- Panels
- Skeletal dysplasia
- GINS3
Genes in panel
- ABCC9 1
- ABL1 2
- ACAN 1
- ACP5 1
- ACVR1 2
- ADAMTS10 1
- ADAMTS17 1
- ADAMTSL2 1
- AFF3 1
- AFF4 2
- AGA 1
- AGPS 1
- ALG12 1
- ALG3 1
- ALG9 1
- ALPL 3
- ALX1 1
- ALX3 1
- ALX4 1
- AMER1 1
- ANKH 1
- ANKRD11 1
- ANO5 1
- ANTXR2 1
- ARHGAP31 2
- ARID1A 2
- ARID1B 2
- ARL6 1
- ARSB 1
- ARSE 1
- ARSK 1
- ASXL1 1
- ASXL2 1
- ATP6V0A2 1
- ATP7A 3
- AXIN1 2
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALT7 2
- BBS1 2
- BBS10 1
- BBS12 2
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BGN 1
- BHLHA9 1
- BMP1 1
- BMP2 1
- BMPER 1
- BMPR1B 2
- C21orf2 1
- C2CD3 2
- CA2 2
- CANT1 1
- CASR 1
- CBFB 1
- CC2D2A 2
- CCDC8 1
- CDC45 1
- CDH3 1
- CDKN1C 1
- CDT1 1
- CEP120 1
- CEP290 1
- CHST14 1
- CHST3 1
- CHSY1 1
- CLCN5 1
- CLCN7 1
- COG1 1
- COG4 2
- COL10A1 2
- COL11A1 1
- COL11A2 1
- COL1A1 1
- COL1A2 1
- COL27A1 2
- COL2A1 1
- COL9A1 1
- COL9A2 1
- COL9A3 3
- COLEC11 1
- COMP 1
- CREB3L1 1
- CREBBP 1
- CRTAP 1
- CSGALNACT1 1
- CSPP1 1
- CTSA 1
- CTSC 2
- CTSK 1
- CUL7 1
- CYP26B1 1
- CYP27B1 1
- CYP2R1 1
- DCC 3
- DDR2 1
- DDRGK1 2
- DHCR24 2
- DHCR7 4
- DHODH 2
- DIS3L2 1
- DLL3 1
- DLL4 1
- DLX3 1
- DLX5 1
- DMP1 1
- DNAJC21 1
- DNMT3A 2
- DOCK6 1
- DONSON 1
- DPAGT1 1
- DPM1 1
- DSPP 1
- DVL1 2
- DVL3 1
- DYM 1
- DYNC2H1 1
- DYNC2LI1 2
- EBP 2
- EED 1
- EFL1 1
- EFTUD2 2
- EIF2AK3 1
- EN1 1
- ENPP1 1
- EOGT 1
- ERF 1
- ERI1 2
- ESCO2 1
- EVC 3
- EVC2 2
- EXOC6B 1
- EXT1 1
- EXT2 1
- EXTL3 1
- EZH2 2
- FAM111A 1
- FAM20C 1
- FAM46A 1
- FAM58A 1
- FBN1 0
- FBN2 2
- FERMT3 1
- FGF10 1
- FGF16 1
- FGF23 1
- FGF9 2
- FGFR1 2
- FGFR2 1
- FGFR3 1
- FIG4 0
- FKBP10 1
- FLNA 1
- FLNB 2
- FN1 1
- FUCA1 1
- FUZ 1
- FZD2 1
- GALNS 1
- GALNT3 1
- GDF5 3
- GDF6 3
- GHR 1
- GINS3 1
- GJA1 1
- GLB1 1
- GLI3 3
- GNAS 1
- GNPAT 1
- GNPTAB 2
- GNPTG 1
- GNS 1
- GORAB 1
- GPC6 3
- GPX4 1
- GSC 1
- GUSB 1
- GZF1 1
- HDAC8 1
- HES7 1
- HGSNAT 2
- HHAT 2
- HOXA13 1
- HOXD13 1
- HPGD 1
- HSPG2 3
- ICK 1
- IDH1 1
- IDS 1
- IDUA 2
- IFIH1 3
- IFITM5 2
- IFT122 1
- IFT140 2
- IFT172 2
- IFT43 1
- IFT52 1
- IFT74 1
- IFT80 1
- IHH 1
- IKBKG 1
- IL11RA 1
- IL1RN 1
- IMPAD1 1
- INPPL1 2
- KAT6B 1
- KCNJ2 1
- KIAA0586 1
- KIAA0753 2
- KIF22 2
- KIF5B 2
- KIF7 1
- KMT2D 1
- LBR 2
- LEMD3 1
- LFNG 1
- LIFR 2
- LMBR1 1
- LMNA 0
- LMX1B 2
- LONP1 1
- LPIN2 1
- LRP4 2
- LRP5 1
- LRRK1 1
- LTBP3 1
- MAB21L2 1
- MAFB 2
- MAN2B1 1
- MAP3K7 1
- MASP1 1
- MATN3 1
- MBTPS1 1
- MECOM 2
- MEGF8 1
- MEOX1 2
- MESD 1
- MESP2 1
- MGP 2
- MIR140 2
- MIR17HG 1
- MKKS 3
- MKS1 1
- MMP13 1
- MMP2 1
- MMP9 1
- MNX1 1
- MPDU1 1
- MSX2 1
- MTX2 1
- MYCN 2
- NAGLU 2
- NANS 1
- NBAS 1
- NEK1 2
- NEPRO 3
- NEU1 1
- NF1 1
- NFIX 1
- NIPBL 1
- NKX3-2 1
- NLRP3 1
- NOG 1
- NOTCH1 2
- NOTCH2 1
- NPR2 1
- NSD1 1
- NSDHL 2
- OBSL1 1
- OFD1 2
- ORC1 1
- ORC4 1
- ORC6 1
- OSTM1 1
- P3H1 1
- P4HB 1
- PAM16 1
- PAPSS2 1
- PAX3 1
- PCNT 1
- PCYT1A 1
- PDE3A 1
- PDE4D 2
- PEX5 1
- PEX7 1
- PGM3 1
- PHEX 1
- PHF6 1
- PHGDH 1
- PIGT 1
- PIGV 1
- PIK3C2A 2
- PIK3R1 2
- PISD 2
- PITX1 1
- PKDCC 3
- PLOD2 1
- PLS3 1
- POC1A 1
- POLR1A 2
- POLR1B 2
- POLR1C 1
- POLR1D 1
- POP1 1
- POR 2
- PPIB 1
- PRKAR1A 1
- PRKG2 2
- PRMT7 1
- PSAT1 2
- PSPH 1
- PTDSS1 1
- PTH1R 1
- PTHLH 1
- PTPN11 1
- PUF60 1
- PYCR1 3
- RAB23 1
- RAB33B 1
- RAB34 1
- RAB3GAP2 1
- RASGRP2 1
- RBM8A 1
- RBPJ 1
- RECQL4 1
- RFT1 1
- RIPPLY2 1
- RMRP 2
- RNU4ATAC 2
- ROR2 1
- RPGRIP1L 1
- RPL13 1
- RUNX2 1
- SALL1 1
- SALL4 2
- SBDS 1
- SCARF2 1
- SCUBE3 1
- SEC24D 1
- SEMA3A 2
- SERPINF1 1
- SERPINH1 1
- SETD2 2
- SF3B4 1
- SFRP4 2
- SGSH 1
- SH3BP2 2
- SH3PXD2B 1
- SHOX 1
- SKI 2
- SLC10A7 1
- SLC17A5 2
- SLC26A2 1
- SLC29A3 1
- SLC34A1 1
- SLC34A3 1
- SLC35C1 1
- SLC35D1 2
- SLC39A13 1
- SLCO2A1 1
- SMAD3 0
- SMAD4 1
- SMAD6 2
- SMARCAL1 1
- SMARCB1 1
- SMARCE1 1
- SMC1A 2
- SMC3 1
- SMOC1 1
- SNRPB 1
- SNX10 1
- SOST 1
- SOX11 2
- SOX9 1
- SP7 1
- SPARC 1
- SRP54 1
- STT3A 1
- SUMF1 1
- TAB2 1
- TALDO1 1
- TBCE 1
- TBX15 1
- TBX3 1
- TBX4 1
- TBX5 2
- TBX6 4
- TBXAS1 1
- TCIRG1 1
- TCOF1 1
- TCTEX1D2 1
- TCTN2 1
- TCTN3 1
- TERT 1
- TGFB1 1
- TGFB2 1
- TGFBR2 0
- TMCO1 1
- TMEM165 1
- TMEM216 1
- TMEM231 1
- TMEM38B 1
- TMEM53 1
- TNFRSF11A 1
- TNFRSF11B 1
- TNFSF11 1
- TONSL 2
- TP63 1
- TRAPPC2 1
- TREM2 1
- TRIP11 1
- TRPS1 1
- TRPV4 1
- TRPV6 1
- TTC21B 3
- TTC8 1
- TWIST1 1
- TYROBP 2
- UBA2 3
- UFSP2 2
- USP9X 1
- VDR 1
- WDPCP 1
- WDR19 1
- WDR34 1
- WDR35 2
- WDR60 1
- WISP3 1
- WNT1 1
- WNT10B 1
- WNT5A 1
- WNT7A 2
- XRCC4 2
- XYLT1 1
- XYLT2 1
- YY1 1
- ZMPSTE24 1
- ZSWIM6 2
- B9D1 3
- BNIP1 1
- CHST11 1
- CTGF 2
- FAM20B 1
- FGF8 2
- GNPNAT1 3
- HDAC4 3
- HNRNPK 2
- HYLS1 3
- IFT81 1
- MANBA 1
- MIA3 1
- MTAP 1
- RAD21 3
- RSPRY1 1
- SIK3 1
- SLC13A1 3
- TAPT1 3
- TMEM251 2
- ACVR2B 2
- ADGRV1 1
- ADI1 1
- AHI1 2
- AKT1 3
- ARL13B 1
- ATXN10 0
- B9D2 1
- BANF1 1
- BMP5 2
- C5orf42 1
- CCDC28B 3
- CCDC39 1
- CCDC40 1
- CD96 1
- CDC6 1
- CDH23 1
- CEP164 1
- CEP41 1
- CFTR 1
- CKAP2L 1
- CLRN1 1
- COL12A1 1
- COL5A1 1
- COLEC10 1
- CRB1 1
- CRELD1 2
- CRX 1
- DACT1 1
- DDX41 1
- DLX6 0
- DNAAF1 1
- DNAAF2 1
- DNAAF3 1
- DNAH11 2
- DNAH5 1
- DNAI1 1
- DNAI2 1
- DNAL1 1
- DOLPP1 0
- DPM2 1
- DPM3 1
- EP300 1
- ESR1 1
- ETF1 1
- FBLIM1 0
- FBLN1 2
- FBXW4 1
- FMN1 1
- FOXC1 2
- FOXH1 1
- GDF1 2
- GDF3 1
- GLIS2 1
- GREM1 1
- GUCY2D 1
- HDAC5 0
- HOXA11 1
- HOXD11 0
- IDH2 1
- IFT88 0
- INVS 1
- IQCB1 1
- LAMA5 2
- LCA5 1
- LEFTY2 2
- LOXL3 1
- LRAT 1
- LRP6 2
- LTBP2 1
- MAN2C1 2
- MCM5 1
- MMP14 0
- MYO7A 1
- NEK8 1
- NEK9 1
- NFATC2 1
- NIN 1
- NKX2-5 2
- NME8 1
- NODAL 2
- NPHP1 1
- NPHP3 2
- NPHP4 1
- NPPC 1
- OAT 1
- PCDH15 1
- PIK3CA 1
- PIN1 0
- PIR 0
- PKD2 1
- PKHD1 1
- PLCB3 1
- PLEKHM1 1
- PLOD1 1
- PTPRQ 1
- RD3 1
- RDH12 1
- RPE65 1
- RPGR 1
- RPGRIP1 2
- RSPH4A 1
- RSPH9 1
- SCNN1A 1
- SCNN1B 1
- SCNN1G 2
- SDCCAG8 1
- SEM1 0
- SHH 2
- SLCO5A1 0
- SOX8 1
- SPECC1L 1
- TCTN1 1
- TDP2 1
- TGDS 1
- THPO 1
- TMEM138 1
- TMEM237 1
- TMEM67 1
- TNXB 1
- TOPORS 2
- TRIM32 2
- TRMT10A 1
- TSC1 0
- TSC2 0
- TULP1 2
- UMOD 3
- USH1C 1
- USH1G 1
- USH2A 1
- VAC14 1
- VHL 0
- WHRN 1
- WNT3 1
- WRN 1
- XPNPEP3 1
- ZBTB16 1
- ZIC3 2
- ZNF423 2
STRs in panel
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Regions in panel
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-
2q37.3 terminal region (includes HDAC4) Loss
ISCA-37394-Loss 0 -
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss 0 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37418-Loss 0 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 0 -
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss 0 -
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-37501-Loss 0
Skeletal dysplasia
Gene: GINS3 Green List (high evidence)
GINS3 (GINS complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000181938
EnsemblGeneIds (GRCh37): ENSG00000181938
OMIM: 610610, Gene2Phenotype
GINS3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000181938
EnsemblGeneIds (GRCh37): ENSG00000181938
OMIM: 610610, Gene2Phenotype
GINS3 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model.
Sources: LiteratureCreated: 20 Jul 2022, 12:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
Publications
Created: 20 Jul 2022, 12:05 a.m.
Panel version: 0.180
Panel version: 0.180
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
- OMIM
- 610610
- Clinvar variants
- Variants in GINS3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Jul 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gins3 has been classified as Green List (High Evidence).
20 Jul 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gins3 has been classified as Green List (High Evidence).
20 Jul 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GINS3 was added gene: GINS3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS3 were set to 35603789 Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Review for gene: GINS3 was set to GREEN