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

From: Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

Gene Locus Gene MIM number Protein Disease association Mode of inheritance Transcript
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
  1. AD: autosomal dominant; AR: autosomal recessive; XLR: X linked recessive; LGMD: Limb-Girdle muscular dystrophy; CMD: Congenital muscular dystrophy; DMD: Duchenne muscular dystrophy; BMD: Becker muscular dystrophy; CM: Congenital myopathy; NMDs: Neuromuscular disorders; CDG: Congenital disorder of glycosylation; EDMD: Emery-Dreifuss muscular dystrophy. Cytogenetic location of genes was done according to the human reference genome-GRCh37 (hg19)