ENG | Belgian Genetic Tests database

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Name:	endoglin
Symbol:	ENG
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CD105 END HHT1
XREF(s):	Orphanet Reactome Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Arteriovenous malformation (7 genes)

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACVRL1	100.00	1	No comment
ENG	100.00	1	No comment
EPHB4	100.00	-2	No comment
GDF2	100.00	1	No comment
PTEN	100.00	1	No comment
RASA1	100.00	1	No comment
SMAD4	100.00	1	No comment

Congenital structural heart defects - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AATK	99.98	1
ABL1	100.00	1
ACAN	91.51	1
ACTA1	99.99	1
ACTB	100.00	1
ACTC1	98.57	1
ACTG1	100.00	1
ACTN2	99.99	1
ACVR1	99.94	1
ACVR1B	99.99	1
ACVR2A	99.15	1
ACVR2B	99.99	1
ACVRL1	99.88	1
ADAMTS10	99.99	1
ADNP	100.00	1
AKAP12	100.00	1
AKT1	100.00	1
AKT2	99.85	1
ALDH1A2	99.97	1
ALX3	99.74	1
ANKRD1	99.57	1
ANKRD11	99.85	1
AP1B1	99.99	1
APAF1	98.70	1
AR	99.76	1
ARHGAP31	100.00	1
ARID4A	99.90	1
ATP2A2	99.98	1
ATRX	99.44	1
AXIN1	100.00	1
BCOR	99.97	1
BMP10	99.96	1
BMP2	99.79	1
BMP4	100.00	1
BMP6	100.00	1
BMP7	100.00	1
BMPR1A	99.58	1
BMPR2	99.95	1
BRAF	99.78	1
BRIP1	99.39	1
BVES	99.83	1
CASQ2	94.39	1
CAV1	99.97	1
CAV3	100.00	1
CBL	99.95	1
CCDC103	99.68	1
CCDC39	99.74	1
CCDC40	100.00	1
CCDC65	99.80	1
CCN1	99.99	1
CCNO	100.00	1
CD96	99.91	1
CDK13	99.83	1
CDK4	100.00	1
CDX2	100.00	1
CENPF	99.97	1
CFAP53	99.95	1
CFC1	21.93	1
CHAC2	99.68	1
CHD4	99.99	1
CHD7	99.99	1
CHD8	99.96	1
CITED2	100.00	1
COL1A1	99.90	1
COL1A2	99.34	1
COL2A1	99.87	1
COX7B	99.86	1
CREBBP	99.97	1
CRELD1	99.99	1
CRIP2	99.99	1
CRYAB	100.00	1
CSNK1D	99.99	1
CSRP1	99.75	1
CSRP3	100.00	1
CTNNB1	99.95	1
DDX3X	99.01	1
DES	100.00	1
DIAPH3	99.85	1
DICER1	99.96	1
DLGAP5	99.83	1
DLL1	99.99	1
DLL4	100.00	1
DNAAF1	99.99	1
DNAAF11	99.80	1
DNAAF2	99.91	1
DNAAF3	99.99	1
DNAAF4	99.78	1
DNAAF5	99.99	1
DNAH11	99.93	1
DNAH5	99.98	1
DNAI1	99.92	1
DNAI2	99.86	1
DNAJB13	99.91	1
DNAH9	99.79	1
DRC1	99.93	1
DSCAM	99.99	1
DVL1	100.00	1
DYRK1A	99.98	1
E2F1	99.99	1
ECE1	99.92	1
EDNRA	99.97	1
EFEMP2	99.94	1
EFNB1	99.95	1
EFTUD2	99.93	1
EGFR	99.68	1
EGR1	99.99	1
EHMT1	98.38	1
ELN	99.86	1
ENG	100.00	1
EOGT	99.09	1
EP300	99.97	1
EPHB2	99.86	1
EPHB4	99.82	1
ERBB2	99.98	1
ERCC4	99.92	1
ESR2	99.96	1
ETS1	99.99	1
EVC	99.95	1
EVC2	99.97	1
EWSR1	99.94	1
EZH2	99.89	1
F2R	99.98	1
FABP3	99.87	1
FADD	99.97	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
FBLN1	98.69	1
FBLN7	99.95	1
FBN1	99.85	1
FBN2	99.90	1
FGF10	99.95	1
FGF8	100.00	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FHL2	100.00	1
FIBP	99.83	1
FLII	100.00	1
FLNA	99.99	1
FLNC	99.99	1
FLT1	99.99	1
FLT4	97.93	1
FN1	99.95	1
FOXC1	100.00	1
FOXC2	100.00	1
FOXH1	100.00	1
FOXK2	99.76	1
FOXL1	100.00	1
FOXL2	99.97	1
FOXO1	100.00	1
FOXP1	99.98	1
FSCN2	100.00	1
G6PC3	99.98	1
GAS8	100.00	1
GATA2	99.99	1
GATA4	99.99	1
GATA5	100.00	1
GATA6	99.90	1
GATAD2B	99.44	1
GDF1	100.00	1
GDF11	99.97	1
GDF5	100.00	1
GDNF	99.99	1
GJA1	100.00	1
GJA5	100.00	1
GJD2	99.99	1
GLB1	100.00	1
GLI2	99.93	1
GLI3	100.00	1
GPC3	99.60	1
GPC5	99.96	1
GPC6	99.98	1
GRK5	99.97	1
GTF2I	47.18	1
GTF2IRD1	99.77	1
HAND1	99.99	1
HAND2	99.97	1
HDAC8	99.74	1
HES4	100.00	1
HEY2	99.75	1
HIF1A	99.87	1
HMGB2	99.99	1
HNF1A	100.00	1
HNF4A	100.00	1
HOXA1	100.00	1
HOXB2	99.99	1
HRAS	100.00	1
HSPB1	99.97	1
HSPB8	100.00	1
HSPG2	99.87	1
HYDIN	81.28	1
ID2	100.00	1
IGF1R	100.00	1
IGFBP4	99.85	1
IKBKB	99.93	1
ILK	100.00	1
INHBA	99.98	1
INHBC	99.99	1
INPP5D	99.98	1
INSR	99.99	1
IRS1	100.00	1
IRX4	99.99	1
ISL1	99.99	1
ITGAV	99.40	1
ITGB1	99.96	1
ITGB3	99.83	1
ITGB4	99.99	1
JAG1	100.00	1
JAM3	100.00	1
JUN	100.00	1
KANSL1	99.85	1
KAT6A	99.93	1
KAT6B	99.79	1
KDM3B	99.98	1
KDM5A	99.90	1
KDM5B	97.15	1
KDM6A	99.74	1
KDR	99.86	1
KIT	99.86	1
KMT2D	99.98	1
KRAS	99.13	1
KREMEN1	99.88	1
LAMA2	99.95	1
LAMA5	99.99	1
LAMC1	99.55	1
LBR	99.66	1
LEFTY1	99.98	1
LEFTY2	100.00	1
LHX3	99.99	1
LMNA	99.96	1
LMX1B	100.00	1
LRP2	99.86	1
LTBP1	99.95	1
LTBP3	99.96	1
LZTR1	99.46	1
MAFG	100.00	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAPK14	99.95	1
MCTP2	99.99	1
MECOM	99.97	1
MED13L	99.99	1
MEF2C	99.57	1
MEGF8	99.90	1
MESP1	100.00	1
MET	99.97	1
METTL3	99.98	1
MGP	99.95	1
MID1	99.90	1
MITF	99.98	1
MMP2	99.96	1
MMP21	99.99	1
MSX1	100.00	1
MTHFD1	100.00	1
MTHFR	99.97	1
MTRR	99.98	1
MYBPC3	99.98	1
MYC	100.00	1
MYH10	99.91	1
MYH11	99.16	1
MYH6	100.00	1
MYH7	99.99	1
MYH9	99.95	1
MYL2	99.99	1
MYL3	99.99	1
MYL7	99.95	1
MYOCD	99.99	1
MYOM1	99.98	1
MYOZ2	99.99	1
NF1	99.88	1
NFATC1	100.00	1
NFIX	99.99	1
NFKB1	99.80	1
NID2	99.97	1
NIPBL	99.34	1
NKX2-1	100.00	1
NKX2-5	99.75	1
NKX2-6	100.00	1
NME8	99.83	1
NNMT	100.00	1
NODAL	99.98	1
NONO	99.94	1
NOS3	93.73	1
NOTCH1	99.98	1
NOTCH2	99.03	1
NOTCH3	99.99	1
NPHP3	99.89	1
NPHP4	99.98	1
NPPA	100.00	1
NR2F2	100.00	1
NR4A2	99.97	1
NRAS	99.66	1
NRP1	99.99	1
NRP2	99.98	1
NSD1	99.98	1
ODAD1	96.04	1
ODAD2	98.19	1
ODAD3	99.96	1
ODAD4	99.85	1
OTX2	100.00	1
PACS1	99.96	1
PAX3	100.00	1
PCSK5	99.97	1
PDGFC	99.97	1
PDGFRA	99.94	1
PDGFRB	99.99	1
PDHX	100.00	1
PIGA	99.81	1
PIGL	99.98	1
PIGN	99.91	1
PIGT	99.95	1
PITX2	99.98	1
PKD1L1	99.84	1
PLAGL1	99.96	1
PLAT	99.99	1
POU5F1	100.00	1
PPARG	99.96	1
PPARGC1A	99.82	1
PPP3CA	99.84	1
PRKACA	99.95	1
PRKD1	99.96	1
PROX1	99.98	1
PRRX1	99.56	1
PSEN1	100.00	1
PSEN2	99.97	1
PTEN	99.89	1
PTK2	99.97	1
PTP4A3	99.99	1
PTPN11	99.98	1
PUF60	100.00	1
RAB23	99.97	1
RAD21	99.91	1
RAD51C	99.02	1
RAF1	99.97	1
RAI1	99.22	1
RAI2	99.98	1
RARB	99.99	1
RARG	99.98	1
RB1	99.84	1
RBBP7	99.87	1
RBL2	99.44	1
RBM10	99.98	1
RBM8A	99.37	1
RELA	99.99	1
RERE	99.94	1
RET	99.97	1
RGS19	99.88	1
RIT1	99.78	1
RNF20	99.93	1
ROR2	99.99	1
RPGR	94.45	1
RPL11	99.81	1
RPL15	31.77	1
RPL26	30.55	1
RPL35A	97.55	1
RPL5	28.81	1
RPS10	0.00	1
RPS17	100.00	1
RPS19	100.00	1
RPS24	91.48	1
RPS26	8.99	1
RPS28	100.00	1
RPS29	99.96	1
RPS7	88.50	1
RSPH1	99.87	1
RSPH3	99.94	1
RSPH4A	99.95	1
RSPH9	99.99	1
RYR2	99.94	1
SALL1	100.00	1
SALL4	100.00	1
SCN5A	100.00	1
SESN1	99.95	1
SF3B4	99.65	1
SGCA	100.00	1
SH3PXD2B	100.00	1
SHH	100.00	1
SHOC2	99.96	1
HHAT	99.98	1
SLC19A1	99.99	1
SLC25A4	100.00	1
SLC2A10	100.00	1
SLX4	100.00	1
SMAD2	99.92	1
SMAD3	99.99	1
SMAD4	99.97	1
SMAD6	100.00	1
SMARCE1	99.87	1
SMC1A	99.98	1
SMC3	99.91	1
SMG9	99.99	1
SOS1	99.68	1
SOS2	99.39	1
SOX2	100.00	1
SOX4	99.36	1
SP1	99.98	1
SPAG1	99.78	1
SPATC1L	99.99	1
SPECC1L	99.98	1
SRCAP	99.99	1
SRF	99.99	1
STAT3	99.97	1
STRA6	99.95	1
SUZ12	98.58	1
TAB2	99.75	1
TBX1	99.95	1
TBX2	99.97	1
TBX20	99.99	1
TBX3	100.00	1
TBX5	99.98	1
TBX6	99.99	1
TCAP	100.00	1
TCF21	100.00	1
TCF3	100.00	1
TCN2	100.00	1
CRIPTO	99.82	1
TEAD1	99.97	1
TEK	99.98	1
TFAP2A	100.00	1
TFAP2B	99.98	1
TFAP2C	100.00	1
TGFB1	100.00	1
TGFB2	99.87	1
TGFB3	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TGIF1	100.00	1
THBS1	100.00	1
THBS4	100.00	1
THOC5	99.90	1
THRB	99.82	1
DDR2	97.39	1
TLL1	99.94	1
TNFRSF11A	100.00	1
TNFRSF1A	100.00	1
TNNI3	100.00	1
TNNT2	99.87	1
TNR	99.80	1
TP53	99.98	1
TP73	100.00	1
TPM1	99.92	1
TRPM2	99.99	1
TSR2	99.96	1
TTN	99.15	1
TWIST1	100.00	1
UBE2B	99.94	1
UBE2T	99.89	1
USP44	99.86	1
USP9X	99.84	1
VCAN	99.99	1
VDR	99.86	1
VEGFA	99.99	1
VEGFC	99.96	1
WASHC5	99.98	1
WDR5	100.00	1
WNT11	100.00	1
WT1	99.99	1
YY1	100.00	1
ZEB2	99.97	1
ZFHX3	99.96	1
ZFPM2	100.00	1
ZIC3	99.90	1
ZMYND10	99.99	1

Primary Arterial Hypertension (19 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACVRL1	100.00	NM_000020.2
AQP1	100.00	NM_198098.3
ATP13A3	100.00	NM_024524.3
BMPR1B	100.00	NM_001203.2
BMPR2	100.00	NM_001204.6
CAV1	100.00	NM_001753.4
EIF2AK4	100.00	NM_001013703.3
ENG	100.00	NM_000118.3
EPHB4	100.00	NM_004444.4
GDF2	100.00	NM_016204.3
KCNA5	100.00	NM_002234.3
KCNK3	100.00	NM_002246.2
KDR	100.00	NM_002253.3
RASA1	100.00	NM_002890.3
SMAD4	100.00	NM_005359.5
SMAD9	100.00	NM_001127217.2
SOX17	100.00	NM_022454.3
TBX4	100.00	NM_018488.3
SMAD1	100.00	NM_005900.3

Pulmonary Arterial Hypertension (24 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
BMPR2	100.00	0
ACVRL1	100.00	0
ENG	100.00	0
CAV1	100.00	0
SMAD9	100.00	0
KCNK3	94.00	0
BMPR1B	100.00	0
SMAD4	98.00	0
EIF2AK4	100.00	0
TBX4	95.00	0
GDF2	100.00	0

Rendu/Osler/weber (4 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ENG	100.00	1	Part of constitutional vascular panel
SMAD4	100.00	1	Part of constitutional vascular panel
GDF2	100.00	1	Part of constitutional vascular panel
ACVRL1	100.00	1	Part of constitutional vascular panel

Respiratory Disorders panel (137 genes) - Ugent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA3	99.96	1
ABCC8	99.98	1
ACVRL1	99.88	1
AP3B1	99.89	1
AQP1	99.99	1
ARHGEF1	99.97	1
ASAH1	99.90	1
ASCL1	99.82	1
ATP13A3	99.84	1
ATP6AP1	100.00	1
BDNF	100.00	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BMP10	99.96	1
BMPR1B	99.61	1
BMPR2	99.95	1
CARD11	99.97	1
CAV1	99.97	1
CCDC39	99.74	1
CCDC40	100.00	1
CD19	99.98	1
CD81	99.97	1
CIITA	99.99	1
CLEC1A	99.97	1
CLEC7A	99.98	1
COPA	99.61	1
CR2	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
DKC1	99.59	1
DNAAF1	99.99	1
DNAAF2	99.91	1
DNAH11	99.93	1
DNAH5	99.98	1
DNAI1	99.92	1
DNAI2	99.86	1
DNAH9	99.79	1
DOCK8	99.86	1
DTNBP1	99.89	1
EFEMP2	99.94	1
EIF2AK4	99.97	1
ELMOD2	99.80	1
ELN	99.86	1
ENG	100.00	1
ERBIN	99.69	1
FAM111B	99.98	1
FARSA	100.00	1
FARSB	99.64	1
FBLN5	100.00	1
FLNA	99.99	1
FNIP1	99.87	1
FOXF1	99.99	1
FOXP3	99.93	1
GARS1	99.93	1
GATA2	99.99	1
GBA1	96.92	1
GDF2	100.00	1
HPS1	100.00	1
HPS3	99.91	1
HPS4	99.98	1
HPS5	99.91	1
HPS6	100.00	1
IKZF1	99.92	1
IL6R	92.46	1
IL6ST	99.88	1
IRF2BP2	100.00	1
ITCH	95.57	1
ITGA3	99.86	1
KCNA5	100.00	1
KCNK3	100.00	1
KDR	99.86	1
LRBA	99.76	1
LTBP4	99.99	1
MARS1	99.97	1
MOGS	100.00	1
MS4A1	99.60	1
MUC5B	99.94	1
NFKB1	99.80	1
NFKB2	99.98	1
NKX2-1	100.00	1
NME8	99.83	1
NOD2	99.98	1
NOTCH3	99.99	1
NSMCE3	100.00	1
OAS1	99.96	1
PARN	99.75	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
POU2AF1	99.43	1
PTEN	99.89	1
RAC2	99.99	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RGPD4	71.96	1
RSPH4A	99.95	1
RSPH9	99.99	1
RTEL1	100.00	1
SCNN1A	100.00	1
SCNN1B	99.38	1
SCNN1G	99.94	1
SEC61A1	99.99	1
SERPINA1	100.00	1
SFTPA1	99.99	1
SFTPA2	99.81	1
SFTPB	99.99	1
SFTPC	99.99	1
SFTPD	99.62	1
SH3KBP1	99.95	1
SLC34A2	99.99	1
SLC7A7	99.99	1
SMAD4	99.97	1
SMAD9	99.99	1
SMPD1	100.00	1
SOX17	100.00	1
SPINK5	99.91	1
STAT3	99.97	1
STAT5B	99.50	1
STING1	99.87	1
TBX4	99.96	1
TERC	98.59	1
TERT	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TINF2	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TRNT1	99.97	1
TSC1	99.99	1
TSC2	99.98	1
ZNF341	100.00	1

Stroke - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA1	99.92	1
ABCC6	98.57	1
ACAD9	100.00	1
ACP5	100.00	1
ACTA2	99.99	1
ACVRL1	99.88	1
ADA2	100.00	1
APP	99.92	1
ASS1	77.52	1
ATP7A	99.87	1
C1R	99.99	1
CACNA1A	98.16	1
CBS	17.79	1
CCM2	99.93	1
CD59	100.00	1
COG6	99.86	1
COL1A1	99.90	1
COL3A1	99.87	1
COL4A1	99.99	1
COL4A2	99.98	1
COL5A1	99.99	1
COL5A2	99.86	1
COQ8A	100.00	1
CYP21A2	99.91	1
CST3	100.00	1
CTSA	99.98	1
DYRK1B	99.99	1
EFEMP2	99.94	1
ENG	100.00	1
ENPP1	99.88	1
ESCO2	99.92	1
F10	99.98	1
F13A1	99.43	1
F2	99.99	1
F5	99.59	1
F7	100.00	1
F8A1	21.76	1
FBN1	99.85	1
FGA	99.98	1
FGB	99.93	1
FGG	99.98	1
FOXC1	100.00	1
GAA	100.00	1
GATA3	99.96	1
GCDH	100.00	1
GGCX	99.88	1
GLA	99.90	1
GUCY1A1	99.99	1
HBB	100.00	1
HSD11B2	99.99	1
HTRA1	100.00	1
ITM2B	99.85	1
IVD	100.00	1
JAG1	100.00	1
JAK2	99.52	1
JAM3	100.00	1
KNG1	99.99	1
KRIT1	99.33	1
LMNA	99.96	1
MFAP5	99.96	1
MFN2	99.98	1
MMACHC	99.98	1
MMUT	99.68	1
MTHFR	99.97	1
MYH11	99.16	1
NF1	99.88	1
NOTCH3	99.99	1
OTC	99.42	1
PCCA	99.90	1
PCCB	99.97	1
PCNT	99.97	1
PDCD10	99.94	1
PDE3A	99.97	1
PKD1	99.98	1
PLG	99.89	1
PLOD1	99.93	1
PLOD3	99.89	1
PROC	99.98	1
PROS1	99.84	1
PTPN11	99.98	1
RASA1	99.05	1
SAMHD1	99.98	1
SERPINE1	99.90	1
SLC19A2	98.86	1
SLC2A10	100.00	1
SMAD3	99.99	1
SMAD4	99.97	1
SMARCAL1	99.97	1
SPARC	99.94	1
STAT1	99.83	1
STIM1	99.99	1
TGFB2	99.87	1
TGFB3	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THBD	100.00	1
TREX1	100.00	1
TSC1	99.99	1
TSC2	99.98	1
TTR	100.00	1
VHL	100.00	1
YY1AP1	99.98	1

Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (6 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACVRL1	100.00	1
ENG	100.00	1
SMAD4	100.00	0
GDF2	100.00	0
EPHB4	100.00	0
RASA1	100.00	0

Trombosis - Hemostasis (107 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABCC4	95.00	0	NM_005845.4/ interpretable range CS1>95%
ABCG5	95.00	0	NM_022436.2/ interpretable range CS1>95%
ABCG8	95.00	0	NM_022437.2/ interpretable range CS1>95%
ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
ACTN1	95.00	0	NM_001130004.1/ interpretable range CS1>95%
ACVRL1	95.00	0	NM_000020.2/ interpretable range CS1>95%
ADAMTS13	95.00	0	NM_139025.4/ interpretable range CS1>95%
ANKRD26	95.00	0	NM_014915.2/ interpretable range CS1>95%
ANO6	95.00	0	NM_001025356.2/ interpretable range CS1>95%
AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
AP3D1	95.00	0	NM_001261826.1/ interpretable range CS1>95%
ARPC1B	95.00	0	NM_005720.3/ interpretable range CS1>95%
BLOC1S3	95.00	0	NM_212550.3/ interpretable range CS1>95%
BLOC1S5	95.00	0	NM_201280.2/ interpretable range CS1>95%
BLOC1S6	95.00	0	NM_012388.2/ interpretable range CS1>95%
CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
CHST14	95.00	0	NM_130468.3/ interpretable range CS1>95%
COL1A1	95.00	0	NM_000088.3/ interpretable range CS1>95%
COL3A1	95.00	0	NM_000090.3/ interpretable range CS1>95%
COL4A1	95.00	0	NM_001845.5/ interpretable range CS1>95%
COL4A2	95.00	0	NM_001846.3/ interpretable range CS1>95%
COL5A1	95.00	0	NM_000093.4/ interpretable range CS1>95%
COL5A2	95.00	0	NM_000393.3/ interpretable range CS1>95%
CYCS	95.00	0	NM_018947.5/ interpretable range CS1>95%
DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
ENG	95.00	0	NM_000118.3/ interpretable range CS1>95%
ETV6	95.00	0	NM_001987.4/ interpretable range CS1>95%
F10	95.00	0	NM_000504.3/ interpretable range CS1>95%
F11	95.00	0	NM_000128.3/ interpretable range CS1>95%
F12	95.00	0	NM_000505.3/ interpretable range CS1>95%
F13A1	95.00	0	NM_000129.3/ interpretable range CS1>95%
F13B	95.00	0	NM_001994.2/ interpretable range CS1>95%
F2	95.00	0	NM_000506.3/ interpretable range CS1>95%
F5	95.00	0	NM_000130.4/ interpretable range CS1>95%
F7	95.00	0	NM_000131.4/ interpretable range CS1>95%
F8	95.00	0	NM_000132.3/ interpretable range CS1>95%
F9	95.00	0	NM_000133.3/ interpretable range CS1>95%
FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
FGA	95.00	0	NM_021871.2/ interpretable range CS1>95%
FGB	95.00	0	NM_005141.4/ interpretable range CS1>95%
FGG	95.00	0	NM_000509.4/ interpretable range CS1>95%
FLII	95.00	0	NM_002017.4/ interpretable range CS1>95%
FLNA	95.00	0	NM_001456.3/ interpretable range CS1>95%
FYB1	95.00	0	NM_001465.5/ interpretable range CS1>95%
GATA1	95.00	0	NM_002049.3/ interpretable range CS1>95%
GDF2	95.00	0	NM_016204.3/ interpretable range CS1>95%
GFI1B	95.00	0	NM_004188.5/ interpretable range CS1>95%
GGCX	95.00	0	NM_000821.5/ interpretable range CS1>95%
GNE	95.00	0	NM_001128227.2/ interpretable range CS1>95%
GP1BA	95.00	0	NM_000173.6/ interpretable range CS1>95%
GP1BB	95.00	0	NM_000407.4/ interpretable range CS1>95%
GP6	95.00	0	NM_001083899.2/ interpretable range CS1>95%
GP9	95.00	0	NM_000174.4/ interpretable range CS1>95%
HOXA11	95.00	0	NM_005523.5/ interpretable range CS1>95%
HPS1	95.00	0	NM_000195.3/ interpretable range CS1>95%
HPS3	95.00	0	NM_032383.3/ interpretable range CS1>95%
HPS4	95.00	0	NM_022081.5/ interpretable range CS1>95%
HPS5	95.00	0	NM_181507.1/ interpretable range CS1>95%
HPS6	95.00	0	NM_024747.5/ interpretable range CS1>95%
HRG	95.00	0	NM_000412.3/ interpretable range CS1>95%
IKZF5	95.00	0	NM_001271840.1/ interpretable range CS1>95%
ITGA2B	95.00	0	NM_000419.3/ interpretable range CS1>95%
ITGB3	95.00	0	NM_000212.2/ interpretable range CS1>95%
KDSR	95.00	0	NM_002035.2/ interpretable range CS1>95%
KNG1	95.00	0	NM_001102416.2/ interpretable range CS1>95%
LMAN1	95.00	0	NM_005570.3/ interpretable range CS1>95%
LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
MCFD2	95.00	0	NM_139279.5/ interpretable range CS1>95%
MECOM	95.00	0	NM_001105078.3/ interpretable range CS1>95%
MPIG6B	95.00	0	NM_025260.3/ interpretable range CS1>95%
MPL	95.00	0	NM_005373.2/ interpretable range CS1>95%
MYH9	95.00	0	NM_002473.5/ interpretable range CS1>95%
NBEA	95.00	0	NM_015678.4/ interpretable range CS1>95%
NBEAL2	95.00	0	NM_015175.2/ interpretable range CS1>95%
P2RY12	95.00	0	NM_022788.4/ interpretable range CS1>95%
PIGA	95.00	0	NM_002641.3/ interpretable range CS1>95%
PLA2G4A	95.00	0	NM_024420.2/ interpretable range CS1>95%
PLAU	95.00	0	NM_002658.3/ interpretable range CS1>95%
PLG	95.00	0	NM_000301.3/ interpretable range CS1>95%
PROC	95.00	0	NM_000312.3/ interpretable range CS1>95%
PROS1	95.00	0	NM_000313.3/ interpretable range CS1>95%
PTGS1	95.00	0	NM_000962.3/ interpretable range CS1>95%
RASGRP2	95.00	0	NM_153819.1/ interpretable range CS1>95%
RBM8A	95.00	0	NM_005105.4/ interpretable range CS1>95%
RUNX1	95.00	0	NM_001754.4/ interpretable range CS1>95%
SERPINC1	95.00	0	NM_000488.3/ interpretable range CS1>95%
SERPIND1	95.00	0	NM_000185.3/ interpretable range CS1>95%
SERPINE1	95.00	0	NM_000602.4/ interpretable range CS1>95%
SERPINF2	95.00	0	NM_000934.3/ interpretable range CS1>95%
SLFN14	95.00	0	NM_001129820.1/ interpretable range CS1>95%
SMAD4	95.00	0	NM_005359.5/ interpretable range CS1>95%
SRC	95.00	0	NM_005417.4/ interpretable range CS1>95%
STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
STXBP2	95.00	0	NM_006949.3/ interpretable range CS1>95%
TBXA2R	95.00	0	NM_001060.5/ interpretable range CS1>95%
TBXAS1	95.00	0	NM_001061.4/ interpretable range CS1>95%
THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
THPO	95.00	0	NM_000460.3/ interpretable range CS1>95%
TPM4	95.00	0	NM_001145160.1/ interpretable range CS1>95%
TUBB1	95.00	0	NM_030773.3/ interpretable range CS1>95%
VIPAS39	95.00	0	NM_022067.3/ interpretable range CS1>95%
VKORC1	95.00	0	NM_024006.4/ interpretable range CS1>95%
VPS33B	95.00	0	NM_018668.4/ interpretable range CS1>95%
VWF	95.00	0	NM_000552.3/ interpretable range CS1>95%
WAS	95.00	0	NM_000377.2/ interpretable range CS1>95%
RAP1B	95.00	-2	NM_015646.6/ interpretable range CS1>95%

Vascular malformations (germline) (38 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
KRIT1	100.00	1	exons 5 - 20
CCM2	100.00	1	exons 1 - 10
PDCD10	100.00	1	exons 3 - 9
RASA1	100.00	1	exons 1-25
EPHB4	100.00	1	exons 1-17
STAMBP	100.00	1	exons 3-11
PTEN	100.00	1	exons 1-9
ACVRL1	100.00	1	exons 2-10
ENG	100.00	1	exons 1-15
SMAD4	100.00	1	exons 2-12
GDF2	100.00	1	exons 1-2
TEK	100.00	1	exons 1-23
GLMN	100.00	1	exons 2-19
ANGPT2	100.00	1	exons 1-9
CCBE1	100.00	1	exons 1-11
CDC42	100.00	1	exons 2-6
FAT4	100.00	1	exons 1-17
FLT4	100.00	1	exons 1-30
FOXC2	100.00	1	exon 1
GATA2	100.00	1	exons 3-7
GJA1	100.00	1	exon 2
GJC2	100.00	1	exon 2
HGF	100.00	1	exons 1-18
HRAS	100.00	1	exons 2-5
IKBKG	100.00	1	exons 1-10
ITGA9	100.00	1	exons 1-28
KIF11	100.00	1	exons 1-22
KRAS	100.00	1	exons 1-5
NRAS	100.00	1	exons 2-5
PIEZO1	100.00	1	exons 1-51
PTPN11	100.00	1	exons 1-15
PTPN14	100.00	1	exons 2-19
RAF1	100.00	1	exons 2-17
SOS1	100.00	1	exons 1-23
SOX18	100.00	1	exons 1-2
TSC1	100.00	1	exons 3-23
TSC2	100.00	1	exons 1-42
VEGFC	100.00	1	exons 2-7

test-test

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
KRIT1	100.00	1	exons 5 - 20
CCM2	100.00	1	exons 1 - 10
PDCD10	100.00	1	exons 3 - 9
RASA1	100.00	1	exons 1-25
EPHB4	100.00	1	exons 1-17
STAMBP	100.00	1	exons 3-11
PTEN	100.00	1	exons 1-9
ACVRL1	100.00	1	exons 2-10
ENG	100.00	1	exons 1-15
SMAD4	100.00	1
GDF2	100.00	1
TEK	100.00	1
GLMN	100.00	1
ANGPT2	100.00	1
CCBE1	100.00	1
CDC42	100.00	1
FAT4	100.00	1
FLT4	100.00	1
FOXC2	100.00	1
GATA2	100.00	1
GJA1	100.00	1
GJC2	100.00	1
HGF	100.00	1
HRAS	100.00	1
IKBKG	100.00	1
ITGA9	100.00	1
KIF11	100.00	1
KRAS	100.00	1
NRAS	100.00	1
PIEZO1	100.00	1
PTPN11	100.00	1
PTPN14	100.00	1
RAF1	100.00	1
SOS1	100.00	1
SOX18	100.00	1
TSC1	100.00	1
TSC2	100.00	1
VEGFC	100.00	1