GJD2

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Name:	gap junction protein delta 2
Symbol:	GJD2
Synonyms:	GJA9 CX36
XREF(s):	OMIM HGNC ORPHANET
Created:	06 Oct 2022 - 09:04
Changed:	06 Oct 2022 - 09:05

Related Genetic Tests

• Congenital structural heart defects (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