- Analytes
- MYH14
MYH14
Name: |
myosin heavy chain 14
|
Symbol: |
MYH14
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
FLJ13881
KIAA2034
MHC16
MYH17
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
-
Hearing loss (deafness) (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.11 1 ACTG1 100.00 1 ADCY1 98.44 1 ADGRV1 99.88 1 AIFM1 99.43 1 ATOH1 100.00 1 ATP11A 99.99 1 ATP2B2 99.96 1 ATP6V0A4 99.83 1 ATP6V1B1 99.92 1 ATP6V1B2 99.91 1 BDP1 99.89 1 BSND 100.00 1 CABP2 99.99 1 CACNA1D 99.94 1 CCDC50 99.92 1 CD164 99.92 1 CDC14A 99.95 1 CDH23 99.95 1 CEACAM16 99.92 1 CEP250 99.98 1 CEP78 99.83 1 CHD7 99.96 1 CIB2 99.99 1 CISD2 99.95 1 CLDN14 100.00 1 CLIC5 99.98 1 CLPP 100.00 1 CLRN1 99.97 1 COCH 99.90 1 COL11A1 99.89 1 COL11A2 99.35 1 COL2A1 100.00 1 COL4A3 99.94 1 COL4A4 99.96 1 COL4A5 99.18 1 COL4A6 99.37 1 COL9A1 99.98 1 COL9A2 99.95 1 COL9A3 99.86 1 CRYL1 99.89 1 CRYM 99.91 1 DCDC2 99.93 1 DIABLO 99.98 1 DIAPH1 97.50 1 DIAPH3 99.86 1 DMXL2 99.40 1 DNAAF10 99.97 1 EDN3 100.00 1 EDNRB 99.94 1 ELMOD3 100.00 1 EPHA10 97.51 1 EPS8 99.87 1 EPS8L2 99.87 1 ERAL1 99.97 1 ESPN 96.05 1 ESRP1 99.81 1 ESRRB 100.00 1 EYA1 99.93 1 EYA4 99.98 1 FDXR 99.98 1 FGF3 98.11 1 FOXI1 100.00 1 GATA3 99.89 1 GIPC3 97.45 1 GJB2 100.00 1 GJB3 100.00 1 GJB6 100.00 1 GPSM2 99.94 1 GRHL2 99.95 1 GRXCR1 100.00 1 GRXCR2 99.91 1 GSDME 99.97 1 HARS1 99.99 1 HARS2 99.51 1 HECTD3 99.39 1 HGF 99.96 1 HOMER2 99.74 1 HOXA2 99.93 1 HSD17B4 99.80 1 IFNLR1 99.52 1 ILDR1 99.95 1 KARS1 99.91 1 KCNE1 100.00 1 KCNJ10 100.00 1 KCNQ1 99.87 1 KCNQ4 99.49 1 KITLG 99.87 1 LARS2 99.99 1 LHFPL5 99.99 1 LMX1A 100.00 1 LOXHD1 99.73 1 LRTOMT 99.99 1 MARVELD2 99.96 1 MCM2 99.96 1 MET 99.97 1 MIR96 100.00 1 MITF 99.97 1 MPZL2 99.96 1 MSRB3 99.96 1 MTAP 98.96 1 MYH14 99.79 1 MYH9 100.00 1 MYO15A 99.59 1 MYO3A 99.84 1 MYO6 99.77 1 MYO7A 99.99 1 NARS2 99.94 1 NDP 99.95 1 NLRP3 99.90 1 OSBPL2 100.00 1 OTOA 99.83 1 OTOF 99.95 1 OTOG 99.99 1 OTOGL 99.63 1 P2RX2 99.91 1 PAX3 99.98 1 PCDH15 99.94 1 PDE1C 99.92 1 PDZD7 99.82 1 PI4KB 99.55 1 PJVK 99.79 1 PLS1 99.80 1 PNPT1 99.86 1 POLR1B 99.95 1 POLR1C 97.52 1 POLR1D 99.72 1 POU3F4 99.94 1 POU4F3 100.00 1 PPIP5K2 99.83 1 PRPS1 99.79 1 PTPRQ 99.83 1 RDX 99.80 1 REST 99.96 1 RIPOR2 99.96 1 ROR1 98.58 1 S1PR2 100.00 1 SALL1 99.99 1 SEMA3E 99.97 1 SERPINB6 98.21 1 SIX1 100.00 1 SIX5 99.87 1 SLC12A2 98.96 1 SLC17A8 99.95 1 SLC22A4 99.96 1 SLC26A4 99.95 1 SLC26A5 99.95 1 SLC4A11 99.99 1 SLC7A8 99.99 1 SLITRK6 100.00 1 SMPX 99.37 1 SNAI2 99.98 1 SOX10 100.00 1 SPATC1L 100.00 1 SSBP1 99.99 1 STRC 99.73 1 SYNE4 100.00 1 TBC1D24 99.97 1 TCOF1 99.96 1 TECTA 99.97 1 THRAP3 99.89 1 TIMM8A 99.78 1 TJP2 99.94 1 TMC1 99.83 1 TMEM132E 99.75 1 TMIE 99.95 1 TMPRSS3 99.95 1 TMTC2 99.96 1 TNC 99.97 1 TPRN 90.56 1 TRIOBP 99.09 1 TSPEAR 99.97 1 TWNK 100.00 1 USH1C 98.72 1 USH1G 99.96 1 USH2A 99.95 1 USP48 99.80 1 WBP2 99.86 1 WFS1 100.00 1 WHRN 99.69 1 -
Myopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.64 1 ACAD9 99.97 1 ACADM 99.64 1 ACADS 100.00 1 ACADVL 99.94 1 ACTA1 99.99 1 ACTN2 99.96 1 ADSS1 99.99 1 AGK 99.98 1 AGL 99.92 1 AGRN 99.83 1 ALDOA 100.00 1 ALG14 99.97 1 ALG2 99.95 1 ANO5 99.96 1 ANXA11 99.88 1 ASCC1 91.38 1 ATP1A2 99.96 1 ATP2A1 99.97 1 B3GALNT2 94.03 1 B4GAT1 99.95 1 BAG3 100.00 1 BIN1 100.00 1 BVES 99.97 1 CACNA1S 99.92 1 CAP2 99.97 1 CAPN3 99.98 1 CASQ1 99.91 1 CAV3 99.85 1 CAVIN1 99.99 1 CFL2 99.81 1 CHAT 99.77 1 CHD7 99.96 1 CHKB 99.89 1 CHRNA1 99.96 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 99.95 1 CHRNG 99.87 1 CLCN1 99.97 1 CNBP 99.97 1 COL12A1 99.95 1 COL13A1 99.56 1 COL25A1 99.96 1 COL6A1 100.00 1 COL6A2 99.96 1 COL6A3 99.99 1 COLQ 99.97 1 COX6A2 98.51 1 CPT2 99.99 1 CRPPA 99.59 1 CRYAB 99.98 1 DAG1 100.00 1 DCST2 99.92 1 DES 100.00 1 DGUOK 99.76 1 DMD 99.41 1 DMPK 99.98 1 DNAJB6 99.91 1 DNM2 99.96 1 DNMT3B 99.98 1 DOK7 99.73 1 DPAGT1 99.96 1 DPM2 100.00 1 DPM3 100.00 1 DYSF 99.99 1 EMD 97.92 1 ENO3 99.98 1 ETFA 99.84 1 ETFDH 99.76 1 FAM111B 99.99 1 FDX2 99.94 1 FHL1 99.92 1 FKRP 99.99 1 FKTN 99.91 1 FLAD1 100.00 1 FLNC 99.99 1 FXR1 99.81 1 GAA 99.99 1 GBE1 99.84 1 GFER 99.96 1 GFPT1 99.90 1 GGPS1 99.89 1 GMPPB 99.95 1 GNE 99.98 1 GYG1 99.97 1 GYS1 99.98 1 HACD1 99.78 1 HADH 99.97 1 HADHA 99.96 1 HADHB 99.97 1 HNRNPA1 100.00 1 HNRNPA2B1 99.95 1 HNRNPDL 99.92 1 INPP5K 99.99 1 ISCU 99.94 1 ITGA7 99.98 1 ITGA9 99.80 1 JAG2 98.50 1 KBTBD13 100.00 1 KCNJ2 100.00 1 KIF21A 99.80 1 KLHL40 100.00 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 98.80 1 LAMA2 99.97 1 LAMB2 99.99 1 LAMP2 98.98 1 LARGE1 99.99 1 LDB3 98.02 1 LDHA 99.77 1 LIMS2 99.65 1 LMNA 99.98 1 LMOD3 99.96 1 LPIN1 99.97 1 LRP4 99.98 1 MAP3K20 99.92 1 MATR3 99.87 1 MB 99.99 1 MEGF10 99.90 1 MICU1 99.98 1 MLIP 99.94 1 MSTO1 98.87 1 MTM1 99.36 1 MUSK 99.97 1 MYBPC1 99.90 1 MYBPC3 99.98 1 MYH14 99.79 1 MYH2 99.97 1 MYH3 99.96 1 MYH7 100.00 1 MYL1 99.93 1 MYL2 99.98 1 MYMX 100.00 1 MYO18B 99.98 1 MYO9A 99.91 1 MYOD1 99.82 1 MYOT 99.98 1 MYPN 99.97 1 NEB 99.77 1 NPL 99.95 1 OPA1 99.87 1 ORAI1 97.73 1 PABPN1 99.67 1 PAX7 99.96 1 PFKM 99.82 1 PGAM2 100.00 1 PGK1 99.71 1 PGM1 99.89 1 PHKA1 99.57 1 PHKB 99.79 1 PHOX2A 96.75 1 PLEC 99.98 1 PNPLA2 99.99 1 PNPLA8 99.81 1 POGLUT1 99.91 1 POLG 99.98 1 POLG2 99.68 1 POMGNT1 99.98 1 POMGNT2 100.00 1 POMK 99.98 1 POMT1 99.91 1 POMT2 99.93 1 POPDC3 99.93 1 PREPL 99.96 1 PRKAG2 99.92 1 PYGM 99.98 1 PYROXD1 99.83 1 RAPSN 99.99 1 RBCK1 99.99 1 RXYLT1 99.53 1 RYR1 99.92 1 SCN4A 99.77 1 SELENON 95.81 1 SGCA 99.99 1 SGCB 99.62 1 SGCD 99.94 1 SGCG 99.87 1 SIL1 99.99 1 SLC18A3 100.00 1 SLC22A5 99.99 1 SLC25A20 99.90 1 SLC25A4 99.96 1 SLC5A7 99.97 1 SMCHD1 99.82 1 SMPX 99.37 1 SPEG 99.97 1 SQSTM1 100.00 1 STAC3 99.94 1 STIM1 99.97 1 SVIL 99.94 1 SYNE1 99.96 1 SYNE2 99.85 1 SYT2 99.89 1 TCAP 100.00 1 TIA1 99.56 1 TK2 99.99 1 TMEM126B 99.68 1 TMEM43 99.98 1 TNNC2 99.95 1 TNNI2 100.00 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.95 1 TNXB 99.95 1 TOP3A 99.95 1 TOR1AIP1 99.84 1 TPI1 99.95 1 TPM2 99.93 1 TPM3 99.95 1 TRAPPC11 99.59 1 TRDN 99.03 1 TRIM32 100.00 1 TRIP4 99.91 1 TRMT5 99.83 1 TTN 99.96 1 TUBB3 100.00 1 TWNK 100.00 1 UNC45B 99.93 1 VAMP1 99.70 1 VCP 99.92 1 VMA21 97.04 1 VWA1 91.35 1 -
Neuropathy (148 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD12 100.00 1 NM_001042472.3 AIFM1 100.00 1 NM_004208.4 APTX 100.00 1 NM_001195248.2 ARHGEF10 100.00 1 NM_014629.4 ATL1 100.00 1 NM_015915.5 ATP1A1 100.00 1 NM_000701.8 ATP7A 100.00 1 NM_000052.7 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 COX6A1 100.00 1 NM_004373.4 CTDP1 100.00 1 NM_004715.5 DCTN1 100.00 1 NM_004082.4 DHTKD1 100.00 1 NM_018706.7 DNAJB2 100.00 1 NM_006736.6 DNM2 100.00 1 NM_001005361.3 DNMT1 99.93 1 NM_001130823.3 DST 100.00 1 NM_001144770.2 DYNC1H1 100.00 1 NM_001376.5 EGR2 100.00 1 NM_000399.5 ELP1 100.00 1 NM_003640.5 FBLN5 100.00 1 NM_006329.3 FBXO38 100.00 1 NM_205836.3 FGD4 100.00 1 NM_001304480.1 FIG4 100.00 1 NM_014845.6 GAN 100.00 1 NM_022041.3 GARS1 100.00 1 NM_002047.4 GDAP1 100.00 1 NM_018972.4 GJB1 100.00 1 NM_000166.6 GJB3 100.00 1 NM_024009.3 GNB4 100.00 1 NM_021629.4 HARS1 100.00 1 NM_002109.6 HINT1 100.00 1 NM_005340.7 HK1 100.00 1 NM_001358263.1 HOXD10 100.00 1 NM_002148.4 HSPB1 100.00 1 NM_001540.5 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 IFRD1 100.00 1 NM_001007245.2 IGHMBP2 100.00 1 NM_002180.3 INF2 99.00 1 NM_022489.4 KARS1 100.00 1 NM_001130089.1 KIF1A 100.00 1 NM_001244008.1 KIF1B 100.00 1 NM_015074.3 KIF5A 100.00 1 NM_004984.4 LITAF 100.00 1 NM_001136472.1 LMNA 100.00 1 NM_170707.4 LRSAM1 100.00 1 NM_001005373.3 MARS1 100.00 1 NM_004990.4 MED25 100.00 1 NM_030973.3 MFN2 100.00 1 NM_014874.4 MME 100.00 1 NM_007289.4 MORC2 100.00 1 NM_001303256.3 MPZ 100.00 1 NM_000530.8 MTMR2 100.00 1 NM_016156.6 MYH14 100.00 1 NM_001145809.2 NAGLU 100.00 1 NM_000263.4 NDRG1 100.00 1 NM_006096.4 NEFH 100.00 1 NM_021076.4 NEFL 100.00 1 NM_006158.5 NGF 100.00 1 NM_002506.3 NTRK1 100.00 1 NM_002529.3 PDK3 100.00 1 NM_001142386.3 PEX1 100.00 1 NM_000466.3 PEX7 100.00 1 NM_000288.4 PHYH 100.00 1 NM_006214.4 PLEKHG5 100.00 1 NM_001265592.1 PMP22 100.00 1 NM_000304.4 POLG 100.00 1 NM_001126131.2 PRDM12 98.36 1 NM_021619.3 PRPS1 100.00 1 NM_002764.4 PRX 100.00 1 NM_181882.3 RAB7A 100.00 1 NM_004637.6 REEP1 100.00 1 NM_001371279.1 RETREG1 100.00 1 NM_001034850.2 SBF1 100.00 1 NM_002972.4 SBF2 100.00 1 NM_030962.3 SCN11A 100.00 1 NM_001349253.2 SCN9A 100.00 1 NM_001365536.1 SCO2 100.00 1 NM_005138.3 SETX 100.00 1 NM_015046.7 SH3TC2 100.00 1 NM_024577.4 SLC12A6 100.00 1 NM_001365088.1 SLC5A7 100.00 1 NM_021815.5 SOX10 100.00 1 NM_006941.4 SPG11 100.00 1 NM_025137.4 SPTLC1 100.00 1 NM_006415.4 SPTLC2 100.00 1 NM_004863.3 TDP1 100.00 1 NM_018319.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 TRIM2 100.00 1 NM_015271.5 TRPV4 100.00 1 NM_021625.5 TTR 100.00 1 NM_000371.4 TUBB3 100.00 1 NM_006086.4 TYMP 100.00 1 NM_001257989.1 VCP 100.00 1 NM_007126.5 WNK1 100.00 1 NM_018979.4 YARS1 100.00 1 NM_003680.3 AAAS 100.00 1 NM_015665.6 ALS2 100.00 1 NM_020919.4 ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 ATL3 100.00 1 NM_015459.5 CNTNAP1 100.00 1 NM_003632.3 COA8 100.00 1 NM_001370595.1 COL4A1 100.00 1 NM_001845.6 DCAF8 100.00 1 NM_015726.4 DCX 100.00 1 NM_001195553.2 ERBB4 100.00 1 NM_005235.3 FUS 100.00 1 NM_004960.4 GBF1 100.00 1 NM_004193.3 GCH1 100.00 1 NM_000161.3 GLA 100.00 1 NM_000169.3 HTRA1 100.00 1 NM_002775.5 KLC2 100.00 1 NM_001134775.1 MATR3 100.00 1 NM_018834.6 MCM3AP 100.00 1 NM_003906.5 MPV17 100.00 1 NM_002437.5 NEK1 100.00 1 NM_001199397.3 NFASC 100.00 1 NM_001005388.2 OPTN 100.00 1 NM_001008212.2 PDXK 100.00 1 NM_003681.5 PFN1 100.00 1 NM_005022.4 PMP2 100.00 1 NM_002677.5 PNKP 100.00 1 NM_007254.4 PRPH 100.00 1 NM_006262.4 PTRH2 100.00 1 NM_016077.5 SCN10A 100.00 1 NM_006514.3 SEPTIN9 100.00 1 NM_001113491.2 SGPL1 100.00 1 NM_003901.4 SIGMAR1 100.00 1 NM_005866.4 SLC25A46 100.00 1 NM_138773.4 SMN1 6.96 1 NM_000344.3 SOD1 100.00 1 NM_000454.5 SORD 94.98 1 NM_003104.6 SQSTM1 100.00 1 NM_003900.5 SURF1 100.00 1 NM_003172.4 SYT2 100.00 1 NM_177402.5 TARDBP 100.00 1 NM_007375.4 TIA1 100.00 1 NM_022173.4 TRPA1 100.00 1 NM_007332.3 TUBA1A 100.00 1 NM_006009.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 WARS1 100.00 1 NM_004184.4 -
Neuropathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.94 1 ABCA1 99.92 1 ABHD12 99.11 1 ADPRS 100.00 1 AGTPBP1 99.40 1 AIFM1 99.43 1 ARHGEF10 100.00 1 ARSA 100.00 1 ATL1 99.95 1 ATL3 99.86 1 ATM 99.83 1 ATP1A1 99.94 1 ATP7A 99.35 1 B4GALNT1 99.95 1 BAG3 100.00 1 BICD2 100.00 1 BSCL2 100.00 1 CADM3 99.94 1 CD59 99.97 1 CFAP276 99.73 1 CHCHD10 97.06 1 CLTCL1 99.98 1 CNTNAP1 99.80 1 COA7 100.00 1 COX20 99.40 1 COX6A1 99.99 1 CTDP1 98.02 1 CTNNB1 99.98 1 CYP27A1 99.96 1 DARS2 99.86 1 DCAF8 99.98 1 DCTN1 99.95 1 DGAT2 99.99 1 DGUOK 99.76 1 DHTKD1 99.88 1 DNAJB2 100.00 1 DNAJC3 99.58 1 DNM2 99.96 1 DNMT1 99.88 1 DRP2 99.45 1 DST 99.92 1 DYNC1H1 99.97 1 EGR2 100.00 1 ELP1 99.96 1 ETFDH 99.76 1 FBLN5 92.79 1 FBXO38 99.93 1 FGD4 99.89 1 FIG4 99.94 1 FLVCR1 99.93 1 FXN 97.92 1 GALC 99.88 1 GAN 99.84 1 GARS1 99.86 1 GBA2 99.97 1 GBE1 99.84 1 GBF1 99.95 1 GDAP1 99.93 1 GJB1 99.99 1 GJB3 100.00 1 GJC2 96.12 1 GLA 99.64 1 GNB4 99.95 1 GSN 97.83 1 HADHA 99.96 1 HADHB 99.97 1 HARS1 99.99 1 HINT1 99.96 1 HK1 96.86 1 HNRNPA1 100.00 1 HOXD10 100.00 1 HSPB1 99.83 1 HSPB3 100.00 1 HSPB8 99.90 1 IARS2 99.96 1 IFRD1 99.96 1 IGHMBP2 99.99 1 INF2 97.15 1 ITPR3 99.88 1 JAG1 99.92 1 KIF1A 99.96 1 KIF5A 99.93 1 LITAF 100.00 1 LMNA 99.98 1 LRSAM1 99.97 1 LYST 99.92 1 MCM3AP 99.96 1 MFN2 99.96 1 MMACHC 99.99 1 MME 97.69 1 MORC2 99.98 1 MPV17 100.00 1 MPZ 99.97 1 MTMR2 99.98 1 MTRFR 99.85 1 MYH14 99.79 1 NAGA 99.99 1 NAGLU 98.00 1 NARS1 99.74 1 NDRG1 100.00 1 NEFH 98.77 1 NEFL 99.99 1 NGF 99.99 1 NTRK1 99.67 1 PCYT2 97.60 1 PDK3 98.86 1 PEX7 99.87 1 PHYH 99.65 1 PIEZO2 99.88 1 PLD3 99.99 1 PLEKHG5 99.66 1 PLP1 99.93 1 PMM2 99.94 1 PMP2 99.95 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 POLG 99.98 1 POLR3B 99.88 1 PPOX 99.94 1 PRDM12 99.60 1 PRKCG 99.90 1 PRNP 100.00 1 PRPS1 99.79 1 PRX 99.94 1 PTEN 99.15 1 PTPN11 99.91 1 PTRH2 99.97 1 RAB7A 99.94 1 REEP1 99.99 1 RETREG1 99.92 1 RFC1 99.44 1 SACS 99.98 1 SBF1 99.97 1 SBF2 99.92 1 SCARB2 99.94 1 SCN10A 99.97 1 SCN11A 99.77 1 SCN9A 99.96 1 SCO2 100.00 1 SCYL1 99.64 1 SEPTIN9 99.94 1 SETX 99.96 1 SH3TC2 99.98 1 SIGMAR1 99.99 1 SLC12A6 99.88 1 SLC25A19 99.99 1 SLC25A46 99.93 1 SLC52A2 100.00 1 SLC52A3 100.00 1 SLC5A7 99.97 1 SORD 92.86 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 99.94 1 SPG7 99.99 1 SPTAN1 99.97 1 SPTBN4 99.19 1 SPTLC1 99.98 1 SPTLC2 99.94 1 SPTLC3 99.94 1 SURF1 97.64 1 SYT2 99.89 1 TBCE 99.69 1 TBCK 99.76 1 TECPR2 99.90 1 TFG 99.34 1 TRIM2 99.99 1 TRPV4 99.96 1 TTPA 99.97 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 UCHL1 99.99 1 VAPB 99.94 1 VCP 99.92 1 VPS13A 99.60 1 VRK1 99.94 1 VWA1 91.35 1 WARS1 99.79 1 WNK1 99.94 1 XRCC1 99.94 1 YARS1 99.96 1 ZFHX2 99.98 1 ZFYVE26 99.96 1