- Panels
- Skeletal dysplasia
- PIN1
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
Prev
Next
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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: PIN1 Red List (low evidence)
PIN1 (peptidylprolyl cis/trans isomerase, NIMA-interacting 1)
EnsemblGeneIds (GRCh38): ENSG00000127445
EnsemblGeneIds (GRCh37): ENSG00000127445
OMIM: 601052, Gene2Phenotype
PIN1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000127445
EnsemblGeneIds (GRCh37): ENSG00000127445
OMIM: 601052, Gene2Phenotype
PIN1 is in 1 panel
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Not associated with phenotype in OMIM and G2P. No variants reportedCreated: 29 Jul 2016, 12:24 p.m.
Created: 29 Jul 2016, 12:24 p.m.
Panel version: 0.1070
Panel version: 0.1070
Ana Beleza (Bristol Regional Genetics Service)
Green List (high evidence)
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
Unknown
Phenotypes
Restelli M et al. DLX5, FGF8 and the Pin1 isomerase control ?Np63? protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. Hum Mol Genet. 2014 Jul 15, 23(14):3830-42.
Variants in this GENE are reported as part of current diagnostic practice
Created: 17 Jun 2016, 8:07 a.m.
Panel version: 0.4
Panel version: 0.4
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- No phenotype associated with this gene
- OMIM
- 601052
- Clinvar variants
- Variants in PIN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
9 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
29 Jul 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
29 Jul 2016, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PIN1 were set to No phenotype associated with this gene
29 Jul 2016, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for PIN1 were set to 24569166
29 Jul 2016, Gel status: 0
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PIN1 was changed to Unknown
29 Jul 2016, Gel status: 0
Upload gene information
Sarah Leigh (Genomics England Curator)PIN1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
18 May 2016, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)PIN1 was added to Unexplained skeletal dysplasiapanel. Sources:
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PIN1 was created by sleigh