TSR2 | Belgian Genetic Tests database

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Name:	TSR2 ribosome maturation factor
Symbol:	TSR2
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	DT1P1A10 RP1-112K5.2 WGG motif containing 1 WGG1 escortin
XREF(s):	Orphanet Reactome Ensembl HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACBD5	99.02	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ACTB	99.66	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ACTG1	99.69	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ALG9	98.59	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ALX1	99.44	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ALX3	94.97	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
AMER1	99.32	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ANKRD11	97.83	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ARCN1	95.67	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ARHGAP29	98.59	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ARHGAP31	99.24	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ASXL1	99.06	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ATR	98.68	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ATRX	95.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
B3GALT6	73.48	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
B3GLCT	95.09	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
B3GAT3	99.41	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
B4GALT7	93.74	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
BCOR	97.89	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
BMP2	99.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
BMP4	98.86	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
BUB1B	98.64	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
C2CD3	98.74	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CPLANE1	98.74	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CANT1	98.01	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CASK	95.53	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CC2D2A	98.44	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CDC45	99.12	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CDH1	96.99	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CDKN1C	84.75	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CHD1	98.24	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CHD7	98.93	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CHRNG	98.79	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CHST14	97.60	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CHSY1	93.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CKAP2L	99.02	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COL11A1	98.75	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COL11A2	99.18	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COL2A1	99.37	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COL9A1	99.03	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COL9A2	98.84	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COL9A3	94.99	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COLEC10	98.49	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
COLEC11	99.54	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CTCF	98.66	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CTNND1	98.92	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DDX3X	94.27	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DDX59	98.52	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DHCR7	99.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DHODH	98.80	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DIS3L2	98.60	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DLG1	97.91	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DLL4	99.12	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DLX4	98.90	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DNMT3B	99.05	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DOCK6	98.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DVL1	99.36	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DVL3	98.58	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DYNC2H1	97.50	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DYNC2LI1	98.39	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EBP	98.35	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EDN1	98.64	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EDNRA	99.01	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EFNB1	98.26	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EFTUD2	97.81	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EIF2S3	97.53	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EIF4A3	99.29	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EOGT	89.16	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EPG5	98.75	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SELENOI	98.42	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ESCO2	97.31	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ESRP2	98.80	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
EYA1	98.89	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FAM111A	99.36	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FAM20C	95.32	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FANCL	99.05	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FBXO11	97.46	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FGD1	95.34	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FGFR1	98.82	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FGFR2	99.27	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FLNA	98.22	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FLNB	98.65	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FOXC2	91.54	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FOXE1	85.61	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FOXP2	98.67	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FRAS1	98.69	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FREM2	99.03	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
FTO	99.12	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GATA3	98.80	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GATA6	89.01	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GDF1	74.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GJA1	99.61	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GLI3	99.03	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GMNN	96.00	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GNAI3	97.68	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GNB1	98.26	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GPC3	95.58	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GRHL3	98.63	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GRIP1	99.24	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
GYPE	96.86	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
HDAC8	97.37	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
HOXA2	98.09	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
HYLS1	99.33	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
CILK1	98.21	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
IFT140	98.96	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
IFT172	99.18	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
IFT52	98.26	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
IFT80	98.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
BPNT2	98.74	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
INTS1	98.84	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
IRF6	98.57	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KANSL1	99.21	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KAT6A	99.21	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KAT6B	98.93	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KCNJ2	99.60	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KDM1A	97.34	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KDM6A	94.98	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
WASHC5	98.05	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KIAA0586	93.67	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KIFBP	99.06	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KIF22	98.55	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KIF7	95.81	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
KMT2D	99.42	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
LMNA	98.34	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
LMX1B	99.48	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MAP3K7	98.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MAPRE2	99.06	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MASP1	99.11	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MBTPS2	97.08	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MED12	97.56	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MED13L	99.16	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MED25	97.71	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MEIS2	99.34	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MEOX1	98.59	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
METTL23	99.44	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MID1	97.97	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MKS1	98.50	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MSX1	97.33	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NBN	98.52	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NEDD4L	98.26	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NEK1	98.70	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NIPBL	98.36	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NOTCH1	98.71	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NSDHL	98.23	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
OFD1	92.64	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PAX3	99.25	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PGAP2	99.35	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PGM1	97.96	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PHF8	97.80	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PHGDH	99.01	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PIEZO2	98.41	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PIGA	95.72	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PIGL	99.37	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PIGN	97.14	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PIGV	99.40	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PIK3R2	91.88	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PLCB4	98.47	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PLEKHA5	98.64	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PLEKHA7	98.78	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
POLR1A	98.85	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
POLR1C	99.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
POLR1D	94.63	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
POMT1	99.18	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
POMT2	98.02	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PORCN	98.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PQBP1	97.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PSAT1	99.13	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PTCH1	97.93	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
PTDSS1	99.26	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
NECTIN1	99.17	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RAI1	99.36	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RARB	99.16	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RBM10	96.69	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RBM8A	99.51	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RBPJ	99.34	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ROR2	97.51	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RPL11	98.92	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RPL5	99.03	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RPS17	23.41	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RPS19	98.57	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RPS26	99.05	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RPS28	98.92	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RSPO2	99.51	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
RYR1	97.29	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SALL4	99.46	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SATB2	99.10	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SCARF2	92.67	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SEC23A	98.45	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SF3B4	98.79	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SHH	96.34	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SIX1	99.06	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SIX3	97.42	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SIX5	95.99	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SKI	94.22	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SLC26A2	99.37	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMAD2	98.98	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMAD3	98.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMAD4	98.88	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMC1A	97.25	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMC3	98.17	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMG9	98.75	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMOC1	99.21	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SMS	92.24	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SNRPB	98.79	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SON	99.30	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SOX2	98.45	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SOX9	98.24	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SPECC1L	99.14	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
STAMBP	98.96	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
STIL	98.89	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
STRA6	98.13	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
STXBP1	99.15	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
SUMO1	99.29	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TBX1	78.98	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TBX15	99.05	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TBX22	98.10	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TCOF1	98.78	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TCTN3	99.11	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TELO2	98.18	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TFAP2A	98.89	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TFAP2B	99.41	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TGDS	98.48	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TGFB2	99.03	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TGFB3	98.59	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TGFBR1	94.09	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TGFBR2	99.19	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TMCO1	94.65	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
MYMK	99.30	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TP63	98.96	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TRAPPC9	98.84	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TRIM37	98.72	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TSR2	93.37	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TTC21B	98.73	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TUBB	99.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TWIST2	99.02	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
TXNL4A	99.36	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
UBB	99.73	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
UQCC2	99.28	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
USP9X	95.07	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
VAX1	87.54	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
WDR19	98.24	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DYNC2I2	98.11	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
WDR35	98.76	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
DYNC2I1	98.63	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
WNT3	98.41	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
WNT5A	98.46	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
XYLT1	89.98	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
YAP1	97.50	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ZBTB24	99.57	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ZEB2	98.72	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ZIC2	87.82	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ZIC3	98.69	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ZMPSTE24	97.91	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
ZSWIM6	88.46	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)

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

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