KIAA1217

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Name:	KIAA1217
Symbol:	KIAA1217
XREF(s):	OMIM HGNC
Created:	03 Jan 2023 - 13:02
Changed:	03 Jan 2023 - 13:02

Related Genetic Tests

• Skeletal dysplasia (gene panel)

Related Gene Panels

• Skeletal dysplasia - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	99.92	1
  ABL1	100.00	1
  ACAN	91.51	1
  ACP5	100.00	1
  ACVR1	99.94	1
  ADAMTS10	99.99	1
  ADAMTS17	99.99	1
  ADAMTSL2	99.99	1
  AFF4	99.94	1
  AGA	99.92	1
  AGPS	98.83	1
  AHDC1	100.00	1
  AKT1	100.00	1
  ALG12	100.00	1
  ALG3	99.96	1
  ALG9	99.73	1
  ALPL	99.88	1
  ALX1	97.99	1
  ALX3	99.74	1
  ALX4	100.00	1
  AMER1	100.00	1
  ANAPC1	75.83	1
  ANKH	99.95	1
  ANKRD11	99.85	1
  ANO5	99.85	1
  ANTXR2	99.67	1
  ARHGAP31	100.00	1
  ARID1A	99.83	1
  ARID1B	99.69	1
  SLURP1	99.99	1
  ARSL	99.93	1
  ASXL1	100.00	1
  ASXL2	99.82	1
  ATP6V0A2	99.92	1
  B3GALT6	100.00	1
  B3GAT3	87.74	1
  B3GLCT	99.90	1
  B4GALT7	99.99	1
  B9D1	99.80	1
  BBS1	100.00	1
  BBS10	99.98	1
  BBS12	100.00	1
  BBS2	99.90	1
  BBS4	99.88	1
  BBS5	99.00	1
  BBS7	99.42	1
  BBS9	99.75	1
  BHLHA9	100.00	1
  BMP1	99.94	1
  BMP2	99.79	1
  BMPER	99.94	1
  BMPR1B	99.61	1
  BPNT2	100.00	1
  C2CD3	99.88	1
  CA2	99.62	1
  CANT1	100.00	1
  CASR	99.99	1
  CC2D2A	99.95	1
  CCDC134	100.00	1
  CCDC8	100.00	1
  CCN6	99.89	1
  CCNQ	99.98	1
  CD96	99.91	1
  CDC45	99.77	1
  CDC6	99.85	1
  CDH3	99.98	1
  CDKN1C	100.00	1
  CDT1	100.00	1
  CEP120	99.90	1
  CEP290	98.10	1
  CFAP410	100.00	1
  CHD7	99.99	1
  CHST14	100.00	1
  CHST3	100.00	1
  CHSY1	99.99	1
  CILK1	99.69	1
  CKAP2L	99.54	1
  CLCN5	99.67	1
  CLCN7	99.99	1
  COG1	100.00	1
  COG4	99.96	1
  COL10A1	100.00	1
  COL11A1	90.72	1
  COL11A2	99.99	1
  COL1A1	99.90	1
  COL1A2	99.34	1
  COL2A1	99.87	1
  COL9A1	99.91	1
  COL9A2	98.76	1
  COL9A3	99.99	1
  COLEC11	100.00	1
  COMP	100.00	1
  CPLANE1	99.81	1
  CREB3L1	99.88	1
  CREBBP	99.97	1
  CRTAP	99.98	1
  CSF1R	99.92	1
  CSGALNACT1	100.00	1
  CSPP1	98.31	1
  CTSA	99.98	1
  CTSC	99.97	1
  CTSK	99.31	1
  CUL7	100.00	1
  CYP27B1	99.98	1
  CYP2R1	99.96	1
  DCC	99.96	1
  DDR2	99.58	1
  RIGI	99.84	1
  DDX59	99.67	1
  DHCR24	99.93	1
  DHCR7	99.97	1
  DHODH	99.99	1
  DIP2C	100.00	1
  DLL3	100.00	1
  DLL4	100.00	1
  DLX3	99.98	1
  DLX5	99.98	1
  DLX6	99.82	1
  DMP1	99.99	1
  DNMT3A	100.00	1
  DOCK6	100.00	1
  DPAGT1	100.00	1
  DPM1	90.68	1
  DSPP	99.99	1
  DVL1	100.00	1
  DVL3	99.99	1
  DYM	99.96	1
  DYNC2H1	99.66	1
  DYNC2I1	99.99	1
  DYNC2I2	99.98	1
  DYNC2LI1	99.94	1
  DYNLT2B	100.00	1
  GLB1	100.00	1
  EDNRA	99.97	1
  EFNA4	99.92	1
  EFNB1	99.95	1
  EFTUD2	99.93	1
  EIF2AK3	97.43	1
  EIF4A3	99.99	1
  ENPP1	99.88	1
  EOGT	99.09	1
  EP300	99.97	1
  ERCC4	99.92	1
  ERF	99.98	1
  ESCO2	99.92	1
  EVC	99.95	1
  EVC2	99.97	1
  EXT1	99.94	1
  EXT2	99.98	1
  EXTL3	99.99	1
  EZH2	99.89	1
  FAM111A	100.00	1
  FAM20C	100.00	1
  FBLN1	98.69	1
  FBN1	99.85	1
  FBN2	99.90	1
  FBXW4	99.31	1
  FERMT3	99.99	1
  FGF10	99.95	1
  FGF16	99.60	1
  FGF23	100.00	1
  FGF3	99.97	1
  FGF4	100.00	1
  FGF8	100.00	1
  FGF9	100.00	1
  FGFR1	100.00	1
  FGFR2	99.99	1
  FGFR3	100.00	1
  FIG4	99.83	1
  FKBP10	99.98	1
  FLNA	99.99	1
  FLNB	99.98	1
  FMN1	99.98	1
  FREM1	99.98	1
  FUCA1	98.72	1
  FZD2	99.98	1
  GALNS	99.98	1
  GALNT3	99.52	1
  GDF3	100.00	1
  GDF5	100.00	1
  GDF6	100.00	1
  GFER	100.00	1
  GJA1	100.00	1
  GLI3	100.00	1
  GNAS	100.00	1
  GNPAT	99.78	1
  GNPNAT1	99.99	1
  GNPTAB	99.76	1
  GNPTG	100.00	1
  GNS	99.59	1
  GORAB	99.59	1
  GPC6	99.98	1
  GPX4	100.00	1
  GREM1	100.00	1
  GUSB	95.07	1
  GZF1	100.00	1
  HDAC4	99.98	1
  HDAC8	99.74	1
  HES7	100.00	1
  HGSNAT	99.93	1
  HNRNPK	99.93	1
  HOXA11	99.99	1
  HOXA13	99.94	1
  HOXD13	99.98	1
  HPGD	99.98	1
  HS2ST1	95.79	1
  HSPG2	99.87	1
  IDH1	99.91	1
  IDH2	100.00	1
  IDS	99.82	1
  IDUA	99.99	1
  IFIH1	99.84	1
  IFITM5	100.00	1
  IFT122	99.98	1
  IFT140	100.00	1
  IFT172	99.98	1
  IFT43	99.97	1
  IFT52	99.82	1
  IFT80	99.69	1
  IFT81	94.64	1
  IHH	100.00	1
  IKBKG	57.34	1
  IL11RA	99.98	1
  IL1RN	99.64	1
  INPPL1	99.97	1
  KAT6B	99.79	1
  KDELR2	99.98	1
  KIAA0753	100.00	1
  KIAA1217	99.99	1
  KIF22	99.89	1
  KIF7	100.00	1
  KMT2D	99.98	1
  LBR	99.66	1
  LEMD3	99.07	1
  LFNG	100.00	1
  LIFR	99.69	1
  LMBR1	99.88	1
  LMNA	99.96	1
  LMX1B	100.00	1
  LONP1	99.99	1
  LPIN2	100.00	1
  CORIN	99.89	1
  LRP5	99.95	1
  LTBP2	99.97	1
  MAFB	100.00	1
  MAN2B1	99.99	1
  MAN2C1	99.96	1
  MAP3K7	99.33	1
  MASP1	99.99	1
  MATN3	99.97	1
  MBTPS2	99.81	1
  MEGF8	99.90	1
  MEOX1	99.99	1
  MESP2	99.99	1
  MGP	99.95	1
  MIA2	99.72	1
  MIA3	99.84	1
  MKKS	100.00	1
  MKS1	99.92	1
  MMP13	99.96	1
  MMP2	99.96	1
  MMP9	100.00	1
  MNX1	99.83	1
  MPDU1	99.97	1
  MSX2	100.00	1
  MTX2	99.20	1
  MYCN	100.00	1
  MYL11	99.85	1
  NAGLU	100.00	1
  NANS	100.00	1
  NBAS	99.86	1
  NEK1	99.83	1
  NEU1	99.98	1
  NF1	99.88	1
  NFIX	99.99	1
  NIPBL	99.34	1
  NKX3-2	99.99	1
  NLRP3	100.00	1
  NOG	100.00	1
  NOTCH1	99.98	1
  NOTCH2	99.03	1
  NPPC	100.00	1
  NPRL2	99.99	1
  NSD1	99.98	1
  NSDHL	99.87	1
  NXN	99.92	1
  OBSL1	100.00	1
  OFD1	99.68	1
  SLC25A15	99.70	1
  ORC4	99.70	1
  ORC6	99.82	1
  OSTM1	99.56	1
  P3H1	99.89	1
  P4HB	99.99	1
  PAM16	100.00	1
  PAN2	99.95	1
  PAPSS2	99.91	1
  PAX3	100.00	1
  PCNT	99.97	1
  PCYT1A	100.00	1
  PDE3A	99.97	1
  PDE4D	99.89	1
  PEX5	99.89	1
  PEX7	99.72	1
  PGM3	99.94	1
  PHEX	99.83	1
  PHGDH	99.79	1
  PIGT	99.95	1
  PIGV	100.00	1
  PIK3C2A	99.92	1
  PIK3CA	99.74	1
  PISD	100.00	1
  PITX1	100.00	1
  PLEKHM1	99.77	1
  PLOD2	99.66	1
  PLS3	99.75	1
  POC1A	99.98	1
  POLR1A	99.93	1
  POLR1C	100.00	1
  POLR1D	100.00	1
  BVES	99.94	1
  PORCN	99.98	1
  PPIB	100.00	1
  PRKAR1A	100.00	1
  PRKG2	99.75	1
  PRMT7	99.95	1
  PSAT1	99.98	1
  PSPH	99.09	1
  PTDSS1	99.95	1
  PTH1R	99.93	1
  PTHLH	99.89	1
  PTPN11	99.98	1
  PUF60	100.00	1
  PYCR1	99.99	1
  RAB23	99.97	1
  RAB33B	100.00	1
  RAD21	99.91	1
  RASGRP2	100.00	1
  RBM8A	99.37	1
  RBPJ	99.96	1
  RECQL4	100.00	1
  RFT1	99.79	1
  RIN1	100.00	1
  RNU4ATAC	99.95	1
  ROR2	99.99	1
  RPGRIP1L	96.35	1
  RPL13	99.96	1
  RUNX2	100.00	1
  SALL1	100.00	1
  SALL4	100.00	1
  SBDS	99.93	1
  SCARF2	99.94	1
  SCUBE3	99.96	1
  SEC24D	99.94	1
  SERPINF1	100.00	1
  SERPINH1	100.00	1
  SETD2	99.91	1
  SF3B4	99.65	1
  SFRP4	99.99	1
  SGSH	100.00	1
  SH3BP2	100.00	1
  SH3PXD2B	100.00	1
  SHH	100.00	1
  SHOX	92.70	1
  HHAT	99.98	1
  SLC10A7	99.95	1
  SLC17A5	99.71	1
  SLC26A2	100.00	1
  SLC29A3	99.98	1
  SLC34A1	99.99	1
  SLC34A3	100.00	1
  SLC35C1	100.00	1
  SLC35D1	87.50	1
  SLC39A13	99.98	1
  SLCO2A1	99.99	1
  SLCO5A1	99.98	1
  SMAD3	99.99	1
  SMAD4	99.97	1
  SMARCAL1	99.97	1
  SMC1A	99.98	1
  SMC3	99.91	1
  SMO	99.99	1
  SMOC1	100.00	1
  SNRPB	99.96	1
  SNX10	99.96	1
  SOST	100.00	1
  SOX9	100.00	1
  SP7	100.00	1
  SPARC	99.94	1
  SUCO	98.05	1
  SULF1	99.99	1
  SUMF1	99.95	1
  TALDO1	100.00	1
  TAPT1	99.64	1
  TBCE	99.91	1
  TBX15	99.81	1
  TBX3	100.00	1
  TBX4	99.96	1
  TBX5	99.98	1
  TBX6	99.99	1
  TBXAS1	100.00	1
  TCF12	99.97	1
  TCIRG1	99.99	1
  TCOF1	99.99	1
  TCTN2	99.99	1
  TCTN3	99.92	1
  TENT5A	99.97	1
  TERT	100.00	1
  TGFB1	100.00	1
  TGFB2	99.87	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  THPO	100.00	1
  TMEM165	99.97	1
  TMEM216	99.98	1
  TMEM231	88.88	1
  TMEM38B	99.95	1
  TMEM67	99.69	1
  TNFRSF11A	100.00	1
  TNFRSF11B	100.00	1
  TNFSF11	99.89	1
  TONSL	100.00	1
  TP63	99.97	1
  TRAPPC2	99.41	1
  TREM2	100.00	1
  TRIP11	99.90	1
  TRPS1	100.00	1
  TRPV4	100.00	1
  TRPV6	99.99	1
  TTC21B	99.50	1
  TTC8	99.67	1
  TWIST1	100.00	1
  TYROBP	99.95	1
  VDR	99.86	1
  VPS35L	99.07	1
  WDPCP	99.87	1
  WDR19	99.80	1
  WDR35	99.92	1
  WNT1	99.97	1
  WNT10B	99.97	1
  WNT3	99.99	1
  WNT3A	100.00	1
  WNT5A	100.00	1
  WNT7A	99.99	1
  XRCC4	99.89	1
  XYLT1	99.98	1
  XYLT2	99.97	1
  ZMPSTE24	98.70	1
  ZSWIM6	98.94	1