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Table 4 Interesting patients; examples to highlight the added value of gene panel testing

From: Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Patient Phenotype Gene and RefSeq Transcript Variant Pathogenicity class Reference
1 CMT2 PMP22 NM_000304.2 c.353C > T p.(Thr118Met) C5 [2528]
GJB1 NM_000166.5 c.-17G > A p.? C5 [35]
2 CMT2 PMP22 NM_000304.2 c.353C > T p.(Thr118Met) C5 [2528]
PMP22 NM_000304.2 c.281delG p.(Gly94Alafs*17) C5 [3638]
3 HMN PMP22 NM_000304.2 c.353C > T p.(Thr118Met) C5 [2528]
REEP1 NM_001164730.1 c.*50G > A p.? C5 [39]
DYNC1H1 NM_001376.4 c.3500 T > A p.(Val1167Glu) C4 This study
4 HMN PMP22 NM_000304.2 c.353C > T p.(Thr118Met) C5 [2528]
GARS NM_002047.2 c.485A > G p.(His162Arg) C4 This study
5 HSN PMP22 NM_000304.2 c.353C > T p.(Thr118Met) C5 [2528]
6 CMT2 MFN2 NM_014874.3 c.1403G > A p.(Arg468His) C5 [2931]
MFN2 NM_014874.3 c.809 T > C p.(Met270Thr) C3 This study
MFN2 NM_014874.3 c.1029_1032delGAG p.(Arg344del) C3 This study
7 HMN MFN2 NM_014874.3 c.1403G > A p.(Arg468His) C5 [2931]
8 CMT1 MFN2 NM_014874.3 c.1403G > A p.(Arg468His) C5 [2931]
9 CMT1 MFN2 NM_014874.3 c.2119A > G p.(Arg707Trp) C5 [31]
10 CMT2 PMP22 NM_000304.2 c.448G > C p.(Gly150Arg) C4 This study
11 CMT2 PMP22 NM_000304.2 c.(?_-1)_(*1_?) del p.0 C5 [40]
12 CMT1 AARS NM_001605.2 c.986G > A p.(Arg329His) C5 [41]
13 HMN PMP22 NM_000304.2 c.185 T > G p.(Leu62Arg) C4 This study
MED25 NM_030973.3 c.1004C > T p.(Ala335Val) C5 [42]
14 CMT2 PMP22 NM_000304.2 c.(?_-1)_(*1_?) dup p.(=) dup C5 [43]
SCN9A NM_002977.3 c.3369G > T p.(Leu1123Phe) C4 This study
15 CMT complex PMP22 NM_000304.2 c.(?_-1)_(*1_?) dup p.(=) dup C5 [43]
SH3TC2 NM_024577.3 c.505 T > C p.(Tyr169His) C5 [4]
MFN2 NM_014874.3 c.1936G > A p.(Val646Ile) C3 This study
16 CMT2 SH3TC2 NM_024577.3 c.505 T > C p.(Tyr169His) C5 [4]
GDAP1 NM_018972.2 c.501dupA p.(Glu168Argfs*3) C4 This study
17 HSN RAB7 NM_004637.5 c.484G > A p.(Val162Met) C5 [32]
SPTLC2 NM_004863.3 c.1142 T > C p.(Phe381Ser) C4 This study