Genes in panel
- ACTB 1
- ACTG1 1
- ALX1 3
- AMER1 1
- AMOTL1 6
- ANKRD11 2
- ARHGAP29 3
- ARHGAP31 1
- ASXL1 2
- B3GLCT 2
- BCOR 1
- BMP2 2
- C2CD3 1
- C5orf42 2
- CC2D2A 1
- CDH1 2
- CDKN1C 2
- CHD7 1
- CHRNG 1
- CHST14 1
- CNTNAP1 2
- COL11A1 4
- COL11A2 4
- COL2A1 5
- COL9A1 2
- COLEC10 1
- COLEC11 1
- CTCF 1
- CTGF 2
- CTNND1 2
- DHCR7 1
- DHODH 1
- DLL4 1
- DOCK6 1
- DVL1 1
- DVL3 1
- DYNC2H1 1
- DYNC2LI1 1
- EBP 1
- EDNRA 1
- EFNB1 1
- EFTUD2 1
- EIF2S3 1
- EIF4A3 1
- EOGT 1
- EPG5 1
- ESCO2 3
- EYA1 1
- FAM20C 1
- FGD1 1
- FGFR1 2
- FGFR2 1
- FLNA 4
- FLNB 2
- FOXC2 1
- FRAS1 1
- GDF11 3
- GJA1 1
- GLI2 2
- GLI3 1
- GPC3 1
- GRHL3 1
- HDAC8 1
- HNRNPK 2
- HYAL2 3
- HYLS1 1
- ICK 2
- IFT140 1
- IFT172 1
- IFT80 1
- IMPAD1 2
- IRF6 3
- KAT6A 1
- KAT6B 3
- KCNJ2 1
- KDM6A 2
- KIAA0586 1
- KIF1BP 3
- KIF7 1
- KMT2D 2
- MAP3K7 1
- MAPRE2 2
- MASP1 1
- MBTPS2 1
- MED12 4
- MED16 1
- MED25 3
- MEIS2 2
- MID1 1
- MKS1 1
- MSX1 2
- MYMK 1
- NECTIN1 3
- NEDD4L 2
- NEK1 1
- NIPBL 1
- NOTCH1 1
- OFD1 1
- PAX3 1
- PGAP3 2
- PGM1 2
- PHF8 1
- PIEZO2 1
- PIGN 1
- PIGV 1
- PLCB4 3
- POLR1B 1
- POLR1C 1
- POLR1D 3
- PORCN 1
- PTCH1 1
- RAD21 2
- RBM10 1
- ROR2 1
- RPL5 1
- RPS26 1
- SALL4 1
- SATB2 3
- SCARF2 1
- SF3B2 3
- SF3B4 1
- SHH 1
- SIX1 1
- SIX3 1
- SKI 1
- SLC26A2 3
- SMAD3 1
- SMAD4 1
- SMARCA4 2
- SMC1A 1
- SMC3 1
- SMS 1
- SNRPB 1
- SON 1
- SOX9 4
- SPECC1L 3
- STAG2 2
- STAMBP 1
- TBX1 3
- TBX22 3
- TCOF1 1
- TCTN3 1
- TELO2 1
- TFAP2A 1
- TGDS 1
- TGFB3 2
- TGFBR1 1
- TGFBR2 2
- TMCO1 1
- TP63 3
- TRAPPC9 1
- TRIM37 1
- TRRAP 2
- TUBB 1
- TXNL4A 1
- USP9X 1
- WNT5A 1
- XYLT1 2
- ZC4H2 2
- ZEB2 1
- ZIC2 1
- ZIC3 1
- ZSWIM6 1
- ALX3 1
- ARID1A 1
- ARID1B 1
- ATR 2
- AUTS2 1
- B3GALT6 1
- B4GALT7 2
- BUB1B 1
- CDC45 1
- CHD4 1
- COL9A2 3
- DDX3X 3
- DDX59 1
- DLX4 3
- ECEL1 1
- ESRP2 1
- FBXO11 2
- FGFR3 1
- FOXP2 1
- FTO 1
- GATA3 1
- GNB1 2
- IFT52 1
- KAT5 2
- KDM1A 3
- KMT2A 1
- LMNA 1
- LRRC32 1
- MED13L 2
- MEOX1 1
- NEB 1
- NOTCH2 1
- PHGDH 3
- PLEKHA7 1
- POGZ 1
- POLR1A 1
- PRKCI 1
- RARB 1
- RBPJ 2
- RERE 1
- RPS28 1
- RYR1 1
- SCUBE3 4
- SEC23A 1
- SEPT9 5
- SMARCB1 1
- SMG9 1
- TBL1XR1 1
- TBX15 1
- TRAF7 1
- TTC21B 1
- UBE3B 1
- WDR19 1
- WDR34 2
- WDR35 1
- WDR60 2
- ZBTB24 1
- ZMPSTE24 1
- ACBD5 2
- ADNP 1
- ALG9 1
- ARCN1 1
- ATRX 1
- B3GAT3 1
- BMP4 3
- CANT1 1
- CASK 1
- CDK13 1
- CDKL5 1
- CHD1 1
- CHD3 1
- CHSY1 1
- CKAP2L 1
- COL9A3 0
- CSNK2A1 1
- DIS3L2 1
- DLG1 1
- DNMT3B 1
- EDN1 0
- EP300 1
- FAM111A 1
- FANCL 1
- FOXE1 0
- FREM2 1
- GATA6 1
- GDF1 1
- GMNN 1
- GNAI3 0
- GRIP1 1
- GYPE 2
- HOXA2 2
- INTS1 0
- KANSL1 1
- KIF22 1
- LMX1B 1
- MAGEL2 1
- METTL23 1
- MYCN 1
- NBN 1
- NKX2-5 1
- NKX2-6 1
- NSDHL 1
- PGAP2 1
- PIGA 1
- PIGL 1
- PIK3R2 1
- PLEKHA5 1
- POLA1 1
- POLR2A 1
- POMT1 1
- POMT2 1
- PQBP1 1
- PSAT1 1
- PTDSS1 3
- PUF60 1
- RAI1 1
- RBM8A 1
- RPL11 0
- RPS17 1
- RPS19 1
- RSPO2 0
- SELENOI 0
- SIN3A 1
- SIX5 3
- SMAD2 1
- SMOC1 1
- SOX11 1
- SOX2 1
- SOX5 1
- STIL 1
- STRA6 1
- STXBP1 1
- SUMO1 3
- TCF12 1
- TFAP2B 0
- TGFB2 1
- TSR2 0
- TWIST2 1
- UBB 1
- UQCC2 1
- VAX1 1
- WASHC5 2
- WDR26 1
- WNT3 1
- YAP1 1
- FSHMD1A 3
STRs in panel
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Regions in panel
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-
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
ISCA-37393-Gain 1 -
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 1 -
7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
ISCA-37467-Gain 1 -
SOX9 upstream enhancer region Loss
ISCA-46303-Loss 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 1
Clefting
Gene: TFAP2B Red List (low evidence)
TFAP2B (transcription factor AP-2 beta)
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000008196
EnsemblGeneIds (GRCh37): ENSG00000008196
OMIM: 601601, Gene2Phenotype
TFAP2B is in 6 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cleft lip
- OMIM
- 601601
- Clinvar variants
- Variants in TFAP2B
- Penetrance
- None
- Panels with this gene
History Filter Activity
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TFAP2B was added to Clefting panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)TFAP2B was created by Ellen McDonagh