM1	99.99	1
TINF2	100.00	1
TIRAP	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TLR7	99.98	1
TMC6	100.00	1
TMC8	99.92	1
TNFAIP3	99.94	1
TNFRSF11A	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFRSF1A	100.00	1
TNFRSF4	100.00	1
TNFRSF9	99.99	1
TNFSF11	99.89	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TOP2B	99.72	1
TPP2	99.89	1
TRAC	100.00	1
TRAF3	99.97	1
TRAF3IP2	100.00	1
TREX1	100.00	1
TRIM22	100.00	1
TRNT1	99.97	1
SKIC3	99.82	1
TTC7A	99.77	1
TYK2	99.99	1
UBA1	99.93	1
UNC119	100.00	1
UNC13D	100.00	1
UNC93B1	99.75	1
UNG	100.00	1
USB1	89.62	1
USP18	93.05	1
VAV1	99.99	1
VPS13B	99.90	1
VPS45	93.94	1
WAS	99.90	1
WDR1	99.99	1
WIPF1	99.87	1
WRAP53	100.00	1
XBP1	99.99	1
XIAP	99.36	1
ZAP70	99.95	1
ZBTB24	99.99	1
ZNF341	100.00	1
ZNFX1	99.99	1

Skeletal dysplasia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ALPL	100.00	1
ALX3	100.00	1
ARID1A	99.99	1
B3GALT6	92.42	1
CDC73	99.98	1
COL11A1	99.99	1
COL9A2	100.00	1
CTSK	100.00	1
DDR2	100.00	1
DHCR24	100.00	1
DVL1	100.00	1
FAM20B	100.00	1
FUCA1	100.00	1
GNAI3	99.99	1
GNPAT	99.96	1
GORAB	99.99	1
HHAT	100.00	1
HS2ST1	99.93	1
HSPG2	99.99	1
IARS2	100.00	1
LBR	99.99	1
LMNA	100.00	1
NLRP3	100.00	1
NMNAT1	95.03	1
NOTCH2	100.00	1
NRAS	99.97	1
ORC1	100.00	1
P3H1	100.00	1
PHGDH	100.00	1
PIGV	100.00	1
PLOD1	100.00	1
POLR3GL	100.00	1
PRKACB	100.00	1
PRRX1	100.00	1
RBM8A	100.00	1
SDCCAG8	99.99	1
SF3B4	100.00	1
SKI	100.00	1
SLC25A24	99.30	1
SLC35D1	99.68	1
TBCE	100.00	1
TBX15	100.00	1
TGFB2	100.00	1
TMCO1	99.91	1
TMEM53	100.00	1
ZMPSTE24	99.99	1
CHST3	100.00	1
DNA2	99.99	1
FBXW4	98.98	1
FGFR2	100.00	1
KAT6B	100.00	1
KIF5B	99.93	1
PAPSS2	99.93	1
POLR3A	100.00	1
SLC29A3	100.00	1
SMC3	99.98	1
TCTN3	100.00	1
ALG9	94.06	1
ALX4	100.00	1
ANO5	100.00	1
ARCN1	100.00	1
B3GAT3	94.88	1
BANF1	100.00	1
BBS1	100.00	1
C2CD3	99.99	1
CDKN1C	100.00	1
CREB3L1	100.00	1
CYP2R1	98.84	1
DPAGT1	100.00	1
DYNC2H1	99.84	1
EED	100.00	1
EXT2	100.00	1
FAM111A	100.00	1
FAR1	99.98	1
FERMT3	100.00	1
HRAS	100.00	1
IFITM5	100.00	1
INPPL1	99.93	1
LRP4	100.00	1
LRP5	100.00	1
LTBP3	100.00	1
MMP13	99.99	1
NADSYN1	100.00	1
PIK3C2A	99.99	1
PLCB3	100.00	1
RASGRP2	100.00	1
SERPINH1	100.00	1
SLC39A13	100.00	1
TCIRG1	100.00	1
TMEM138	100.00	1
TMEM216	100.00	1
ABCC9	99.99	1
ALX1	100.00	1
ATP6V0A2	100.00	1
BBS10	100.00	1
CEP290	99.84	1
CHST11	100.00	1
COL2A1	100.00	1
CYP27B1	100.00	1
FGF23	100.00	1
GDF3	100.00	1
GNPTAB	100.00	1
GNS	100.00	1
IFT81	94.63	1
LEMD3	100.00	1
MAPKAPK5	100.00	1
MGP	100.00	1
PDE3A	100.00	1
PEX5	100.00	1
POLE	100.00	1
POLR3B	99.98	1
PTHLH	100.00	1
PTPN11	99.98	1
RFLNA	99.50	1
SP7	100.00	1
TBX3	100.00	1
TBX5	100.00	1
TCTN1	94.52	1
TCTN2	99.95	1
TRPV4	100.00	1
VDR	99.44	1
VPS33A	95.74	1
WNT1	100.00	1
WNT10B	100.00	1
FGF9	99.98	1
GPC6	100.00	1
KL	98.69	1
POLR1D	99.94	1
TGDS	99.99	1
TNFSF11	100.00	1
AKT1	100.00	1
GNPNAT1	99.99	1
GSC	100.00	1
IFT43	100.00	1
KIAA0586	95.70	1
LTBP2	100.00	1
MMP14	100.00	1
SEC23A	99.98	1
SIX1	100.00	1
SMOC1	100.00	1
SRP54	99.97	1
TGFB3	100.00	1
LYSET	100.00	1
TRIP11	99.98	1
TTC8	99.96	1
ACAN	98.67	1
ADAMTS17	98.97	1
BBS4	100.00	1
CEP152	99.99	1
CHST14	99.49	1
CHSY1	99.98	1
DLL4	100.00	1
EFL1	100.00	1
FBN1	100.00	1
FMN1	100.00	1
GREM1	100.00	1
IDH2	99.93	1
KIF7	99.98	1
LRRK1	100.00	1
MAP2K1	100.00	1
MESD	100.00	1
MESP2	100.00	1
PPIB	100.00	1
SMAD3	100.00	1
SMAD6	100.00	1
TCF12	100.00	1
ANKRD11	100.00	1
BBS2	100.00	1
CBFB	100.00	1
CDH3	100.00	1
CDK10	100.00	1
CDT1	99.07	1
CLCN7	99.78	1
COG4	100.00	1
CREBBP	100.00	1
DHODH	100.00	1
GALNS	100.00	1
GINS2	100.00	1
GNPTG	99.45	1
IFT140	100.00	1
KIF22	100.00	1
MBTPS1	100.00	1
MMP2	100.00	1
ORC6	99.99	1
PAM16	100.00	1
PRMT7	99.99	1
RPGRIP1L	98.82	1
RPL13	100.00	1
RSPRY1	100.00	1
SALL1	100.00	1
TBC1D24	100.00	1
TBX6	100.00	1
TMEM231	100.00	1
TRAF7	100.00	1
VAC14	100.00	1
XYLT1	98.81	1
ACTG1	100.00	1
BHLHA9	99.55	1
CANT1	99.97	1
CDC6	100.00	1
COG1	100.00	1
COL1A1	100.00	1
DLX3	100.00	1
EFTUD2	100.00	1
EIF4A3	99.99	1
FKBP10	100.00	1
FZD2	100.00	1
HES7	100.00	1
KCNJ2	100.00	1
KIAA0753	100.00	1
MEOX1	100.00	1
MKS1	100.00	1
MYH3	100.00	1
NAGLU	99.96	1
NF1	99.98	1
NOG	100.00	1
NXN	100.00	1
P4HB	100.00	1
PLEKHM1	100.00	1
PRKAR1A	100.00	1
PYCR1	100.00	1
SERPINF1	100.00	1
SGSH	100.00	1
SMARCE1	99.97	1
SOST	100.00	1
SOX9	100.00	1
SUZ12	99.97	1
TBX4	99.45	1
WNT3	100.00	1
XYLT2	100.00	1
DYM	99.99	1
LPIN2	99.99	1
RBBP8	99.96	1
SMAD2	100.00	1
SMAD4	100.00	1
SMCHD1	99.97	1
TNFRSF11A	97.91	1
ACP5	100.00	1
ADAMTS10	100.00	1
AKT2	100.00	1
APC2	99.99	1
B9D2	100.00	1
CCDC8	100.00	1
COMP	100.00	1
DLL3	99.85	1
DOCK6	100.00	1
EPS15L1	100.00	1
ERF	100.00	1
FUZ	100.00	1
GPX4	96.50	1
LONP1	100.00	1
MAN2B1	100.00	1
MEGF8	99.96	1
NFIX	99.97	1
PRKACA	100.00	1
SMARCA4	100.00	1
TGFB1	100.00	1
TYROBP	100.00	1
UBA2	99.97	1
ACVR1	100.00	1
AFF3	100.00	1
AGPS	99.76	1
ANAPC1	99.82	1
ARHGAP25	100.00	1
BBS5	99.97	1
CKAP2L	100.00	1
COLEC11	100.00	1
CRIPT	100.00	1
CYP26B1	100.00	1
DNMT3A	100.00	1
DYNC2LI1	100.00	1
EIF2AK3	99.96	1
EN1	100.00	1
EXOC6B	99.77	1
FN1	100.00	1
FOSL2	100.00	1
GALNT3	99.99	1
GLI2	100.00	1
HAAO	100.00	1
HDAC4	100.00	1
HOXD13	100.00	1
IDH1	100.00	1
IFIH1	99.99	1
IFT172	100.00	1
IHH	100.00	1
IL1RN	100.00	1
KYNU	99.99	1
LTBP1	100.00	1
MAP3K20	100.00	1
MATN3	99.95	1
MTX2	99.95	1
MYCN	99.97	1
NBAS	100.00	1
NPPC	100.00	1
OBSL1	99.99	1
ORC4	100.00	1
PAX3	100.00	1
PKDCC	99.76	1
POLR1A	100.00	1
POLR1B	100.00	1
SIX2	100.00	1
SMARCAL1	100.00	1
TMEM237	99.98	1
TRAF3IP1	100.00	1
TTC21B	99.97	1
WDPCP	91.91	1
WDR35	99.99	1
WNT6	100.00	1
ASXL1	100.00	1
BMP2	99.98	1
COL9A3	100.00	1
CTSA	100.00	1
DDRGK1	100.00	1
DPM1	97.07	1
ELMO2	100.00	1
GDF5	100.00	1
GNAS	100.00	1
GZF1	100.00	1
IFT52	100.00	1
LAMA5	99.87	1
MAFB	100.00	1
MKKS	99.98	1
MMP9	100.00	1
PLCB4	100.00	1
SALL4	100.00	1
SNRPB	100.00	1
CFAP410	100.00	1
DONSON	99.81	1
PCNT	100.00	1
ALG12	100.00	1
CCDC134	100.00	1
CDC45	100.00	1
EP300	100.00	1
FBLN1	99.89	1
MCM5	100.00	1
MYO18B	100.00	1
PISD	100.00	1
SMARCB1	100.00	1
SPECC1L	100.00	1
ALG3	100.00	1
ARHGAP31	100.00	1
ARL6	100.00	1
ATR	99.98	1
CASR	100.00	1
COPB2	100.00	1
CRTAP	99.90	1
DVL3	100.00	1
DYNLT2B	100.00	1
EOGT	99.99	1
FLNB	100.00	1
GLB1	100.00	1
HYAL1	100.00	1
IFT122	100.00	1
IFT80	99.94	1
LMOD3	100.00	1
MASP1	100.00	1
MECOM	100.00	1
NEPRO	99.99	1
PCYT1A	100.00	1
PIK3CA	99.97	1
PLOD2	99.95	1
POC1A	100.00	1
PTH1R	100.00	1
SETD2	99.99	1
SLCO2A1	100.00	1
SUMF1	100.00	1
TGFBR2	100.00	1
THPO	100.00	1
TOP2B	99.85	1
TP63	99.99	1
TRAIP	100.00	1
WNT5A	100.00	1
WNT7A	100.00	1
ZIC1	100.00	1
AGA	100.00	1
ANTXR2	100.00	1
BBS12	100.00	1
BBS7	99.97	1
BMPR1B	100.00	1
CC2D2A	98.21	1
CENPE	99.92	1
DMP1	100.00	1
DSPP	100.00	1
EDNRA	100.00	1
EVC	96.08	1
EVC2	100.00	1
FGFR3	100.00	1
HPGD	99.99	1
IDUA	99.84	1
INTU	100.00	1
MAB21L2	100.00	1
MANBA	99.99	1
NEK1	99.99	1
NKX3-2	100.00	1
PRKG2	99.98	1
RAB33B	100.00	1
RBPJ	100.00	1
SEC24D	100.00	1
SGMS2	100.00	1
SH3BP2	98.03	1
SLC10A7	100.00	1
TAPT1	98.76	1
TMEM165	99.97	1
UFSP2	99.99	1
WDR19	99.94	1
ANKH	100.00	1
ARSB	99.92	1
ARSK	99.98	1
B4GALT7	99.95	1
BNIP1	100.00	1
CEP120	99.96	1
CPLANE1	99.97	1
CSF1R	100.00	1
DNAJC21	100.00	1
FBN2	99.99	1
FGF10	100.00	1
HSPA9	100.00	1
IL6ST	99.99	1
KIAA0825	99.99	1
LIFR	99.94	1
MSX2	100.00	1
NIPBL	99.91	1
NPR3	100.00	1
NSD1	100.00	1
PDE4D	99.99	1
PDGFRB	100.00	1
PITX1	100.00	1
SH3PXD2B	100.00	1
SLC26A2	100.00	1
SPARC	100.00	1
SQSTM1	100.00	1
TCOF1	100.00	1
XRCC4	100.00	1
ZSWIM6	97.48	1
ARID1B	99.51	1
CCN6	100.00	1
CILK1	99.92	1
COL10A1	100.00	1
COL11A2	100.00	1
COL9A1	99.99	1
CUL7	100.00	1
DSE	99.66	1
EDN1	100.00	1
ENPP1	99.27	1
FIG4	100.00	1
FOXC1	99.89	1
GCM2	100.00	1
GJA1	100.00	1
GMNN	99.99	1
ID4	97.95	1
MAP3K7	100.00	1
MCM3	100.00	1
NEU1	100.00	1
OSTM1	99.96	1
PEX7	100.00	1
PGM3	100.00	1
POLR1C	97.57	1
RAB23	100.00	1
RIPPLY2	99.85	1
RUNX2	100.00	1
SCUBE3	100.00	1
SLC17A5	99.99	1
SLC35B2	100.00	1
TAB2	100.00	1
TENT5A	100.00	1
TFAP2B	100.00	1
TREM2	100.00	1
ACTB	100.00	1
BBS9	99.96	1
BMPER	100.00	1
COL1A2	100.00	1
CYP3A4	99.94	1
DLX5	100.00	1
DLX6	100.00	1
DYNC2I1	96.68	1
EZH2	99.98	1
FAM20C	99.99	1
FKBP14	99.95	1
GLI3	100.00	1
GUSB	100.00	1
HOXA11	100.00	1
HOXA13	96.84	1
KDELR2	100.00	1
LFNG	94.20	1
LMBR1	99.96	1
MCM7	100.00	1
MET	100.00	1
MNX1	87.84	1
POR	100.00	1
RINT1	99.95	1
SBDS	100.00	1
SFRP4	100.00	1
SHH	100.00	1
SLC4A2	100.00	1
SMO	99.99	1
SNX10	99.97	1
TBXAS1	99.99	1
TRPV6	99.41	1
TWIST1	100.00	1
ASAH1	99.99	1
BMP1	100.00	1
BPNT2	100.00	1
CA2	100.00	1
COLEC10	100.00	1
CSGALNACT1	100.00	1
CSPP1	99.99	1
ESCO2	99.74	1
EXT1	100.00	1
EXTL3	100.00	1
FGFR1	100.00	1
GDF6	99.99	1
HGSNAT	96.79	1
NSMCE2	100.00	1
POP1	100.00	1
PTDSS1	100.00	1
RAD21	100.00	1
RECQL4	99.80	1
RSPO2	100.00	1
SLCO5A1	100.00	1
SULF1	100.00	1
TMEM67	99.30	1
TNFRSF11B	100.00	1
TONSL	100.00	1
TRPS1	100.00	1
ABL1	100.00	1
ADAMTSL2	100.00	1
COL27A1	100.00	1
RIGI	99.97	1
DYNC2I2	100.00	1
HNRNPK	100.00	1
IL11RA	100.00	1
LMX1B	100.00	1
MTAP	100.00	1
NANS	100.00	1
NOTCH1	100.00	1
NPR2	100.00	1
ROR2	99.98	1
SLC34A3	100.00	1
TGFBR1	100.00	1
TMEM38B	100.00	1
TRIM32	100.00	1
VCP	100.00	1
ZNF462	100.00	1
AIFM1	100.00	1
AMER1	100.00	1
ARSL	100.00	1
ATP7A	100.00	1
BGN	100.00	1
CCNQ	99.81	1
CLCN5	100.00	1
EBP	100.00	1
EFNB1	100.00	1
FANCB	100.00	1
FGD1	100.00	1
FGF16	100.00	1
FLNA	100.00	1
GPC3	100.00	1
GPC4	100.00	1
HDAC8	100.00	1
IDS	100.00	1
IKBKG	100.00	1
MBTPS2	100.00	1
MID1	100.00	1
NSDHL	100.00	1
OFD1	100.00	1
PHEX	99.99	1
PLS3	100.00	1
PORCN	100.00	1
SHOX	94.83	1
SMC1A	100.00	1
SMS	100.00	1
TRAPPC2	100.00	1
ZIC3	100.00	1