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
- CTGF 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
- FGF4 1
- FGF9 5
- FGFR1 5
- 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
- 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
- PTBP1 3
- 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
- RSPRY1 3
- 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
- SLC13A1 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
- VPS33A 2
- 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
- DROSHA 3
- EN1 2
- FBLN1 4
- FBXW4 3
- GNPNAT1 2
- H2AFY 2
- HDAC4 4
- HEATR3 2
- HNRNPK 3
- IDH1 5
- LRRC8C 1
- MANBA 2
- MBTPS2 3
- MIA3 3
- MIR17HG 6
- MMP9 4
- NMNAT1 2
- NRCAM 2
- PAM16 4
- PDIA6 2
- PFN1 2
- PLEKHM1 4
- RAD21 5
- SIK3 4
- SLC35B2 2
- SUCO 2
- TMEM251 3
- 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: EED Green List (high evidence)
EED (embryonic ectoderm development)
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 6 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Green List (high evidence)
Not listed in SD nosology paper. This is an overgrowth disorder with dysmorphic facial features, and skeletal abnormlaities including flaring of metaphyses of long bones, large hands with long fingers and camptyodactyly, scoliosis/cervical spine anomalies. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome 617561
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: EED; Initial rating suggestion: green if considered SDCreated: 6 Mar 2019, 11:36 a.m.
Created: 6 Mar 2019, 11:36 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. At least 4 variants reported in 4 unrelated casesCreated: 18 Sep 2017, 8:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome 617561
Publications
Created: 18 Sep 2017, 8:30 a.m.
Panel version: 1.62
Panel version: 1.62
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Cohen-Gibson syndrome 617561
- Cohen-Gibson syndrome 617561
- OMIM
- 605984
- Clinvar variants
- Variants in EED
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
6 May 2019, Gel status: 4
Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)Added phenotypes Cohen-Gibson syndrome 617561 for gene: EED Publications for gene EED were changed from 25787343; 27193220; 27868325; 28229514 to 25787343; 27193220; 27868325; 28229514
6 Mar 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to EED. Rating Changed from Green List (high evidence) to Green List (high evidence)
18 Sep 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).
18 Sep 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).
18 Sep 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)EED was added to Unexplained skeletal dysplasiapanel. Sources: Literature
18 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)EED was created by sleigh