KREMEN1

Analyte Export to PDF

Name:	kringle containing transmembrane protein 1
Symbol:	KREMEN1
XREF(s):	OMIM HGNC ORPHANET
Created:	08 Mar 2022 - 14:41
Changed:	08 Mar 2022 - 14:41

Related Genetic Tests

• Congenital structural heart defects (gene panel)
• Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
• Skin disorders (gene panel)

Related Gene Panels

• Congenital structural heart defects - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  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

• Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  A2ML1	100.00	0
  AAGAB	97.88	0
  ABCA12	100.00	0
  ABCB6	100.00	0
  ABCC6	99.97	0
  ABHD5	100.00	0
  ACD	100.00	0
  ADAM10	100.00	0
  ADAMTS2	95.82	0
  ADAR	100.00	0
  AIM1	100.00	0
  AKT1	100.00	0
  ALDH18A1	100.00	0
  ALDH3A2	99.94	0
  ALOX12B	100.00	0
  ALOXE3	100.00	0
  ANTXR1	100.00	0
  AP1S1	100.00	0
  AP3B1	100.00	0
  APCDD1	99.97	0
  AQP5	99.87	0
  ARHGAP31	100.00	0
  ARSL	99.95	0
  ASAH1	100.00	0
  ATM	100.00	0
  ATP2A2	100.00	0
  ATP2C1	100.00	0
  ATP6V0A2	99.98	0
  ATP6V1A	100.00	0
  ATP6V1E1	99.99	0
  ATP7A	100.00	0
  AXIN2	100.00	0
  B3GALT6	63.11	0
  B4GALT7	90.91	0
  BANF1	97.55	0
  BCS1L	100.00	0
  BLM	100.00	0
  BLOC1S3	95.69	0
  BLOC1S6	100.00	0
  BRAF	96.86	0
  LRMDA	100.00	0
  KDF1	100.00	0
  CARD14	99.96	0
  CBL	100.00	0
  CBS	99.92	0
  CD151	99.99	0
  CDH3	100.00	0
  CDK4	100.00	0
  CDKN1B	100.00	0
  CDKN2A	99.69	0
  CDSN	99.93	0
  CERS3	100.00	0
  CHST14	99.81	0
  CHST8	100.00	0
  CHUK	99.59	0
  CLCF1	100.00	0
  CLDN1	100.00	0
  CLDN10	100.00	0
  COG6	100.00	0
  COL11A1	100.00	0
  COL12A1	100.00	0
  COL17A1	100.00	0
  COL1A1	100.00	0
  COL1A2	99.41	0
  COL3A1	99.99	0
  COL5A1	98.23	0
  COL5A2	100.00	0
  COL7A1	100.00	0
  CREBBP	99.98	0
  CRLF1	89.67	0
  CSTA	100.00	0
  CTC1	99.71	0
  CTSC	100.00	0
  CYLD	100.00	0
  CYP26C1	97.30	0
  CYP4F22	99.27	0
  DDB2	100.00	0
  DIP2B	99.71	0
  DKC1	99.92	0
  DLL4	100.00	0
  DLX3	99.95	0
  DNMT1	99.69	0
  DOCK6	99.13	0
  DOLK	100.00	0
  DSC3	98.96	0
  DSE	100.00	0
  DSG1	100.00	0
  DSG2	99.89	0
  DSG4	100.00	0
  DSP	100.00	0
  DST	100.00	0
  DTNBP1	99.96	0
  GLB1	100.00	0
  ECM1	100.00	0
  EDA	99.05	0
  EDAR	100.00	0
  EDARADD	100.00	0
  EDN3	99.95	0
  EDNRB	100.00	0
  EFEMP2	100.00	0
  ELN	99.96	0
  ELOVL4	100.00	0
  ENPP1	97.25	0
  EOGT	100.00	0
  EP300	100.00	0
  EPG5	99.99	0
  ERCC2	99.35	0
  ERCC3	100.00	0
  ERCC4	99.99	0
  ERCC5	100.00	0
  ERCC6	100.00	0
  ERCC8	100.00	0
  EVC	94.53	0
  EVC2	98.69	0
  EXPH5	100.00	0
  F12	99.81	0
  FAM111B	100.00	0
  RETREG1	93.87	0
  FAM83G	100.00	0
  FBLN5	100.00	0
  FBN1	100.00	0
  FBN2	100.00	0
  FERMT1	99.96	0
  FGFR2	100.00	0
  FGFR3	99.36	0
  FH	100.00	0
  FKBP14	100.00	0
  FLCN	100.00	0
  FGFR1	100.00	0
  FLG2	100.00	0
  FOXN1	100.00	0
  FZD6	100.00	0
  GALNT3	100.00	0
  GAN	98.95	0
  GBA1	100.00	0
  GGCX	99.91	0
  GHR	99.21	0
  GJA1	100.00	0
  GJB2	100.00	0
  GJB3	100.00	0
  GJB4	100.00	0
  GJB6	100.00	0
  GLA	100.00	0
  GNAS	100.00	0
  GORAB	100.00	0
  GPR143	89.17	0
  GRHL2	100.00	0
  GSN	97.95	0
  GTF2E2	100.00	0
  GTF2H5	100.00	0
  HAMP	100.00	0
  HCCS	100.00	0
  HDAC8	99.82	0
  HFE	100.00	0
  HJV	100.00	0
  HGD	100.00	0
  HLCS	100.00	0
  HOXC13	96.56	0
  HPGD	99.87	0
  HPS1	100.00	0
  HPS3	99.99	0
  HPS4	99.99	0
  HPS5	100.00	0
  HPS6	96.32	0
  HR	99.78	0
  HRAS	100.00	0
  IFT122	99.99	0
  IFT43	100.00	0
  ELP1	100.00	0
  IKBKG	96.27	0
  IL31RA	100.00	0
  INSR	96.81	0
  ITGA3	99.99	0
  ITGA6	100.00	0
  ITGB4	98.77	0
  JUP	100.00	0
  KANK2	99.99	0
  KCNH1	100.00	0
  KCTD1	100.00	0
  KDM6A	99.63	0
  KDSR	99.98	0
  KIF1A	99.07	0
  KIT	99.98	0
  KITLG	100.00	0
  KL	96.52	0
  KLHL24	100.00	0
  KLLN	100.00	0
  KMT2D	99.99	0
  KRAS	100.00	0
  KREMEN1	92.10	0
  KRT1	99.80	0
  KRT10	99.93	0
  KRT14	100.00	0
  KRT16	99.48	0
  KRT17	92.10	0
  KRT2	100.00	0
  KRT5	100.00	0
  KRT6A	100.00	0
  KRT6B	100.00	0
  KRT6C	99.44	0
  KRT71	99.95	0
  KRT74	99.99	0
  KRT81	100.00	0
  KRT83	99.99	0
  KRT85	99.27	0
  KRT86	99.98	0
  KRT9	100.00	0
  LAMA4	99.75	0
  LAMB3	100.00	0
  LAMC2	99.43	0
  LEMD3	99.97	0
  LIPH	100.00	0
  LIPN	100.00	0
  LMNA	99.52	0
  LMX1B	99.55	0
  LORICRIN	100.00	0
  LPAR6	100.00	0
  LRP1	100.00	0
  LTBP4	99.49	0
  LYST	100.00	0
  LZTR1	99.92	0
  MAP2K1	100.00	0
  MAP2K2	99.99	0
  MAPRE2	100.00	0
  MBTPS2	100.00	0
  MC1R	100.00	0
  MEN1	99.83	0
  MITF	100.00	0
  MLH1	99.99	0
  MLPH	100.00	0
  MMP1	99.99	0
  MMP2	99.93	0
  MPDU1	100.00	0
  MPLKIP	100.00	0
  MSH2	100.00	0
  MSH6	99.92	0
  MSMO1	100.00	0
  MSX1	99.53	0
  MUTYH	100.00	0
  MYO5A	99.78	0
  NF1	98.85	0
  NF2	99.97	0
  NFKBIA	99.97	0
  NGF	100.00	0
  NHP2	100.00	0
  NIPAL4	100.00	0
  NIPBL	99.62	0
  RMRP	100.00	0
  NOP10	100.00	0
  NOTCH1	98.81	0
  NRAS	100.00	0
  NSDHL	100.00	0
  NTRK1	98.91	0
  OCA2	99.73	0
  OFD1	97.68	0
  ORAI1	93.55	0
  OSMR	100.00	0
  PADI3	100.00	0
  PARN	100.00	0
  PAX3	100.00	0
  PDGFRB	100.00	0
  PEX7	96.12	0
  PHYH	99.87	0
  PIGL	100.00	0
  PIK3CA	100.00	0
  PKP1	100.00	0
  PLCD1	99.74	0
  PLEC	99.33	0
  PLOD1	98.77	0
  PLOD3	99.97	0
  PMS2	98.83	0
  PNPLA1	99.66	0
  POFUT1	99.99	0
  POGLUT1	100.00	0
  POLD1	99.84	0
  POLH	100.00	0
  NT5C3A	100.00	0
  PORCN	99.13	0
  PPP1CB	100.00	0
  PRDM12	83.27	0
  PRDM5	100.00	0
  PRKAR1A	100.00	0
  PRKD1	97.12	0
  PSAT1	99.73	0
  PSENEN	100.00	0
  PTCH1	99.03	0
  PTCH2	100.00	0
  PTDSS1	100.00	0
  PTEN	99.64	0
  PTPN11	94.81	0
  NECTIN1	99.68	0
  NECTIN4	99.41	0
  PYCR1	100.00	0
  RAB27A	100.00	0
  RAD21	100.00	0
  RAF1	100.00	0
  RASA2	99.74	0
  RBPJ	99.69	0
  RECQL4	96.90	0
  RET	96.88	0
  RHBDF2	100.00	0
  RIN2	100.00	0
  RIPK4	99.98	0
  RIT1	100.00	0
  RNF113A	100.00	0
  RPL21	84.30	0
  RRAS	98.63	0
  RSPO1	100.00	0
  RTEL1	100.00	0
  SASH1	99.88	0
  SCN11A	99.99	0
  SCN9A	99.99	0
  SDHB	99.35	0
  SDHD	99.95	0
  SEC23B	100.00	0
  SERPINB7	100.00	0
  SERPINB8	100.00	0
  SERPING1	97.68	0
  SETBP1	100.00	0
  SGPL1	100.00	0
  SHOC2	100.00	0
  HHAT	93.18	0
  SKIC2	100.00	0
  SLC24A5	100.00	0
  SLC27A4	99.97	0
  SLC29A3	95.73	0
  SLC2A10	97.06	0
  SLC39A13	100.00	0
  SLC39A4	100.00	0
  SLC45A2	100.00	0
  SLC6A19	99.99	0
  SLURP1	100.00	0
  SMAD3	100.00	0
  SMARCAD1	99.97	0
  SMARCB1	100.00	0
  SMC3	100.00	0
  SMPD1	100.00	0
  SNAI2	100.00	0
  SNAP29	100.00	0
  SNRPE	99.04	0
  SOS1	100.00	0
  SOS2	99.97	0
  SOX10	97.31	0
  SPINK5	100.00	0
  SPRED1	100.00	0
  SPRY1	100.00	0
  SPTLC1	99.44	0
  SRD5A3	98.97	0
  ST14	99.95	0
  STK11	99.81	0
  STS	99.94	0
  SUFU	100.00	0
  SULT2B1	100.00	0
  SUMF1	100.00	0
  TAT	100.00	0
  TCHH	100.00	0
  TERT	93.51	0
  TFR2	100.00	0
  TGFB2	99.97	0
  TGFB3	100.00	0
  TGFBR1	91.97	0
  TGFBR2	100.00	0
  TGM1	100.00	0
  TGM3	100.00	0
  TGM5	100.00	0
  TINF2	99.96	0
  TMC6	99.87	0
  TNXB	100.00	0
  TP63	100.00	0
  TRPS1	100.00	0
  TRPV3	99.99	0
  TSC1	100.00	0
  TSC2	99.99	0
  SKIC3	99.99	0
  TUBB	100.00	0
  TWIST2	99.15	0
  TYR	100.00	0
  TYRP1	100.00	0
  UBR1	100.00	0
  USB1	100.00	0
  UVSSA	100.00	0
  VPS33B	100.00	0
  WDR19	100.00	0
  WDR35	100.00	0
  WNK1	100.00	0
  WNT10A	94.15	0
  WRAP53	100.00	0
  WRN	100.00	0
  XPA	97.89	0
  XPC	100.00	0
  ZMPSTE24	100.00	0
  ZNF469	99.97	0
  ZNF750	100.00	0
  TERC	100.00	0	t

• Skin disorders - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	99.88	1
  AAGAB	100.00	1
  ABCA12	99.94	1
  ABCB6	99.97	1
  ABHD5	99.98	1
  ADAM10	99.88	1
  ADAR	99.84	1
  ADGRE2	98.77	1
  ALDH3A2	99.95	1
  ALOX12B	100.00	1
  ALOXE3	99.98	1
  ALX4	100.00	1
  ANTXR1	99.83	1
  ANTXR2	99.67	1
  AP1S1	99.49	1
  AP3B1	99.89	1
  AP3D1	100.00	1
  APCDD1	99.99	1
  AQP5	99.88	1
  ARHGAP31	100.00	1
  ARSL	99.93	1
  ATP2A2	99.98	1
  ATP6V1B2	99.99	1
  ATP7A	99.87	1
  AXIN2	100.00	1
  BANF1	99.84	1
  BCS1L	99.99	1
  BLM	99.80	1
  BLOC1S3	100.00	1
  BLOC1S6	99.98	1
  BMS1	85.80	1
  BRAF	99.78	1
  C1QA	99.99	1
  C1QB	99.58	1
  C1QC	99.97	1
  C5	99.92	1
  CARD11	99.97	1
  CARD14	99.99	1
  CASP10	99.85	1
  CASP14	99.86	1
  CASP8	99.92	1
  CAST	99.94	1
  CBL	99.95	1
  CD151	100.00	1
  CDH1	99.98	1
  CDH3	99.98	1
  CDKN1B	100.00	1
  CDKN1C	100.00	1
  CDSN	99.94	1
  CERS3	99.85	1
  CHST8	100.00	1
  CHUK	99.83	1
  CLDN1	99.99	1
  CLDN10	99.97	1
  COG6	99.86	1
  COL17A1	99.98	1
  COL18A1	99.99	1
  COL7A1	99.99	1
  COX7B	99.86	1
  CYP11B1	100.00	1
  CSTB	99.99	1
  CSTA	99.83	1
  CTLA4	99.99	1
  CTSC	99.97	1
  CYLD	99.46	1
  CYP11A1	99.99	1
  CYP21A2	99.85	1
  CYP26C1	99.92	1
  CYP4F22	99.97	1
  DCAF17	99.84	1
  DCLRE1C	99.79	1
  DCPS	99.98	1
  DDB2	100.00	1
  DHCR24	99.93	1
  DIP2B	99.65	1
  DKC1	99.59	1
  DLL4	100.00	1
  DOCK6	100.00	1
  DOCK8	99.86	1
  DPH1	100.00	1
  DSC3	99.73	1
  DSG1	99.35	1
  DSG3	99.97	1
  DSG4	99.91	1
  DSP	100.00	1
  DST	99.52	1
  DSTYK	99.83	1
  DTNBP1	99.89	1
  GLB1	99.92	1
  EDA	99.44	1
  EDAR	99.89	1
  EDARADD	99.98	1
  EDN3	100.00	1
  EDNRA	99.97	1
  EDNRB	99.99	1
  ELOVL4	99.91	1
  ENPP1	99.88	1
  EOGT	99.09	1
  EPG5	99.95	1
  ERCC2	99.98	1
  ERCC3	99.90	1
  ERCC4	99.92	1
  ERCC5	99.99	1
  ERCC6	99.60	1
  ERCC8	99.79	1
  EVC	99.95	1
  EVC2	99.97	1
  EXPH5	99.81	1
  F12	99.99	1
  FAM111B	99.98	1
  FAS	99.99	1
  FASLG	99.84	1
  FECH	99.98	1
  FERMT1	99.90	1
  FGFR1	98.88	1
  FGFR3	100.00	1
  FOXN1	99.97	1
  FZD6	99.95	1
  GBA1	96.92	1
  GINS1	99.99	1
  GJA1	100.00	1
  GJB2	100.00	1
  GJB3	99.99	1
  GJB4	100.00	1
  GJB6	100.00	1
  GPR143	99.60	1
  GREM2	100.00	1
  GRHL2	100.00	1
  GRIN2B	99.99	1
  GTF2E2	100.00	1
  GTF2H5	100.00	1
  HCCS	99.90	1
  HOXC13	99.98	1
  HPGD	99.98	1
  HPS1	100.00	1
  HPS3	99.91	1
  HPS4	99.98	1
  HPS5	99.91	1
  HPS6	100.00	1
  HR	99.95	1
  HRAS	100.00	1
  HSPA9	99.96	1
  IFT122	99.98	1
  IFT43	99.97	1
  IKBKG	57.34	1
  IL2RA	99.99	1
  IL31RA	100.00	1
  ITGA3	99.86	1
  ITGA6	99.78	1
  ITGB4	99.99	1
  ITPR2	99.13	1
  JUP	99.94	1
  KCNH1	99.92	1
  KCTD1	99.99	1
  KDF1	99.86	1
  KDSR	99.99	1
  KEAP1	100.00	1
  KIT	99.86	1
  KITLG	99.46	1
  KLHL24	99.90	1
  KRAS	99.13	1
  KREMEN1	99.88	1
  KRT1	99.89	1
  KRT10	100.00	1
  KRT13	99.98	1
  KRT14	99.99	1
  KRT16	100.00	1
  KRT17	100.00	1
  KRT2	99.88	1
  KRT3	99.89	1
  KRT5	99.98	1
  KRT6A	100.00	1
  KRT6B	99.95	1
  KRT6C	96.59	1
  KRT7	99.87	1
  KRT74	99.92	1
  KRT83	100.00	1
  KRT85	99.97	1
  KRT9	100.00	1
  LAMA4	99.90	1
  LAMB3	99.99	1
  LAMC2	99.54	1
  LBR	99.66	1
  LIPH	99.99	1
  LIPN	99.94	1
  LMNA	99.96	1
  LMNB2	99.99	1
  LORICRIN	100.00	1
  LPAR6	99.99	1
  LRMDA	99.87	1
  LRP1	99.94	1
  LYST	99.87	1
  LZTR1	99.46	1
  MBTPS2	99.81	1
  MC1R	100.00	1
  MC2R	100.00	1
  MC4R	100.00	1
  MCM4	99.96	1
  MEN1	99.98	1
  MITF	99.98	1
  MLPH	100.00	1
  MMP1	99.99	1
  MPDU1	99.97	1
  MPLKIP	99.99	1
  MSX1	100.00	1
  MYO5A	99.94	1
  NECTIN1	99.99	1
  NECTIN4	99.97	1
  NF1	99.88	1
  NFKBIA	99.99	1
  NIPAL4	100.00	1
  NLRC4	99.95	1
  NLRP1	95.26	1
  NLRP12	99.99	1
  NLRP3	100.00	1
  NNT	99.87	1
  NOP10	99.99	1
  NOTCH1	99.98	1
  NR5A1	99.92	1
  NRAS	99.66	1
  NSDHL	99.87	1
  OCA2	99.60	1
  OSMR	99.95	1
  PADI3	99.35	1
  PAX3	100.00	1
  PAX6	99.95	1
  PDGFRB	99.99	1
  PEPD	99.98	1
  PEX7	99.72	1
  PGM3	99.94	1
  PHGDH	99.79	1
  PHYH	100.00	1
  PIEZO1	99.98	1
  PIGL	99.98	1
  PIGT	99.95	1
  PKP1	99.98	1
  PLCD1	99.98	1
  PLCG2	99.99	1
  PLEC	100.00	1
  PMVK	99.60	1
  PNPLA1	99.98	1
  PNPLA2	100.00	1
  PNPLA6	99.99	1
  POFUT1	100.00	1
  POGLUT1	99.99	1
  POLA1	99.57	1
  POLH	99.85	1
  POMC	99.99	1
  NT5C3A	99.95	1
  PORCN	99.93	1
  HCRT	99.85	1
  PRKCD	99.96	1
  PRKD1	99.96	1
  PSAT1	99.98	1
  PSENEN	100.00	1
  PSMB8	99.96	1
  PTCH1	99.99	1
  PTEN	99.89	1
  PTPN11	99.98	1
  PTPRF	99.92	1
  RAB27A	99.94	1
  RAD50	99.75	1
  RAF1	99.97	1
  RAG1	100.00	1
  RAG2	100.00	1
  RBM28	99.99	1
  RBPJ	99.96	1
  RECQL4	100.00	1
  RET	99.97	1
  RHBDF2	99.95	1
  RIN2	99.99	1
  RIT1	99.78	1
  RMRP	100.00	1
  RSPO1	99.99	1
  SCN9A	99.83	1
  SDR9C7	99.99	1
  SERPINB7	99.93	1
  SERPINB8	99.98	1
  SERPING1	100.00	1
  SGPL1	99.95	1
  SHOC2	99.96	1
  SLC24A5	99.99	1
  SLC27A4	100.00	1
  SLC29A3	99.98	1
  SLC39A4	100.00	1
  SLC45A2	100.00	1
  SLURP1	100.00	1
  SMARCA2	99.95	1
  SMARCAD1	99.86	1
  SNAI2	100.00	1
  SNAP29	99.85	1
  SNRPE	99.26	1
  SOS1	99.68	1
  SOS2	99.39	1
  SOX10	100.00	1
  SOX18	100.00	1
  SPINK5	99.91	1
  SPINT1	100.00	1
  SPRED1	99.99	1
  SRD5A3	99.94	1
  ST14	100.00	1
  ST3GAL5	99.96	1
  STAT3	99.97	1
  STIM1	99.99	1
  STK11	100.00	1
  STS	99.81	1
  SULT2B1	99.92	1
  SUMF1	99.95	1
  TAT	99.99	1
  TCHH	99.94	1
  TERC	98.59	1
  TGM1	99.82	1
  TGM3	100.00	1
  TGM5	100.00	1
  TINF2	100.00	1
  TP63	99.97	1
  TRPM1	99.96	1
  TRPS1	100.00	1
  TRPV3	99.90	1
  TWIST2	100.00	1
  TXNRD2	99.97	1
  TYRP1	99.97	1
  UBR1	99.93	1
  UROD	99.32	1
  UROS	100.00	1
  USB1	89.62	1
  VCX	96.04	1
  VCX3A	85.19	1
  WDR19	99.80	1
  WDR35	99.92	1
  WNT10A	100.00	1
  XPA	99.68	1
  XPC	99.98	1
  ZMPSTE24	98.70	1