Panel 43 · Neuromuscular
Charcot–Marie–Tooth Disease Panel
Hereditary motor and sensory neuropathies of the Charcot–Marie–Tooth spectrum.
Notes on this panel
Technical note. Approximately 50% of all CMT cases (CMT1A) are caused by a 1.5 Mb duplication of the PMP22 gene, while HNPP (hereditary neuropathy with liability to pressure palsies) is caused by a deletion of the same region. Although the copy-number variation (CNV) algorithm of the analysis platform in use performs well, planning PMP22 MLPA analysis before proceeding to the NGS panel — or concurrently with it — remains the gold standard in a patient presenting with a CMT phenotype. The PMP22 sequencing data included in the panel can only detect sequence-level variants (such as the rarely seen CMT1E).
Gene content
All 76 gene symbols in source order
- AARS
- AIFM1
- ARHGEF10
- ATL1
- BAG3
- BSCL2
- CCT5
- CHMP2B
- CTDP1
- DHTKD1
- DNAJB2
- DNM2
- DYNC1H1
- EGR2
- FBLN5
- FGD4
- FIG4
- GARS
- GDAP1
- GJB1
- GJB3
- HINT1
- HK1
- HOXD10
- HSPB1
- HSPB3
- HSPB8
- IGHMBP2
- INF2
- KARS
- KIF1A
- KIF1B
- KIF5A
- LITAF
- LMNA
- LRSAM1
- MED25
- MFN2
- MME
- MPZ
- MTMR2
- NDRG1
- NEFH
- NEFL
- NGF
- NTRK1
- PLEKHG5
- PMP22
- POLG
- PRNP
- PRPS1
- PRX
- RAB7A
- REEP1
- RETREG1
- SBF2
- SCN11A
- SCN9A
- SETX
- SH3TC2
- SLC12A6
- SLC5A7
- SPG11
- SPG7
- SPTLC1
- SPTLC2
- SURF1
- TFG
- TRPV4
- TTR
- TUBB3
- UBA1
- VCP
- VRK1
- WNK1
- YARS
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.