- Panels
- Skeletal dysplasia
- VAC14
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: VAC14 Red List (low evidence)
VAC14 (Vac14, PIKFYVE complex component)
EnsemblGeneIds (GRCh38): ENSG00000103043
EnsemblGeneIds (GRCh37): ENSG00000103043
OMIM: 604632, Gene2Phenotype
VAC14 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000103043
EnsemblGeneIds (GRCh37): ENSG00000103043
OMIM: 604632, Gene2Phenotype
VAC14 is in 7 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on publications: PMID:28635952 (2017) publishes the data from the GRD17 conference abstract and poster from David Dyment's group.Created: 26 Jun 2017, 11:30 a.m.
VAC14 added to panel based on Poster P10 at GRD17 conference. David Dyment et al., report a female neonate with a clinical diagnosis of Yunis-Varon syndrome. Her phenotype included multiple skeletal anomalies, dysmorphic facial features, developmental delay, leukoencephalopathy, and cystic basal ganglial degeneration. WES identified biallelic VAC14 mutations in the proband. Manuscript is under review. Added to panel after e-mail permission by D. Dyment.Created: 12 Apr 2017, 2:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
Created: 12 Apr 2017, 2:02 p.m.
Panel version: 1.18
Panel version: 1.18
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)
- OMIM
- 604632
- Clinvar variants
- Variants in VAC14
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
26 Jun 2017, Gel status: 0
Set publications
Rebecca Foulger (Genomics England curator)Publications for VAC14 were set to 28635952
26 Jun 2017, Gel status: 0
Set publications
Rebecca Foulger (Genomics England curator)Publications for VAC14 were set to 28635952
12 Apr 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)VAC14 was added to Unexplained skeletal dysplasiapanel. Sources: Other
12 Apr 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)VAC14 was created by rfoulger