ISL1 | Belgian Genetic Tests database

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Name:	ISL LIM homeobox 1
Symbol:	ISL1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ISLET1 Isl-1
XREF(s):	Orphanet Reactome SwissProt Ensembl Genatlas HGNC OMIM
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Related Gene Panels

Cardiomyopathy, hereditary (208 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCC9	100.00	No comment
ACAD9	100.00	No comment
ACADVL	98.89	No comment
ACE	97.11	No comment
ACTA1	100.00	No comment
ACTC1	100.00	No comment
ACTN2	100.00	No comment
ADD3	100.00	No comment
ADRB2	100.00	No comment
AGXT	100.00	No comment
AGTR1	100.00	No comment
AKAP9	100.00	No comment
ALPK3	98.02	No comment
ANKRD1	100.00	No comment
APOA1	99.97	No comment
B2M	100.00	No comment
BAG3	100.00	No comment
BRAF	96.97	No comment
CACNA1C	100.00	No comment
CACNB2	100.00	No comment
CALM1	100.00	No comment
CALM2	100.00	No comment
CALM3	99.99	No comment
CALR3	100.00	No comment
CASQ2	100.00	No comment
CASZ1	95.56	No comment
CAV3	100.00	No comment
CAVIN4	100.00	No comment
CBL	100.00	No comment
CDH2	97.48	No comment
CHRM2	100.00	No comment
CMYA5	99.99	No comment
CNBP	100.00	No comment
COA5	100.00	No comment
COA6	100.00	No comment
COX10	100.00	No comment
COX15	100.00	No comment
CRYAB	100.00	No comment
CSRP3	100.00	No comment
CTF1	30.96	No comment
CTNNA3	100.00	No comment
DES	100.00	No comment
DLG1	100.00	No comment
DMD	100.00	No comment
DNAJC19	100.00	No comment
DNM1L	100.00	No comment
DOLK	100.00	No comment
DSC3	98.44	No comment
DSG2	99.61	No comment
DSP	100.00	No comment
DTNA	100.00	No comment
ECRG4	99.32	No comment
ELAC2	99.99	No comment
ELN	100.00	No comment
EMD	99.84	No comment
EYA4	100.00	No comment
FBXO32	100.00	No comment
CFH	100.00	No comment
FHL2	100.00	No comment
FHOD3	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNC	100.00	No comment
FLT1	99.53	No comment
FOXD4	100.00	No comment
FXN	89.89	No comment
GAA	100.00	No comment
GATA4	80.69	No comment
GATA5	97.28	No comment
GATA6	81.11	No comment
GATAD1	88.18	No comment
GLA	100.00	No comment
GTPBP3	100.00	No comment
HACD1	95.46	No comment
HADHB	100.00	No comment
HAND1	100.00	No comment
HCN4	92.35	No comment
HIF1A	100.00	No comment
HRAS	100.00	No comment
HSPB6	99.65	No comment
HSPB7	100.00	No comment
ILK	100.00	No comment
INS-IGF2	99.94	No comment
ISL1	100.00	No comment
JPH2	95.10	No comment
JUP	100.00	No comment
KARS1	100.00	No comment
KAT2B	94.80	No comment
KCND2	100.00	No comment
KCNE1	100.00	No comment
KCNH2	94.44	No comment
KCNJ12	100.00	No comment
KCNQ1	91.07	No comment
KIF20A	100.00	No comment
KLF10	100.00	No comment
LAMA2	100.00	No comment
LAMA4	100.00	No comment
LAMP2	100.00	No comment
LDB3	100.00	No comment
LMNA	99.93	No comment
LRRC10	100.00	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MIB1	100.00	No comment
MIB2	99.31	No comment
MRPL3	100.00	No comment
MRPL44	100.00	No comment
MTO1	95.75	No comment
MYBPC3	100.00	No comment
MYH15	100.00	No comment
MYH6	100.00	No comment
MYH7	100.00	No comment
MYH7B	99.96	No comment
MYL2	100.00	No comment
MYL3	100.00	No comment
MYLK2	100.00	No comment
MYO6	100.00	No comment
MYOM1	100.00	No comment
MYOM3	100.00	No comment
MYOZ1	100.00	No comment
MYOZ2	100.00	No comment
MYPN	100.00	No comment
NAA10	96.03	No comment
NCOA6	100.00	No comment
NDUFAF1	100.00	No comment
NDUFV2	100.00	No comment
NEB	99.99	No comment
NEBL	100.00	No comment
NEXN	100.00	No comment
NKX2-5	100.00	No comment
NPPA	100.00	No comment
NRAP	100.00	No comment
OBSCN	99.26	No comment
OBSL1	98.31	No comment
MED12	100.00	No comment
PDLIM3	100.00	No comment
PKP2	99.87	No comment
PLEC	99.82	No comment
PLEKHM2	99.60	No comment
PLN	100.00	No comment
PPCS	100.00	No comment
PRDM16	100.00	No comment
PRKAG2	95.88	No comment
PRNP	100.00	No comment
PSEN1	100.00	No comment
PSEN2	100.00	No comment
PTEN	98.86	No comment
PTPN11	98.80	No comment
RAF1	100.00	No comment
RANGRF	100.00	No comment
RBM20	99.82	No comment
RIT1	100.00	No comment
RPSA	97.87	No comment
RRAGC	99.99	No comment
RTKN2	100.00	No comment
RYR2	100.00	No comment
S100A1	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SDHA	98.02	No comment
SGCB	94.58	No comment
SGCD	100.00	No comment
SGCG	100.00	No comment
SGK1	99.99	No comment
SHOC2	100.00	No comment
SLC12A1	100.00	No comment
SLC22A5	100.00	No comment
SLC25A3	100.00	No comment
SLC25A4	99.09	No comment
SMC1A	100.00	No comment
SNTA1	84.25	No comment
SOD2	100.00	No comment
SOS1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYNM	92.59	No comment
TAF1A	100.00	No comment
TAX1BP3	100.00	No comment
WWTR1	99.81	No comment
TBX20	100.00	No comment
TBX5	100.00	No comment
TCAP	100.00	No comment
TCF21	100.00	No comment
TGFB3	100.00	No comment
TJP1	99.14	No comment
TK2	95.90	No comment
TMED4	100.00	No comment
TMEM43	100.00	No comment
TMEM87B	99.37	No comment
TMPO	99.87	No comment
TNNI3	100.00	No comment
TNNI3K	100.00	No comment
TNNT2	100.00	No comment
TNNT3	100.00	No comment
TPM1	99.98	No comment
TRIM54	99.66	No comment
TRIM55	100.00	No comment
TRIM63	100.00	No comment
TRPM4	100.00	No comment
TSFM	93.22	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TXNRD2	96.90	No comment
VCL	100.00	No comment
VEGFA	98.73	No comment
YWHAE	98.69	No comment
ZBTB17	100.00	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