Table 1 Summary of neuromuscular disorders related genes included in the custom gene panel

CAPN3

15q15.1

114,240

Calpain-3

LGMD

AD/AR

NM_000070.2

COL6A1

21q22.3

120,220

Collagen type VI alpha 1

CMD

AD/AR

NM_001848.2

COL6A2

21q22.3

120,240

Collagen type VI alpha 2

CMD

AD/AR

NM_001849.3

COL6A3

2q37

120,250

Collagen type VI alpha 3

CMD

AD/AR

NM_004369.3

DMD

Xp21.2

300,377

Dystrophin

DMD/BMD

XLR

NM_004006.2

DNM2

19p13.2

602,378

Dynamin 2

CM/CMD and other NMDs

AD/AR

NM_001005360.2

DPM2

9q34.13

603,564

Dolichyl-phosphate mannosyltransferase 2, regulatory subunit

CDG/CMD

AR

NM_003863.3

EMD

Xq27.3-q28

300,384

Emerin

EDMD

XLR

NM_000117.2

FKRP

19q13.32

606,596

Fukutin related protein

CMD/LGMD

AR

NM_024301.4

FKTN

9q31.2

607,440

Fukutin

CMD/LGMD

AR

NM_001079802.1

ITGA7

12q13

600,536

Integrin alpha-7

CMD

AR

NM_002206.2

LAMA2

6q22-q23

156,225

Laminin alpha-2

CMD/LGMD

AR

NM_000426.3

LARGE

22q12.3

603,590

Acetylglucosaminyltransferase-like protein

CMD

AR

NM_004737.4

LMNA

1q22

150,330

Lamin A/C

EDMD /CMD/LGMD and other NMDs

AD/AR

NM_170707.3

PMM2

16p13

601,785

phosphomannomutase 2

CDG

AR

NM_000303.2

POMGNT1

1p34.1

606,822

Protein O-linked mannose N-acetylglucosaminyltransferase-1 (beta 1,2-)

CMD/LGMD

AR

NM_001243766.1

POMT1

9q34.1

607,423

Protein O-mannosyltransferase 1

CMD/LGMD

AR

NM_007171.3

POMT2

14q24

607,439

Protein O-mannosyltransferase 2

CMD/LGMD

AR

NM_013382.5

SEPN1/ SELENON

1p36.13

606,210

Selenoprotein N1

CM/CMD/LGMD

AD/AR

NM_020451.2

SGCA

17q21

600,119

Alpha-sarcoglycan

LGMD

AR

NM_000023.2

SGCB

4q12

600,900

Beta-sarcoglycan

LGMD

AR

NM_000232.4

SGCD

5q33.3

601,411

Delta-sarcoglycan

LGMD

AR

NM_000337.5

SGCG

13q12-q13

608,896

Gamma-sarcoglycan

LGMD

AR

NM_000231.2

TCAP

17q12

604,488

Titin-Cap (Telethonin)

LGMD/CMD

AR

NM_003673.3