- Panels
- Skeletal dysplasia
- MCM5
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: MCM5 Red List (low evidence)
MCM5 (minichromosome maintenance complex component 5)
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000100297
EnsemblGeneIds (GRCh37): ENSG00000100297
OMIM: 602696, Gene2Phenotype
MCM5 is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
Associated with phenotype in OMIM, not in G2P. At least two variants reported as compound heterozygotes in one case (PMID 28198391), phenotype includes bilateral absence of patellar ossification centresCreated: 22 Aug 2017, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Meier-Gorlin syndrome 8 617564
Publications
Created: 22 Aug 2017, 9:51 a.m.
Panel version: 1.59
Panel version: 1.59
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- ?Meier-Gorlin syndrome 8 617564
- OMIM
- 602696
- Clinvar variants
- Variants in MCM5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Aug 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)MCM5 was added to Unexplained skeletal dysplasiapanel. Sources: Literature
22 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)MCM5 was created by sleigh