Genes in panel
- ADNP 1
- ANK2 1
- ARID1B 1
- ASH1L 1
- ASXL3 1
- CHD2 1
- CHD8 1
- CUL3 1
- DSCAM 1
- DYRK1A 1
- GRIN2B 1
- KATNAL2 1
- KMT2A 1
- KMT5B 1
- MYT1L 1
- NAA15 1
- POGZ 1
- PTEN 2
- RAB39B 2
- RELN 1
- SCN2A 1
- SETD5 1
- SHANK3 1
- SYNGAP1 1
- TBR1 1
- TRIP12 1
- ZNF292 2
- ANKRD11 1
- BAZ2B 2
- BCKDK 1
- BCL11A 1
- CACNA1D 1
- CACNA1H 1
- CACNA2D3 1
- CIC 1
- CMIP 3
- CNOT3 1
- CNTN4 1
- CNTNAP2 1
- CTNND2 1
- CUX1 1
- DDX3X 1
- DEAF1 1
- DIP2C 1
- ERBIN 1
- FOXP1 1
- GABRB3 1
- GIGYF2 1
- GRIA1 1
- GRIP1 1
- ILF2 1
- INTS6 1
- IRF2BPL 1
- KAT2B 1
- KDM5B 1
- KDM6A 1
- KMT2C 1
- LEO1 1
- MAGEL2 1
- MBOAT7 1
- MECP2 1
- MED13 1
- MED13L 1
- MET 1
- NCKAP1 1
- NLGN3 1
- NRXN1 1
- PHF3 1
- PTCHD1 1
- RANBP17 1
- RIMS1 1
- SCN9A 1
- SHANK2 1
- SLC6A1 1
- SMARCC2 1
- SPAST 1
- SRCAP 1
- SRSF11 1
- TAOK2 1
- TBL1XR1 1
- TCF20 1
- TNRC6B 1
- TRIO 1
- UBN2 1
- UPF3B 1
- USP15 1
- USP7 1
- WAC 1
- WDFY3 1
- ABAT 1
- ABCA10 1
- ABCA13 1
- ABCA7 1
- ACE 1
- ACHE 1
- ACTN4 1
- ADA 1
- ADCY3 1
- ADCY5 1
- ADK 1
- ADORA2A 1
- ADORA3 1
- ADRB2 1
- AFF2 1
- AGAP1 1
- AGAP2 1
- AGBL4 1
- AGMO 1
- AGO1 1
- AGTR2 1
- AHDC1 1
- AKAP9 1
- AMPD1 1
- AMT 1
- ANK3 1
- ANKS1B 1
- ANXA1 1
- APBA2 1
- APBB1 1
- APH1A 1
- AR 1
- ARHGAP11B 1
- ARHGAP32 1
- ARHGAP5 1
- ARHGEF10 1
- ARHGEF9 1
- ARNT2 1
- ASAP2 1
- ASMT 1
- ASPM 1
- ASTN2 1
- ATP10A 1
- ATP1A1 1
- ATP1A3 1
- ATP2B2 1
- ATP6V0A2 1
- ATRX 1
- AUTS2 1
- AVPR1A 1
- AVPR1B 1
- AZGP1 1
- BBS4 1
- BCAS1 1
- BICDL1 1
- BIRC6 1
- BRCA2 1
- BRD4 1
- BRSK1 1
- BST1 1
- BTAF1 1
- C15orf62 1
- C3orf58 1
- C4B 1
- CA6 1
- CACNA1B 1
- CACNA1E 1
- CACNA1F 1
- CACNA1G 1
- CACNA1I 1
- CACNA2D1 1
- CACNB2 1
- CADM1 1
- CADM2 1
- CADPS2 1
- CAMK2A 1
- CAMK4 1
- CAPN12 1
- CAPRIN1 1
- CARD11 1
- CASC4 2
- CASK 1
- CC2D1A 1
- CCDC88C 1
- CCDC91 1
- CCNG1 1
- CCT4 1
- CD276 1
- CD38 1
- CD99L2 1
- CDC42BPB 1
- CDH10 1
- CDH11 1
- CDH13 1
- CDH22 1
- CDH8 1
- CDH9 1
- CECR2 1
- CELF4 1
- CELF6 1
- CEP135 1
- CEP290 1
- CEP41 1
- CGNL1 1
- CHD1 2
- CHD3 1
- CHMP1A 1
- CHRM3 1
- CHRNA7 1
- CHRNB3 1
- CIB2 1
- CLASP1 1
- CLN8 1
- CLTCL1 1
- CNGB3 1
- CNKSR2 1
- CNR1 1
- CNTN3 1
- CNTN5 1
- CNTN6 1
- CNTNAP3 1
- CNTNAP4 1
- CNTNAP5 1
- COL28A1 1
- CPEB4 1
- CPT2 1
- CSMD1 1
- CSNK1E 1
- CTCF 1
- CTNNA3 1
- CTNNB1 1
- CTTNBP2 1
- CUL7 1
- CUX2 1
- CX3CR1 1
- CYFIP1 1
- CYLC2 1
- CYP11B1 1
- DAGLA 1
- DAPP1 1
- DDC 2
- DDX53 1
- DENR 1
- DIP2A 1
- DISC1 1
- DIXDC1 1
- DLG1 1
- DLGAP1 1
- DLGAP2 1
- DLGAP3 1
- DLX2 1
- DLX6 1
- DMXL2 1
- DNAH10 1
- DNAH17 1
- DNAH3 1
- DNER 1
- DNMT3A 1
- DOCK1 1
- DOCK4 1
- DOCK8 1
- DPP10 1
- DPP4 1
- DPP6 1
- DPYD 1
- DPYSL2 1
- DPYSL3 1
- DRD1 1
- DRD2 1
- DRD3 1
- DST 1
- DUSP15 1
- DVL3 1
- DYDC1 1
- DYDC2 1
- DYNC1H1 1
- EFR3A 1
- EHMT1 1
- EIF3G 1
- EIF4E 1
- ELAVL2 1
- ELAVL3 1
- ELOVL2 1
- ELP4 1
- EMSY 1
- EN2 1
- EP300 1
- EP400 1
- EPC2 1
- EPHB2 1
- EPPK1 1
- ERG 1
- ERMN 1
- ESR2 1
- ESRRB 1
- ETFB 1
- EXOC3 1
- EXOC5 1
- EXOC6 1
- EXOC6B 1
- EXT1 1
- FABP5 1
- FAM47A 1
- FAM92B 2
- FAN1 1
- FAT1 1
- FBN1 1
- FBXO11 1
- FBXO33 1
- FBXO40 1
- FCRL6 1
- FEZF2 1
- FGA 1
- FHIT 1
- FOXP2 1
- FRK 1
- GABBR2 1
- GABRA4 1
- GABRG3 1
- GALNT13 1
- GALNT14 1
- GALNT8 1
- GAS2 1
- GDA 1
- GGNBP2 1
- GIGYF1 1
- GLIS1 1
- GLO1 1
- GLRA2 1
- GNAS 1
- GNB1L 1
- GPC4 1
- GPC6 1
- GPD2 1
- GPHN 1
- GPR37 1
- GPR85 1
- GPX1 1
- GRID1 1
- GRID2 1
- GRID2IP 1
- GRIK2 1
- GRIK3 1
- GRIK4 1
- GRIK5 1
- GRIN1 1
- GRIN2A 1
- GRM5 1
- GRM7 1
- GSTM1 1
- GTF2I 1
- GUCY1A2 1
- HDLBP 1
- HECTD4 1
- HECW2 1
- HIVEP3 1
- HLA-A 1
- HLA-B 1
- HLA-DRB1 1
- HLA-G 1
- HMGN1 1
- HNRNPH2 1
- HNRNPU 1
- HOMER1 1
- HRAS 1
- HS3ST5 1
- HSD11B1 1
- HTR1B 1
- HTR3A 1
- HTR3C 1
- HYDIN 1
- ICA1 1
- IL1R2 1
- IL1RAPL1 1
- IL1RAPL2 1
- IMMP2L 1
- INPP1 1
- IQGAP3 1
- IQSEC2 1
- ITGB3 1
- ITPR1 1
- JARID2 1
- JMJD1C 1
- KANK1 1
- KAT6A 1
- KATNAL1 1
- KCND2 1
- KCND3 1
- KCNJ10 1
- KCNJ15 1
- KCNK7 1
- KCNMA1 2
- KCNQ2 1
- KCNQ3 1
- KCTD13 1
- KDM4B 1
- KDM4C 1
- KDM5C 1
- KDM6B 1
- KHDRBS2 1
- KIAA1586 1
- KIF13B 1
- KIF14 1
- KIF5C 1
- KIRREL3 1
- KLF16 1
- KMT2E 1
- KRR1 1
- KRT26 1
- LAMA1 1
- LAMB1 1
- LEP 1
- LILRB2 1
- LIN7B 1
- LMX1B 1
- LRBA 1
- LRFN2 1
- LRFN5 1
- LRP2 1
- LRRC1 1
- LRRC4 1
- LZTR1 1
- LZTS2 1
- MACROD2 1
- MAOA 1
- MAOB 1
- MAPK3 1
- MARK1 1
- MBD1 1
- MBD3 1
- MBD4 1
- MBD5 1
- MBD6 1
- MCM4 1
- MCM6 1
- MCPH1 1
- MDGA2 1
- MEF2C 1
- MEGF10 1
- MEGF11 1
- MFRP 1
- MIB1 1
- MIR137 2
- MKL2 1
- MNT 1
- MPP6 2
- MSANTD2 1
- MSR1 1
- MTF1 1
- MTHFR 1
- MTOR 1
- MUC12 1
- MUC4 1
- MYH10 1
- MYH4 1
- MYO16 1
- MYO1E 1
- MYO5A 1
- MYO5C 1
- MYO9B 1
- NAALADL2 1
- NACC1 1
- NAV2 1
- NBEA 1
- NCKAP5 1
- NCOR1 1
- NDUFA5 1
- NEO1 1
- NEXMIF 1
- NFIA 1
- NFIB 1
- NINL 1
- NIPA1 1
- NIPA2 1
- NLGN1 1
- NLGN2 1
- NLGN4X 1
- NLGN4Y 1
- NOTCH2NL 2
- NPAS2 1
- NR1D1 1
- NR2F1 1
- NR3C2 1
- NR4A2 1
- NRCAM 1
- NRP2 1
- NRXN2 1
- NRXN3 1
- NSMCE3 1
- NTNG1 1
- NTRK1 1
- NTRK3 1
- NUAK1 1
- NUDCD2 1
- NUP133 1
- NXPH1 1
- ODF3L2 1
- OFD1 1
- OPHN1 1
- OR1C1 1
- OR2M4 1
- OR2T10 1
- OR52M1 1
- OTUD7A 1
- OTX1 1
- OXT 1
- OXTR 1
- P2RX5 1
- P4HA2 1
- PAH 1
- PAK2 1
- PARD3B 1
- PATJ 1
- PAX5 1
- PCDH10 1
- PCDH11X 1
- PCDH15 1
- PCDH9 1
- PCDHA1 1
- PCDHA10 1
- PCDHA11 1
- PCDHA12 1
- PCDHA13 1
- PCDHA2 1
- PCDHA3 1
- PCDHA4 1
- PCDHA5 1
- PCDHA6 1
- PCDHA7 1
- PCDHA8 1
- PCDHA9 1
- PCDHAC1 1
- PCDHAC2 1
- PDCD1 1
- PDE1C 1
- PER1 1
- PER2 1
- PEX7 1
- PHB 1
- PHF2 1
- PHIP 1
- PHRF1 1
- PIK3CG 1
- PITX1 1
- PLAUR 1
- PLCB1 1
- PLN 1
- PLXNA3 1
- PLXNA4 1
- PLXNB1 1
- PNPLA7 1
- POLA2 1
- POMT1 1
- PON1 1
- POT1 1
- PPFIA1 1
- PPM1D 1
- PPP1R1B 1
- PPP2R1B 1
- PPP2R5D 1
- PREX1 1
- PRICKLE1 1
- PRICKLE2 1
- PRKCB 1
- PRKDC 1
- PRKN 1
- PRODH 1
- PRPF39 1
- PRUNE2 1
- PSD3 1
- PTBP2 1
- PTGS2 1
- PTK7 1
- PTPN11 1
- PTPRB 1
- PTPRC 1
- PTPRT 1
- PXDN 1
- PYHIN1 1
- QRICH1 1
- RAB11FIP5 1
- RAB2A 1
- RAB43 1
- RAD21L1 1
- RAI1 1
- RAPGEF4 1
- RASSF5 1
- RBFOX1 1
- RBM27 1
- REEP3 1
- RERE 1
- RFX3 1
- RGS7 1
- RHOXF1 1
- RIMS3 1
- RIT2 1
- RNF135 1
- RNF38 1
- ROBO2 1
- RPL10 1
- RPS6KA2 1
- RPS6KA3 1
- SAE1 1
- SAMD11 1
- SASH1 1
- SATB2 1
- SBF1 1
- SCFD2 1
- SCN1A 1
- SCN4A 1
- SCN8A 1
- SCP2 1
- SDC2 1
- SEMA5A 1
- SERPINE1 1
- SETBP1 1
- SETD1B 1
- SETD2 1
- SETDB1 1
- SETDB2 1
- SEZ6L2 1
- SGSM3 1
- SHANK1 1
- SHOX 1
- SIN3A 1
- SLC12A5 1
- SLC1A1 1
- SLC22A15 1
- SLC22A9 1
- SLC24A2 1
- SLC25A12 1
- SLC25A27 1
- SLC25A39 1
- SLC27A4 1
- SLC29A4 1
- SLC35B1 1
- SLC38A10 1
- SLC4A10 1
- SLC6A3 1
- SLC6A4 1
- SLC6A8 1
- SLC7A3 1
- SLC7A5 1
- SLC7A7 1
- SLC9A9 1
- SLCO1B3 1
- SLITRK5 1
- SMAD4 1
- SMARCA4 1
- SMC3 1
- SMG6 1
- SNAP25 1
- SND1 1
- SNTG2 1
- SOD1 1
- SPARCL1 1
- SPP2 1
- SRGAP3 1
- SSPO 1
- SSRP1 1
- ST7 1
- ST8SIA2 1
- STK39 1
- STX1A 1
- STXBP1 1
- STXBP5 1
- STYK1 1
- SYAP1 1
- SYN1 1
- SYN2 1
- SYNCRIP 1
- SYNE1 1
- SYNJ1 1
- SYT17 1
- TAF1C 1
- TAF6 1
- TANC2 2
- TBC1D31 1
- TBC1D5 1
- TBL1X 1
- TBX1 1
- TCF4 1
- TCF7L2 1
- TDO2 1
- TECTA 1
- TERB2 1
- TERF2 1
- TET2 1
- THBS1 1
- THRA 1
- TLK2 1
- TM4SF19 1
- TMLHE 1
- TMPRSS9 2
- TOP3B 1
- TPO 1
- TRAF7 1
- TRAPPC9 1
- TRIM33 1
- TRPC6 1
- TRPM1 1
- TSC2 1
- TSHZ3 1
- TSPAN17 1
- TSPAN7 1
- TSPOAP1 1
- TTC25 2
- TTN 1
- TUBGCP5 1
- UBE2H 1
- UBE3A 1
- UBE3C 1
- UBR5 1
- UNC13A 1
- UNC79 1
- UNC80 1
- USH2A 1
- USP45 1
- USP9Y 1
- VASH1 1
- VDR 1
- VIL1 1
- VSIG4 1
- WNK3 1
- WNT1 1
- WWOX 1
- XPO1 1
- YEATS2 1
- YTHDC2 1
- YWHAE 1
- ZBTB16 1
- ZBTB20 1
- ZC3H4 1
- ZMYND11 1
- ZNF18 1
- ZNF385B 1
- ZNF462 1
- ZNF517 1
- ZNF548 1
- ZNF559 1
- ZNF626 1
- ZNF713 1
- ZNF774 1
- ZNF804A 1
- ZNF827 1
- ZWILCH 1
- RIMS2 1
STRs in panel
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Regions in panel
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This Panel is marked as Retired
Autism
Gene: KMT5B Green List (high evidence)
KMT5B (lysine methyltransferase 5B)
EnsemblGeneIds (GRCh38): ENSG00000110066
EnsemblGeneIds (GRCh37): ENSG00000110066
OMIM: 610881, Gene2Phenotype
KMT5B is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000110066
EnsemblGeneIds (GRCh37): ENSG00000110066
OMIM: 610881, Gene2Phenotype
KMT5B is in 5 panels
1 review
Louise Daugherty (Genomics England Curator)
I don't know
Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/KMT5BThe number of ASD-specific reports that implicate a gene compared to the total number of relevant non-ASD-specific reports that mention the gene. Autism reports / Total reports : 6 / 9Created: 1 Apr 2019, 11:26 a.m.
Created: 1 Apr 2019, 11:26 a.m.
Panel version: 0.11
Panel version: 0.11
Details
- Sources
-
- Expert Review Green
- SFARI
- Phenotypes
-
- EPS, ASD
- OMIM
- 610881
- Clinvar variants
- Variants in KMT5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Apr 2019, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene KMT5B were changed from 22542183; 25363760; 26401017; 22495306 to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
1 Apr 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes EPS, ASD for gene: KMT5B
29 Mar 2019, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene KMT5B were changed from to 22542183; 25363760; 26401017; 22495306
29 Mar 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to KMT5B. Rating Changed from Red List (low evidence) to Green List (high evidence)
29 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: KMT5B was added gene: KMT5B was added to Autism. Sources: SFARI Mode of inheritance for gene: KMT5B was set to