- Panels
- Molecular autopsy
- NKX2-5
Genes in panel
- AARS2 0
- AASS 0
- ABAT 0
- ABCA1 0
- ABCB11 0
- ABCB4 0
- ABCB7 0
- ABCC9 2
- ABCD1 0
- ABCD4 0
- ABHD5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADS 0
- ACADSB 0
- ACADVL 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSF3 0
- ACTC1 2
- ACTN2 2
- ADAR 0
- AFG3L2 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AIFM1 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALDH6A1 0
- ALDH7A1 0
- ALDOA 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- AMACR 0
- AMN 0
- AMT 0
- ANK2 2
- ANO10 0
- APOA1 0
- APOA5 0
- APOC2 0
- APOE 0
- APOPT1 1
- APRT 0
- APTX 0
- ARG1 0
- ARSA 0
- ARSB 0
- ARSE 1
- ASL 0
- ASPA 0
- ASS1 0
- ATAD3A 0
- ATIC 0
- ATP13A2 0
- ATP6AP1 0
- ATP6V0A2 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATPAF2 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALT1 0
- B4GALT7 0
- B4GAT1 0
- BAAT 0
- BAG3 1
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BOLA3 0
- BRAF 1
- BTD 0
- C12orf65 1
- C19orf12 0
- C1QBP 0
- CA5A 0
- CACNA1C 2
- CACNB2 2
- CALM1 2
- CALM2 0
- CASQ2 2
- CAT 0
- CBL 1
- CBS 0
- CCDC115 1
- CHCHD10 0
- CHKB 0
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPB 0
- CLPP 0
- CNNM2 0
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COL12A1 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COQ9 0
- COX10 0
- COX14 0
- COX15 1
- COX20 0
- COX6A1 0
- COX6B1 0
- COX7B 0
- CP 0
- CPOX 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CSRP3 2
- CTH 0
- CTNS 0
- CTSA 0
- CTSD 0
- CTSK 0
- CUBN 0
- CYC1 0
- CYP27A1 0
- D2HGDH 0
- DAG1 0
- DARS 1
- DARS2 0
- DBH 0
- DBT 0
- DDC 0
- DES 2
- DGUOK 0
- DHFR 0
- DHTKD1 0
- DLAT 0
- DLD 0
- DMD 1
- DNA2 0
- DNAJC12 0
- DNAJC19 1
- DNAJC5 0
- DNM1L 0
- DOLK 1
- DPAGT1 0
- DPM1 0
- DPM2 0
- DPYD 0
- DPYS 0
- DSC2 2
- DSG2 2
- DSP 2
- DYM 0
- EARS2 0
- EBP 0
- ECHS1 0
- ELAC2 0
- ENO3 0
- EPG5 0
- EPM2A 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EXT1 0
- EXT2 0
- EYA4 2
- FA2H 0
- FAH 0
- FAR1 0
- FARS2 0
- FASTKD2 0
- FBP1 0
- FBXL4 0
- FDXR 0
- FH 0
- FHL1 2
- FKRP 1
- FKTN 1
- FLAD1 0
- FMO3 0
- FOLR1 0
- FOXRED1 0
- FUCA1 0
- FUT8 0
- G6PC 1
- G6PC3 0
- GAA 1
- GABRG2 0
- GALC 0
- GALE 0
- GALK1 0
- GALNS 0
- GALNT3 0
- GALT 0
- GARS 1
- GATM 0
- GBA 0
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 0
- GDAP1 0
- GFER 0
- GFM1 0
- GFPT1 0
- GIF 1
- GLA 2
- GLB1 0
- GLDC 0
- GLRA1 0
- GLRX5 0
- GLUD1 0
- GLYCTK 0
- GM2A 0
- GMPPB 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPD1 0
- GPD1L 2
- GPHN 0
- GRHPR 0
- GSS 0
- GTPBP3 0
- GUSB 0
- GYG1 0
- GYS1 0
- GYS2 0
- HAAO 0
- HADHA 1
- HADHB 0
- HAMP 0
- HCCS 0
- HCFC1 0
- HCN4 2
- HEXA 0
- HEXB 0
- HFE 1
- HFE2 1
- HGD 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMBS 0
- HMGCL 0
- HMGCS2 0
- HOGA1 0
- HPRT1 0
- HRAS 1
- HSD17B4 0
- HSD3B7 0
- HSPD1 0
- HTRA2 0
- HYAL1 0
- IARS2 0
- IBA57 0
- IDH2 0
- IDS 0
- IDUA 0
- IER3IP1 0
- INPP5K 0
- ISPD 1
- ITGA7 0
- ITPA 0
- IVD 0
- JUP 2
- KARS 2
- KCNE1 2
- KCNE2 2
- KCNE3 2
- KCNH2 2
- KCNJ2 2
- KCNJ5 2
- KCNQ1 2
- KRAS 1
- KYNU 0
- L2HGDH 0
- LAMA2 1
- LAMP2 2
- LARGE1 0
- LARS2 0
- LCAT 0
- LCT 0
- LDB3 1
- LDHA 0
- LIAS 0
- LIPA 0
- LIPT1 0
- LMBRD1 0
- LMNA 2
- LONP1 0
- LPIN1 0
- LPL 0
- LRPPRC 0
- LZTR1 0
- MAN1B1 0
- MAN2B1 0
- MAP2K1 1
- MAP2K2 1
- MARS2 0
- MAT1A 0
- MCCC1 0
- MCCC2 0
- MCEE 0
- MCOLN1 0
- MDH2 0
- MFF 0
- MFN2 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MICU1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOGS 0
- MPDU1 0
- MPI 0
- MPV17 0
- MRPL44 1
- MRPS22 0
- MRPS34 0
- MSMO1 0
- MT-ATP6 0
- MT-ATP8 0
- MT-CO1 0
- MT-CO2 0
- MT-CO3 0
- MT-CYB 0
- MTHFR 0
- MT-ND1 0
- MT-ND2 0
- MT-ND3 0
- MT-ND4 0
- MT-ND4L 0
- MT-ND5 0
- MT-ND6 0
- MTO1 0
- MTR 0
- MT-RNR1 0
- MTRR 0
- MT-TA 0
- MT-TC 0
- MT-TD 0
- MT-TE 0
- MT-TF 0
- MT-TG 0
- MT-TH 0
- MT-TI 0
- MT-TK 0
- MT-TL1 0
- MT-TL2 0
- MT-TM 0
- MT-TN 0
- MTTP 0
- MT-TP 0
- MT-TQ 0
- MT-TR 0
- MT-TS1 0
- MT-TS2 0
- MT-TV 0
- MT-TW 0
- MT-TY 0
- MUT 1
- MYBPC3 2
- MYH6 2
- MYH7 2
- MYL2 2
- MYL3 2
- MYMK 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NARS2 0
- NDUFA1 1
- NDUFA10 0
- NDUFA11 0
- NDUFA2 0
- NDUFAF1 0
- NDUFAF2 0
- NDUFAF3 0
- NDUFAF4 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFB11 0
- NDUFB3 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEU1 0
- NEXN 2
- NF1 0
- NFU1 0
- NGLY1 0
- NHLRC1 0
- NPC1 0
- NPC2 0
- NRAS 1
- NSDHL 0
- NT5C3A 0
- NUBPL 0
- OAT 0
- OPA1 0
- OPA3 0
- OTC 0
- OXCT1 0
- PAH 0
- PC 0
- PCBD1 0
- PCCA 0
- PCCB 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHKA1 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHOX2B 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PKP2 2
- PLA2G6 0
- PLN 2
- PMM2 0
- PMPCA 0
- PNPO 0
- PNPT1 0
- POLG 0
- POLG2 1
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMT1 0
- POMT2 0
- PPA2 1
- PPOX 0
- PPP1CB 0
- PPP1R13L 0
- PPT1 0
- PRKAG2 2
- PRODH 0
- PSAP 0
- PTPN11 1
- PUS1 0
- PYCR1 0
- PYGL 0
- PYGM 0
- QDPR 0
- RAB3GAP2 0
- RAF1 1
- RARS2 0
- RBCK1 0
- RBM20 2
- RFT1 0
- RIT1 0
- RMND1 0
- RNASEH1 0
- ROBO3 0
- RPIA 0
- RPL10 0
- RRM2B 0
- RYR1 0
- RYR2 2
- SACS 0
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SCN10A 1
- SCN1B 2
- SCN3B 2
- SCN5A 2
- SCO1 0
- SCO2 0
- SCP2 0
- SDHA 1
- SDHAF1 0
- SDHB 0
- SDHD 0
- SEC23B 0
- SELENON 0
- SERAC1 0
- SGCD 2
- SGSH 0
- SHOC2 1
- SI 0
- SLC16A1 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 1
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A20 0
- SLC25A22 0
- SLC25A26 0
- SLC25A3 0
- SLC25A38 0
- SLC25A4 3
- SLC25A46 0
- SLC2A2 0
- SLC30A10 0
- SLC35A1 1
- SLC35C1 0
- SLC35D1 0
- SLC37A4 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC40A1 0
- SLC46A1 0
- SLC4A3 0
- SLC52A2 0
- SLC52A3 0
- SLC5A1 0
- SLC6A19 1
- SLC7A7 0
- SMPD1 0
- SNTA1 3
- SOS1 1
- SOS2 0
- SPG7 0
- SPRED1 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYNE1 0
- TACO1 0
- TALDO1 0
- TANGO2 0
- TAZ 1
- TCAP 3
- TFR2 0
- TIMM8A 0
- TK2 0
- TMEM165 0
- TMEM43 2
- TMEM5 1
- TMEM70 0
- TNNC1 2
- TNNI3 2
- TNNI3K 1
- TNNT2 2
- TPK1 0
- TPM1 2
- TPP1 0
- TRDN 2
- TRIM37 0
- TRMU 0
- TRNT1 0
- TRPM4 2
- TRPM6 0
- TSFM 0
- TTC19 0
- TTN 2
- TUSC3 0
- TWNK 0
- TYMP 0
- UGT1A1 0
- UMPS 0
- UROD 0
- UROS 0
- VARS2 0
- VCL 2
- WDR45 0
- XDH 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ABCG5 0
- ABCG8 0
- ABHD12 0
- ACTA1 1
- ACY1 0
- ADA 0
- ADSL 0
- ALAS2 0
- ALDH3A2 0
- ALG13 0
- ALPL 0
- ANKRD1 1
- APOB 0
- ASAH1 0
- CACNA2D1 2
- CISD2 0
- CLDN16 0
- CLDN19 0
- COA3 0
- COA6 0
- COL4A1 0
- CRYAB 1
- CSTB 0
- CTSC 0
- CYCS 0
- CYP7B1 0
- DCC 0
- DCXR 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DHODH 0
- DPM3 0
- DYSF 0
- FECH 0
- FGFR2 0
- FLNC 1
- FTCD 0
- FXN 1
- GAMT 0
- GATAD1 1
- GK 0
- GLUL 0
- GNMT 0
- HADH 0
- HPD 0
- HPS1 0
- HSD17B10 0
- ISCU 0
- JPH2 1
- KCNJ8 1
- LBR 0
- LDLR 0
- LDLRAP1 0
- LIPC 0
- MAGT1 0
- MANBA 0
- MAOA 0
- MOCS1 0
- MOCS2 0
- MRPL3 0
- MTFMT 0
- MTPAP 0
- MT-RNR2 0
- MT-TT 0
- MVK 0
- MYLK2 2
- MYPN 1
- NDUFA4 0
- NDUFB9 0
- OCRL 0
- OPLAH 0
- PANK2 0
- PARS2 1
- PCK1 0
- PCSK9 0
- PDPR 0
- PEPD 0
- PGAM2 0
- PHGDH 0
- PIGM 0
- PINK1 0
- PNP 0
- POR 0
- PRPS1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PSPH 0
- PTS 0
- QARS 1
- RANBP2 1
- RBP4 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- SC5D 0
- SDHAF2 0
- SDHC 0
- SETX 0
- SKIV2L 0
- SLC12A3 0
- SLC18A2 0
- SLC25A12 0
- SLC2A1 0
- SLC35A2 0
- SLC3A1 0
- SLC6A3 0
- SLC6A8 0
- SLC7A9 0
- SPR 0
- SPTLC1 0
- SPTLC2 0
- ST3GAL3 0
- STS 0
- STT3A 0
- TARS2 0
- TAT 0
- TCN2 0
- TH 0
- TIMM50 0
- TMEM126B 0
- TREX1 0
- TTC37 0
- TTPA 0
- TTR 2
- TUFM 0
- UMOD 0
- UQCRB 0
- UQCRQ 1
- UROC1 0
- VIPAS39 0
- VKORC1 0
- VPS33B 0
- WFS1 0
- XPNPEP3 0
- A2ML1 0
- ABCG2 0
- AHCY 0
- AKAP9 2
- ALDH1B1 0
- ALG10 1
- ALG10B 1
- ALG14 0
- ALG2 0
- ALMS1 1
- AMPD1 0
- ANO5 0
- AOX1 0
- ARSG 0
- ASCL1 0
- ATAD3B 0
- ATP5A1 1
- ATP5B 1
- ATP5C1 1
- ATP5E 1
- ATP5G1 1
- ATP5G2 1
- ATP5G3 1
- ATP5I 1
- ATP5J 1
- ATP5O 1
- ATXN7 0
- BCAT1 0
- BCAT2 0
- BDNF 0
- BOLA1 0
- BOLA2 0
- C1GALT1C1 0
- CAD 0
- CALM3 0
- CALR3 1
- CARS2 0
- CAV3 1
- CAVIN4 0
- CD320 0
- CEP89 0
- CETP 0
- CLPS 0
- CNDP1 0
- COA1 0
- COA5 0
- COG2 0
- COL4A2 0
- COQ7 0
- COX4I1 0
- COX4I2 0
- COX5A 0
- COX5B 0
- COX6C 0
- COX7A1 0
- COX7A2 0
- COX7B2 0
- COX7C 0
- COX8A 0
- CTF1 0
- CTNNA3 0
- CYP7A1 0
- DDOST 0
- DHFR2 0
- DLG1 0
- DLST 0
- DMGDH 0
- DMPK 0
- DNM2 0
- DPEP1 0
- DPP6 0
- DTD1 0
- DTNA 1
- DUX4 0
- ECSIT 0
- EDN3 0
- EGF 0
- EMD 1
- ERCC6L2 0
- FBP2 0
- FDX2 0
- FHL2 0
- FOLR2 0
- FOLR3 0
- FXYD2 0
- GALNT12 0
- GATB 0
- GATC 0
- GCSH 0
- GDNF 0
- GFM2 0
- GGT1 0
- GJA5 1
- GLS 0
- GORAB 0
- HAL 0
- HARS2 0
- HSPA9 0
- HYKK 0
- IDH3B 0
- ILK 1
- ISCA2 0
- KCNA5 1
- KCND2 0
- KCND3 1
- KCNE5 0
- KHK 0
- KLF10 1
- LACTB 0
- LAMA4 1
- LARS 1
- LETM1 0
- LFNG 0
- LIPI 0
- LIPT2 0
- LRP5 0
- LYRM4 0
- LYRM7 0
- MECR 0
- MIB1 1
- MPC1 0
- MPO 0
- MRPL12 0
- MRPL40 0
- MRPS16 0
- MRPS2 0
- MRPS23 0
- MRPS7 0
- MTHFD1 0
- MYO6 0
- MYOM1 0
- MYOZ2 1
- NADK2 0
- NAT8L 0
- NAXE 0
- NDUFA12 0
- NDUFA13 0
- NDUFA3 0
- NDUFA5 0
- NDUFA6 0
- NDUFA7 0
- NDUFA8 0
- NDUFA9 0
- NDUFAB1 0
- NDUFB1 0
- NDUFB10 0
- NDUFB2 0
- NDUFB4 0
- NDUFB5 0
- NDUFB6 0
- NDUFB7 0
- NDUFB8 0
- NDUFC1 0
- NDUFC2 0
- NDUFS5 0
- NDUFV3 0
- NEBL 0
- NFS1 0
- NKX2-5 1
- NNT 0
- NOS1AP 0
- NPPA 1
- NT5C 0
- NUP62 0
- NUS1 0
- OGDH 0
- OXA1L 0
- PABPN1 0
- PDK1 0
- PDK2 0
- PDK3 0
- PDK4 0
- PDLIM3 1
- PDP2 0
- PDXK 0
- PEX11A 0
- PHKG1 0
- PHYKPL 0
- PIGW 0
- PITRM1 1
- PLEC 0
- PNLIP 0
- PNPLA4 0
- PNPLA8 0
- POP1 0
- PPM1B 0
- PPM1K 0
- PRDM16 1
- PREPL 0
- PTCD1 0
- PTPRZ1 0
- QRSL1 0
- RANGRF 1
- RASA2 0
- RET 0
- RTN4IP1 0
- SARDH 0
- SCARB1 0
- SCN2B 0
- SCN4B 2
- SFXN4 0
- SGCB 1
- SGCG 1
- SHPK 0
- SLC22A4 0
- SLC25A2 0
- SLC25A40 0
- SLC25A42 0
- SLC27A5 0
- SLC35A3 0
- SLC36A2 0
- SLC52A1 0
- SLC6A20 1
- SLC6A4 0
- SLCO1B1 0
- SLCO1B3 0
- SLMAP 0
- SMCHD1 0
- SRRT 0
- STAT2 0
- STT3B 0
- SUCLG2 0
- SUGCT 0
- SYNE2 0
- TBX20 1
- TCN1 0
- TDO2 0
- TGFB3 1
- TIMM44 0
- TM6SF2 0
- TMEM126A 0
- TMEM199 1
- TMPO 2
- TPMT 0
- TRAP1 0
- TRAPPC11 0
- TREH 0
- TRIM63 0
- TRIT1 0
- TRMT10C 0
- TRMT5 0
- TSPYL1 0
- TXN2 0
- TXNRD2 1
- UPB1 0
- UQCC2 0
- UQCC3 0
- UQCRC1 0
- UQCRC2 0
- UQCRFS1 0
- UQCRH 0
- USF1 0
- VPS13C 0
- WARS2 0
- XK 0
This Panel is marked as Internal
Molecular autopsy
Gene: NKX2-5 Red List (low evidence)
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
I don't know
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.
Panel version: 0.86
Panel version: 0.86
Details
- Mode of Inheritance
- Unknown
- Sources
-
- London South GLH
- Expert Review Red
- Phenotypes
-
- Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Laterality disorders and isomerism
- Intellectual disability
- Familial non syndromic congenital heart disease
- Dilated Cardiomyopathy and conduction defects
- Congenital hypothyroidism
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Skeletal dysplasia
- Progressive cardiac conduction disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Sudden death in young people
History Filter Activity
20 Feb 2019, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to NKX2-5.
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NKX2-5 was added gene: NKX2-5 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: NKX2-5 was set to Unknown Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900