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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

[25–28]

GJB1

NM_000166.5

c.-17G > A

p.?

C5

[35]

2

CMT2

PMP22

NM_000304.2

c.353C > T

p.(Thr118Met)

C5

[25–28]

PMP22

NM_000304.2

c.281delG

p.(Gly94Alafs*17)

C5

[36–38]

3

HMN

PMP22

NM_000304.2

c.353C > T

p.(Thr118Met)

C5

[25–28]

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

[25–28]

GARS

NM_002047.2

c.485A > G

p.(His162Arg)

C4

This study

5

HSN

PMP22

NM_000304.2

c.353C > T

p.(Thr118Met)

C5

[25–28]

6

CMT2

MFN2

NM_014874.3

c.1403G > A

p.(Arg468His)

C5

[29–31]

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

[29–31]

8

CMT1

MFN2

NM_014874.3

c.1403G > A

p.(Arg468His)

C5

[29–31]

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

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BMC Medical Genetics

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