Genes in panel
- ABCC9 4
- ACAN 4
- ACP5 4
- ACVR1 4
- ADAMTS10 2
- ADAMTS17 2
- ADAMTSL2 4
- AFF3 4
- AGA 4
- AGPS 4
- ALG12 4
- ALG3 4
- ALG9 4
- ALPL 4
- ALX1 4
- ALX3 4
- ALX4 4
- AMER1 4
- ANAPC1 3
- ANKH 4
- ANKRD11 4
- ANO5 5
- ANTXR2 4
- ARCN1 3
- ARHGAP31 4
- ARL6 1
- ARSB 4
- ARSE 5
- ARSK 3
- ASXL1 5
- ASXL2 3
- ATP6V0A2 4
- ATP7A 4
- AXIN1 2
- B3GALT6 4
- B3GAT3 4
- B3GLCT 1
- B4GALT7 4
- BBS1 1
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BGN 2
- BHLHA9 4
- BMP1 4
- BMP2 5
- BMPER 4
- BMPR1B 4
- C21orf2 5
- C2CD3 4
- CA2 4
- CANT1 4
- CASR 4
- CBFB 3
- CC2D2A 4
- CCDC8 5
- CDC45 4
- CDH3 4
- CDKN1C 4
- CDT1 4
- CEP120 4
- CEP290 4
- CHST14 4
- CHST3 4
- CHSY1 4
- CLCN5 4
- CLCN7 4
- COG1 4
- COG4 3
- COL10A1 4
- COL11A1 4
- COL11A2 5
- COL1A1 4
- COL1A2 4
- COL27A1 1
- COL2A1 4
- COL9A1 5
- COL9A2 4
- COL9A3 4
- COLEC11 4
- COMP 4
- COPB2 3
- CREB3L1 4
- CREBBP 3
- CRTAP 4
- CSGALNACT1 3
- CSPP1 3
- CTSA 4
- CTSC 4
- CTSK 5
- CUL7 4
- CYP27B1 4
- CYP2R1 1
- DCC 4
- DDR2 4
- DDRGK1 2
- DHCR24 4
- DHCR7 1
- DHODH 4
- DIS3L2 4
- DLL3 4
- DLL4 3
- DLX3 4
- DLX5 5
- DMP1 4
- DNMT3A 4
- DOCK6 4
- DPAGT1 1
- DPM1 4
- DVL1 4
- DVL2 2
- DVL3 3
- DYM 4
- DYNC2H1 4
- DYNC2LI1 3
- EBP 3
- EED 3
- EFTUD2 4
- EIF2AK3 4
- ENPP1 4
- EOGT 4
- ERF 4
- ERI1 2
- ESCO2 4
- EVC 4
- EVC2 5
- EXOC6B 1
- EXT1 4
- EXT2 4
- EXTL3 3
- EZH2 4
- FAM111A 5
- FAM20C 4
- FAM46A 2
- FAM58A 5
- FBN1 4
- FBN2 4
- FBXW11 5
- FERMT3 4
- FGF10 4
- FGF16 4
- FGF23 4
- FGF9 5
- FGFR1 4
- FGFR2 5
- FGFR3 5
- FIG4 4
- FKBP10 4
- FLNA 5
- FLNB 4
- FN1 2
- FUCA1 4
- FZD2 4
- GALNS 4
- GALNT3 4
- GDF5 4
- GDF6 4
- GHR 3
- GJA1 4
- GLB1 4
- GLI3 5
- GNAS 5
- GNPAT 3
- GNPTAB 4
- GNPTG 4
- GNS 4
- GORAB 4
- GPC6 4
- GPX4 6
- GSC 4
- GUSB 4
- GZF1 4
- HDAC8 4
- HES7 4
- HGSNAT 4
- HHAT 2
- HOXA13 4
- HOXD13 4
- HPGD 4
- HS2ST1 3
- HSPG2 4
- ICK 4
- IDH1 4
- IDS 4
- IDUA 4
- IFIH1 2
- IFITM5 3
- IFT122 4
- IFT140 3
- IFT172 4
- IFT43 3
- IFT52 3
- IFT80 4
- IFT81 3
- IHH 4
- IKBKG 4
- IL11RA 4
- IL1RN 4
- IMPAD1 5
- INPPL1 4
- KAT6B 2
- KDELR2 2
- KIAA0753 1
- KIF22 4
- KIF24 2
- KIF5B 1
- KIF7 4
- KMT2D 2
- LBR 4
- LEMD3 4
- LFNG 5
- LIFR 4
- LMBR1 4
- LMNA 4
- LMX1B 4
- LONP1 4
- LPIN2 4
- LRP4 4
- LRP5 3
- LRRK1 2
- LTBP1 2
- LTBP3 3
- MAFB 4
- MAN2B1 4
- MAP3K7 3
- MASP1 2
- MATN3 4
- MBTPS1 2
- MEGF8 4
- MEOX1 4
- MESD 3
- MESP2 4
- MGP 5
- MKKS 1
- MKS1 4
- MMP13 4
- MMP2 4
- MNX1 4
- MPDU1 4
- MSX2 4
- MTX2 2
- MYCN 4
- MYH3 2
- MYO18B 3
- NAGLU 4
- NANS 3
- NBAS 1
- NEK1 4
- NEPRO 3
- NEU1 4
- NF1 4
- NFIX 4
- NIPBL 4
- NKX3-2 4
- NLRP3 4
- NOG 4
- NOTCH1 2
- NOTCH2 4
- NPR2 5
- NPR3 2
- NSD1 4
- NSDHL 5
- NT5E 3
- NXN 4
- OBSL1 4
- OFD1 5
- ORC1 4
- ORC4 4
- ORC6 4
- OSTM1 4
- P3H1 4
- P4HB 3
- PAPSS2 4
- PAX3 1
- PCNT 4
- PCYT1A 4
- PDE3A 3
- PDE4D 4
- PEX5 4
- PEX7 3
- PGM3 4
- PHEX 4
- PHGDH 4
- PIGT 4
- PIGV 4
- PIK3C2A 1
- PIK3R1 4
- PISD 2
- PITX1 4
- PKDCC 5
- PLOD2 4
- PLS3 3
- POC1A 4
- POLR1A 4
- POLR1B 3
- POLR1C 4
- POLR1D 4
- POP1 5
- POR 4
- PPIB 4
- PRKAR1A 4
- PRKG2 3
- PRMT7 3
- PSAT1 4
- PSMC3 1
- PSPH 4
- PTDSS1 4
- PTH1R 4
- PTHLH 4
- PTPN11 4
- PUF60 3
- PYCR1 4
- RAB23 4
- RAB33B 4
- RASGRP2 4
- RBM8A 4
- RBPJ 5
- RECQL4 4
- RFT1 4
- RINT1 2
- RIPPLY2 4
- RMRP 5
- RNU4ATAC 5
- ROR2 4
- RPGRIP1L 4
- RPL13 2
- RUNX2 4
- SALL1 4
- SALL4 4
- SBDS 4
- SCARF2 4
- SCUBE3 4
- SEC24D 3
- SERPINF1 3
- SERPINH1 4
- SETD2 4
- SETD5 2
- SF3B4 4
- SFRP4 3
- SGMS2 2
- SGSH 4
- SH3BP2 4
- SH3PXD2B 4
- SHOX 4
- SKI 4
- SLC10A7 2
- SLC17A5 4
- SLC26A2 4
- SLC29A3 4
- SLC34A1 1
- SLC34A3 4
- SLC35C1 1
- SLC35D1 4
- SLC39A13 4
- SLCO2A1 6
- SMAD3 4
- SMAD4 4
- SMAD6 3
- SMARCAL1 4
- SMC1A 4
- SMC3 4
- SMOC1 2
- SNRPB 5
- SNX10 4
- SOST 4
- SOX9 4
- SP7 4
- SPARC 3
- STT3A 3
- SUMF1 4
- TALDO1 4
- TAPT1 2
- TBCE 4
- TBX15 4
- TBX3 4
- TBX4 4
- TBX5 4
- TBX6 4
- TBXAS1 4
- TCIRG1 4
- TCOF1 5
- TCTEX1D2 4
- TCTN2 4
- TCTN3 4
- TERT 4
- TGFB1 4
- TGFB2 4
- TGFBR2 4
- TMCO1 4
- TMEM165 4
- TMEM216 4
- TMEM231 4
- TMEM38B 3
- TNFRSF11A 5
- TNFRSF11B 4
- TNFSF11 4
- TOMM7 3
- TONSL 2
- TP63 4
- TRAPPC2 4
- TREM2 4
- TRIP11 4
- TRPS1 4
- TRPV4 4
- TRPV6 1
- TTC21B 3
- TTC8 1
- TWIST1 4
- TYROBP 4
- UBA2 4
- UFSP2 3
- UNC45A 3
- VDR 1
- WBP11 1
- WDPCP 1
- WDR19 3
- WDR34 5
- WDR35 3
- WDR60 5
- WISP3 5
- WNT1 3
- WNT10B 4
- WNT5A 4
- WNT7A 4
- XRCC4 4
- XYLT1 4
- XYLT2 4
- YY1 3
- ZMPSTE24 4
- ZNF687 2
- ZSWIM6 1
- ABL1 3
- B9D1 4
- BTRC 1
- C16orf62 2
- CSNK1G1 2
- CTGF 2
- DROSHA 3
- EN1 2
- FBLN1 4
- FBXW4 3
- FGF4 1
- GNPNAT1 2
- H2AFY 2
- HDAC4 4
- HEATR3 2
- HNRNPK 3
- LRRC8C 1
- MANBA 2
- MBTPS2 3
- MIA3 3
- MIR17HG 6
- MMP9 4
- NMNAT1 2
- NRCAM 2
- PAM16 4
- PDIA6 2
- PFN1 2
- PLEKHM1 4
- PTBP1 2
- RAD21 5
- RSPRY1 2
- SIK3 4
- SLC13A1 1
- SLC35B2 2
- SUCO 2
- TMEM251 3
- VPS33A 1
- ACVR2B 1
- ADGRV1 0
- ADI1 0
- AHI1 0
- AIPL1 0
- AKT1 4
- ARID1A 0
- ARID1B 2
- ARL13B 0
- ATXN10 2
- B9D2 2
- BANF1 2
- C2orf71 1
- C5orf42 1
- CCDC28B 1
- CCDC39 0
- CCDC40 0
- CD96 2
- CDC6 2
- CDH23 0
- CEP164 0
- CEP41 0
- CFTR 0
- CKAP2L 2
- CLRN1 0
- COL12A1 0
- COL5A1 0
- COLEC10 2
- CRB1 0
- CRELD1 0
- CRX 0
- CYP26B1 0
- DACT1 1
- DLX6 4
- DNAAF1 0
- DNAAF2 0
- DNAAF3 0
- DNAH11 0
- DNAH5 0
- DNAI1 0
- DNAI2 0
- DNAL1 0
- DOLPP1 2
- DPM2 2
- DPM3 2
- DSPP 2
- EP300 2
- ESR1 0
- ETF1 2
- FBLIM1 2
- FGF8 2
- FMN1 2
- FOXC1 3
- FOXH1 0
- GDF1 0
- GDF3 3
- GLIS2 0
- GREM1 3
- GUCY2D 0
- HDAC5 2
- HOXA11 4
- HOXD11 2
- HYLS1 0
- IDH2 5
- IFT88 2
- IMPDH1 0
- INVS 0
- IQCB1 0
- KCNJ13 0
- KIAA1217 2
- LCA5 0
- LEFTY2 0
- LOXL3 1
- LRAT 0
- LRP6 0
- LTBP2 2
- MAN2C1 2
- MCM5 1
- MMP14 2
- MTAP 2
- MYO1H 2
- MYO7A 0
- NEK8 0
- NIN 5
- NKX2-5 0
- NME8 0
- NODAL 0
- NPHP1 0
- NPHP3 2
- NPHP4 0
- NPPC 2
- OAT 2
- PCDH15 0
- PHF6 0
- PIK3CA 2
- PIN1 2
- PIR 1
- PKD2 0
- PKHD1 0
- PLCB3 2
- PLK4 0
- PLOD1 0
- PTPRQ 0
- RAB3GAP2 0
- RD3 0
- RDH12 0
- RPE65 0
- RPGR 0
- RPGRIP1 0
- RSPH4A 0
- RSPH9 0
- SCNN1A 0
- SCNN1B 0
- SCNN1G 0
- SDCCAG8 1
- SEM1 3
- SHH 2
- SLCO5A1 4
- SMARCA2 0
- SMARCA4 0
- SMARCB1 0
- SMARCE1 0
- SOX11 0
- SPATA7 0
- SPECC1L 2
- SULF1 4
- TCTN1 0
- TDP2 0
- TGDS 2
- THPO 4
- TMEM138 0
- TMEM237 0
- TMEM67 4
- TNXB 0
- TOPORS 0
- TP53 2
- TRIM32 1
- TRMT10A 0
- TSC1 0
- TSC2 0
- TULP1 0
- UMOD 0
- USH1C 0
- USH1G 0
- USH2A 0
- USP9X 1
- VAC14 1
- VHL 0
- WHRN 1
- WNT3 4
- WRN 2
- XPNPEP3 0
- ZBTB16 2
- ZIC3 0
- ZNF423 0
- EFNB1 5
- IGF1R 2
- KAT6A 3
- TCF12 5
- TGFBR1 4
- TWIST2 4
- ZIC1 5
Regions in panel
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-
2q37.3 terminal region (includes HDAC4) Loss
ISCA-37394-Loss 2 -
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss 2 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37418-Loss 2 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 2 -
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss 1 -
DLK1-MEG3 Intergenic Region Loss
ISCA-37447-Loss 1 -
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-37501-Loss 2
Skeletal dysplasia
Gene: YY1 Green List (high evidence)
YY1 (YY1 transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000100811
EnsemblGeneIds (GRCh37): ENSG00000100811
OMIM: 600013, Gene2Phenotype
YY1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000100811
EnsemblGeneIds (GRCh37): ENSG00000100811
OMIM: 600013, Gene2Phenotype
YY1 is in 8 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Green List (high evidence)
mild intrauterine growth retardation, dysmorphic facies, distal skeletal abnormalities, green - multiple reports; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gabriele-de Vries syndrome 617557
Publications
Created: 6 Mar 2019, 11:44 a.m.
Panel version: 1.147
Panel version: 1.147
Eleanor Williams (Genomics England Curator)
I don't know
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: YY1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:37 a.m.
Created: 6 Mar 2019, 11:37 a.m.
Panel version: 1.146
Panel version: 1.146
Sarah Leigh (Genomics England Curator)
Green List (high evidence)
Associated with phenotype in OMIM and as a probable G2P for intellectual disability. At least 5 variants reported in unrelated cases.Created: 22 Aug 2017, 9:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gabriele-de Vries syndrome 617557
Publications
Created: 22 Aug 2017, 9:16 a.m.
Panel version: 1.57
Panel version: 1.57
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Gabriele-de Vries syndrome 617557
- Gabriele-de Vries syndrome 617557
- OMIM
- 600013
- Clinvar variants
- Variants in YY1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
6 May 2019, Gel status: 4
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
6 Mar 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to YY1. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Aug 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)YY1 was added to Unexplained skeletal dysplasiapanel. Sources: Literature
22 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)YY1 was created by sleigh