Panel 29 · Neuromuscular
Muscular Dystrophy Extended Panel
Extended neuromuscular panel for broad or atypical myopathic presentations.
Gene content
All 885 gene symbols in source order
- AASS
- ABAT
- ABCC9
- ABCD1
- ABHD5
- ABL1
- ACAD9
- ACADL
- ACADS
- ACADVL
- ACE
- ACHE
- ACTA1
- ACTA2
- ACTB
- ACTC1
- ACTG1
- ACTN1
- ACTN2
- ACTN4
- ACVR2A
- ACVR2B
- ADAM12
- ADCY3
- ADH1C
- ADIPOQ
- ADK
- ADSL
- AFF3
- AGA
- AGL
- AGPAT2
- AGRN
- AGTR1
- AGXT
- AHCY
- AHDC1
- AHSG
- AIFM1
- AIG1
- AK2
- AKT1
- ALB
- ALDOA
- ALG1
- ALG12
- ALG14
- ALG2
- ALG3
- ALG8
- ALK
- ALMS1
- ALPL
- ALS2
- AMPD1
- ANK1
- ANK2
- ANK3
- ANKRD1
- ANO10
- ANO3
- ANO5
- ANO6
- ANTXR1
- ANTXR2
- AP4M1
- AP5Z1
- APOE
- APP
- APPL1
- AQP1
- AQP4
- AR
- ARID1B
- ASPA
- ATG16L1
- ATIC
- ATM
- ATN1
- ATP2A1
- ATP2A2
- ATP7A
- ATP7B
- ATXN1
- ATXN10
- ATXN2
- ATXN3
- ATXN7
- B2M
- B3GALNT2
- B3GNT7
- B4GALT1
- B4GAT1
- BAG3
- BANF1
- BAZ1B
- BBS1
- BBS12
- BBS2
- BBS5
- BBS7
- BGN
- BIN1
- BMPR1B
- BMPR2
- BOLA3
- BSCL2
- BTD
- BUB1
- BUB1B
- C19orf12
- C1QB
- C1QC
- C9orf72
- CACNA1A
- CACNA1S
- CACNB4
- CALCRL
- CALM1
- CALM2
- CALM3
- CAMKMT
- CAPN10
- CAPN3
- CASK
- CASP10
- CASP2
- CASP8
- CAV1
- CAV3
- CAVIN1
- CAVIN4
- CBFB
- CBL
- CC2D2A
- CCR5
- CD207
- CD8A
- CDC42
- CDC42BPB
- CDH15
- CDKN1A
- CEP57
- CERS6
- CFL2
- CFLAR
- CHAT
- CHKB
- CHN1
- CHPF
- CHRND
- CHRNE
- CHRNG
- CKM
- CLCN1
- CLCN3
- CLCN5
- CLCN7
- CLN6
- CNBP
- CNR1
- CNTF
- COA5
- COG7
- COG8
- COL17A1
- COL25A1
- COL3A1
- COL4A1
- COL4A2
- COL4A3
- COL4A4
- COL5A2
- COL6A1
- COL6A2
- COL6A3
- COL8A2
- COL9A3
- COLEC11
- COLQ
- COMMD1
- COQ2
- COQ8A
- COQ9
- CORIN
- COX14
- CPS1
- CPT1A
- CPT2
- CREB1
- CREBBP
- CRYAA
- CRYAB
- CRYM
- CSRP3
- CST3
- CTCF
- CTHRC1
- CTNNB1
- CTNS
- CTSA
- CTSB
- CTSD
- CUL3
- CXCL12
- CXCR4
- CYBB
- CYP26B1
- CYP4V2
- D2HGDH
- DAG1
- DBH
- DCAF17
- DCTD
- DCTN1
- DCX
- DDX58
- DES
- DGKD
- DGUOK
- DHCR7
- DIS3L2
- DKC1
- DLD
- DMD
- DMGDH
- DMPK
- DNAJB2
- DNAJB6
- DNAJC30
- DNM2
- DNMT3B
- DOCK9
- DOK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DSG2
- DSP
- DST
- DTNA
- DTNBP1
- DUX4L9
- DYSF
- EBF3
- EDN1
- EDNRA
- EFEMP1
- EHD2
- EIF2AK2
- EIF2B4
- ELN
- ELP1
- EMD
- ENO3
- EP300
- EPB41
- ERBB3
- ETFDH
- EYA1
- FA2H
- FAH
- FAM13A
- FAS
- FASTKD2
- FBLN5
- FBN1
- FBN2
- FBXO11
- FDFT1
- FGF2
- FGFR1
- FGFR3
- FHL1
- FHL2
- FKBP14
- FKBP1A
- FKRP
- FKTN
- FLAD1
- FLNA
- FLNB
- FLNC
- FOXK1
- FOXO1
- FRAS1
- FRZB
- FST
- FUS
- FXN
- G6PD
- GAA
- GABRA2
- GAD1
- GALNT2
- GALNTL6
- GAMT
- GATAD1
- GATM
- GBE1
- GDAP1
- GDNF
- GFPT1
- GIGYF2
- GJA1
- GJA5
- GJB1
- GJB2
- GK
- GLRB
- GLUL
- GMPPA
- GMPPB
- GNAO1
- GNE
- GOSR2
- GPD2
- GPHN
- GRID2
- GSN
- GSTZ1
- GTF2I
- GTF2IRD1
- GYG1
- H6PD
- HADH
- HADHA
- HADHB
- HCN4
- HDAC4
- HDAC6
- HECW2
- HEXA
- HGF
- HIBCH
- HINT1
- HMBS
- HMGCR
- HNMT
- HNRNPK
- HSPB6
- HSPB8
- HSPD1
- HSPG2
- HTRA1
- HTRA2
- HTT
- IDUA
- IFNG
- IFT172
- IGF1
- IGF2
- IGFBP7
- IGHMBP2
- IKBKB
- IKBKG
- IL10
- IL1B
- IL1RAPL1
- IL4
- IL6
- IL6ST
- INPP5E
- INS
- INSR
- IQGAP3
- IRF1
- ISCU
- ISL1
- ISPD
- ITCH
- ITGA7
- ITGB4
- ITM2B
- ITPR1
- JAG2
- JPH3
- JUP
- KBTBD13
- KCNA1
- KCNE3
- KCNE4
- KCNIP4
- KCNJ10
- KCNJ13
- KCNJ18
- KCNK3
- KCNMA1
- KCNN3
- KDM3A
- KDR
- KIAA0232
- KIF1A
- KIF1B
- KIT
- KMT5B
- KYNU
- L2HGDH
- LAMA1
- LAMA2
- LAMA3
- LAMA4
- LAMB1
- LAMB2
- LAMB3
- LAMC2
- LAMP2
- LAMTOR3
- LARGE1
- LARGE2
- LCLAT1
- LDB3
- LDHA
- LDLR
- LEMD3
- LEP
- LIAS
- LIF
- LIMK1
- LMNA
- LMNB1
- LMNB2
- LOX
- LPIN1
- LPL
- LRP2
- LRPPRC
- LTBP1
- LTBP4
- MAOA
- MAP2
- MAP2K2
- MAPK1
- MAPK10
- MARS2
- MAT1A
- MATN3
- MATR3
- MBD5
- MBNL1
- MECP2
- MEF2C
- MEGF10
- MFF
- MFN2
- MFSD8
- MGP
- MGST3
- MICU1
- MIR222
- MMADHC
- MME
- MMP1
- MMP14
- MMP2
- MMP3
- MMP9
- MOGS
- MPV17
- MPZ
- MRPL44
- MSTN
- MSTO1
- MSX1
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND3
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TE
- MT-TF
- MT-TH
- MT-TK
- MT-TL1
- MT-TL2
- MT-TN
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TW
- MTAP
- MTM1
- MTMR14
- MTOR
- MUSK
- MVK
- MYBPC1
- MYBPC3
- MYF5
- MYF6
- MYH13
- MYH14
- MYH2
- MYH3
- MYH6
- MYH7
- MYH8
- MYL2
- MYO7B
- MYOD1
- MYOM1
- MYOT
- MYOZ2
- MYPN
- MYT1L
- NAIP
- NALCN
- NARS2
- NAT8L
- NBAS
- NCKAP1
- NDST3
- NDUFA10
- NDUFAF7
- NDUFB3
- NDUFS1
- NEB
- NEBL
- NEFH
- NEFL
- NEFM
- NEK1
- NEU1
- NEU2
- NEURL2
- NEXN
- NFKBIA
- NFU1
- NKX2-1
- NKX2-5
- NLRP3
- NOP56
- NOS1
- NOS1AP
- NOS3
- NOTCH1
- NOTCH3
- NPAS2
- NPC1
- NPHP1
- NPPA
- NR0B1
- NR3C1
- NR3C2
- NR4A2
- NR5A1
- NRG1
- NRP2
- NRXN1
- NRXN2
- NRXN3
- NSUN2
- OAT
- OBSCN
- OBSL1
- OCRL
- ODC1
- OPHN1
- OPTN
- ORAI1
- OTC
- P2RX1
- PABPN1
- PAFAH1B1
- PAH
- PALLD
- PASK
- PAX3
- PAX7
- PAX8
- PCCB
- PDE11A
- PDGFB
- PDGFRA
- PDGFRB
- PDK1
- PDLIM3
- PECR
- PEX6
- PFKM
- PGAM2
- PGK1
- PGK1P2
- PGM1
- PHGDH
- PHKA1
- PIGA
- PIGN
- PIGT
- PIK3CA
- PIK3R1
- PIK3R2
- PIK3R5
- PIKFYVE
- PINK1
- PITX1
- PITX2
- PKP1
- PKP2
- PLA2G2A
- PLA2G6
- PLAU
- PLCB1
- PLEC
- PLEKHG5
- PLN
- PLOD3
- PLP1
- PLP2
- PMM2
- PMP22
- PNKP
- PNPLA2
- PNPT1
- POLG
- POLG2
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PPA2
- PPCS
- PPM1B
- PPM1K
- PPP1CB
- PPP2R2B
- PPP3CA
- PPP3R1
- PQBP1
- PRDM16
- PRDM5
- PREPL
- PRKACA
- PRKAG2
- PRKG2
- PRKN
- PRKRA
- PRNP
- PROKR1
- PROM1
- PRSS12
- PRSS56
- PRX
- PSAT1
- PSEN1
- PSEN2
- PTEN
- PTGS2
- PTPN1
- PURA
- PUS1
- PYGM
- QDPR
- RAB3GAP1
- RAB40AL
- RAF1
- RANBP2
- RAP1GDS1
- RAPSN
- RARA
- RASGEF1B
- RBM20
- RBPJ
- RCHY1
- REEP1
- RELN
- RGPD8
- RPIA
- RPL10
- RPL11
- RRM2B
- RXRA
- RXYLT1
- RYR1
- RYR2
- SACS
- SAMHD1
- SARS2
- SATB2
- SCARB2
- SCN1A
- SCN2A
- SCN3A
- SCN4A
- SCN5A
- SCN7A
- SCN9A
- SCO2
- SDC3
- SDHA
- SECISBP2
- SELENON
- SEPSECS
- SERPINA1
- SERPINE1
- SETX
- SGCA
- SGCB
- SGCD
- SGCE
- SGCG
- SHOX
- SHROOM3
- SI
- SIL1
- SIRT1
- SIX1
- SIX3
- SIX5
- SLC11A1
- SLC16A1
- SLC17A5
- SLC19A3
- SLC1A1
- SLC1A5
- SLC25A12
- SLC25A13
- SLC25A20
- SLC25A4
- SLC26A1
- SLC2A1
- SLC2A9
- SLC30A2
- SLC30A8
- SLC34A2
- SLC35A1
- SLC3A1
- SLC40A1
- SLC4A1
- SLC4A10
- SLC4A3
- SLC4A4
- SLC52A1
- SLC52A2
- SLC52A3
- SLC5A7
- SLC8A1
- SLC9A3R1
- SLC9A6
- SMAD1
- SMARCA4
- SMARCAL1
- SMCHD1
- SMG1
- SMN1
- SMN2
- SNCA
- SNTA1
- SOD1
- SOD2
- SOS1
- SPART
- SPAST
- SPATA5
- SPEF2
- SPEG
- SPG7
- SPP1
- SPR
- SPRED2
- SPTAN1
- SPTB
- SPTBN1
- SQSTM1
- SRD5A3
- SREBF1
- SSPN
- ST3GAL5
- ST6GAL2
- STARD9
- STAT3
- STEAP3
- STIM1
- STK36
- STRN
- STT3A
- SUCLA2
- SUCLG1
- SUCO
- SYN1
- SYNE1
- SYNE2
- SYNM
- TARDBP
- TBCK
- TBK1
- TBR1
- TCAP
- TCF4
- TET2
- TFG
- TFPI
- TGFB1
- TGFB2
- TGFBR2
- TGM2
- THBS1
- TK2
- TLR2
- TLR3
- TLR4
- TMEM127
- TMEM165
- TMEM237
- TMEM43
- TMPO
- TMTC3
- TNFRSF13B
- TNFRSF1A
- TNNC1
- TNNI3
- TNNI3K
- TNNT1
- TNNT2
- TNNT3
- TNPO3
- TOR1A
- TP53RK
- TP63
- TPM1
- TPM2
- TPM3
- TRDN
- TRIM32
- TRIP12
- TRIP13
- TRMU
- TRPC3
- TRPV4
- TSEN54
- TSFM
- TTC19
- TTC7A
- TTN
- TTR
- TUBA1A
- TUBB4B
- TWNK
- TXNIP
- TYMP
- UBE3A
- UBR1
- UBR3
- UCHL1
- UCP1
- UGGT1
- UGT1A1
- UNC5C
- UNC80
- UTRN
- VAPB
- VCL
- VCP
- VDR
- VEGFA
- VEGFC
- VIM
- VLDLR
- VMA21
- VPS13A
- WDPCP
- WDR19
- WDR35
- WDR81
- WFS1
- WNT7A
- WRN
- XK
- XRCC6
- XYLT1
- YARS
- YARS2
- YY1
- ZC4H2
- ZEB2
- ZMPSTE24
Gene symbols are reproduced from the department’s current NGS panel source document (PANEL LİSTESİ V9), in source order. No symbol has been added, removed, renamed or expanded, and none has been reconciled against an earlier edition of the catalogue or against an external gene database. Panel titles, gene counts and gene content are published as confirmed by the department. Panel composition may be revised; the version in force at the time of testing applies.