Laboratory for Molecular Medicine 65 Landsdowne Street, Cambridge, MA 02139 Tel: 617-768-8500 / Fax: 617-768-8513 Email: [email protected] Panels (43 Genes) Available Panels Association Congenital Nemaline Myotubular/ Myofibrillar MyoGene Myopathy Myopathy Centronuclear Myopathy Non‐ Syndromes/Clinical Features Gene Panel (LGMD/EDMD) Inher. Synd Panel Panel Myopathy Panel Panel Synd (43 Genes) Panel (25 Genes) (14 Genes) (7 Genes) (5 Genes) (8 Genes) AD X ACTA1 X X X AD X Congenital fiber type disproportion ANO5 X X AR X LGMD Myofibrillar myopathy BAG3 X X AD X Cardiomyopathy (HCM, DCM) BIN1 X X X AR/AD X Centronuclear myopathy CAPN3 X X AR X LGMD AD X LGMD CAV3 X X AD X Long QT AD X HCM CFL2* X X X AR X Nemaline myopathy CRYAB X X AD/AR X Myofibrillar myopathy

DAG1 X X AD/AR X X Clinical spectrum may include LGMD, cognitive impairment, muscle‐eye‐brain ‐like phenotype

AD/AR X Myofibrillar myopathy DES X X X AD/AR X LGMD AD X Dilated cardiomyopathy Duchene/Becker muscular dystrophy DMD X XL X Female carriers may develop cardiomyopathy AD X LGMD DNAJB6 X X X AD X Myofibrillar myopathy Centronuclear myopathy DNM2 X X X AD X Charcot‐Marie‐Tooth disease DYSF X X AR X LGMD, Miyoshi muscular dystrophy EMD X X XL X Emery‐Dreifuss muscular dystrophy Emery‐Dreifuss muscular dystrophy XL X FHL1 X X X Reducing body myopathy XL X Myofibrillar myopathy Clinical spectrum may include LGMD, congenital muscular dystrophy, muscle‐eye‐brain disease, FKRP X X AR X X cobblestone lissencephaly Clinical spectrum may include LGMD, congenital muscular dystrophy, Fukuyama congenital muscular FKTN X X AR X X dystrophy FLNC X X AD X Myofibrillar myopathy Clinical spectrum may include LGMD, congenital muscular dystrophy, muscle‐eye‐brain disease, ISPD X X AR X cobblestone lissencephaly KLHL40 X X X AR X Nemaline myopathy Myofibrillar myopathy LDB3 X X AD X Dilated cardiomyopathy AD/AR X Emery‐Dreifuss muscular dystrophy LGMD Dilated cardiomyopathy LMNA X X AD X Charcot‐Marie‐Tooth disease Malouf syndrome Partial lipodystrophy MTM1 X X X XL X Centronuclear myopathy Myosin storage myopathy MYH7 X X AD X Laing distal myopathy Cardiomyopathy (HCM, DCM, LVNC, RCM) LGMD MYOT X X X AD X Myofibrillar myopathy NEB* X X X AR X Nemaline myopathy Clinical spectrum may include LGMD, epidermolysis bullosa with muscular dystrophy (more severe PLEC X X AR X X presentation is epidermolysis with pyloric atresia) Clinical spectrum may include LGMD, congenital muscular dystrophy, muscle‐eye‐brain disease, POMGNT1 X X AR X X cobblestone lissencephaly Clinical spectrum may include LGMD, congenital muscular dystrophy, muscle‐eye‐brain disease, POMT1 X X AR X X cobblestone lissencephaly Clinical spectrum may include LGMD, congenital muscular dystrophy, muscle‐eye‐brain disease, POMT2 X X AR X X cobblestone lissencephaly

Centronuclear myopathy. Carriers and affected individuals are at risk for malignant hyperthermia.

Congenital fiber type disproportion. Carriers and affected individuals are at risk for malignant AR X hyperthermia. RYR1X X X Multiminicore disease. Carriers and affected individuals are at risk for malignant hyperthermia.

AD/AR X . Carriers and affected individuals are at risk for malignant hyperthermia.

Multiminicore disease SEPN1* X X AR X Congenital fiber type disproportion Congenital muscular dystrophy, rigid spine syndrome SGCA X X AR X LGMD SGCB X X AR X LGMD SGCD X X AR X LGMD SGCG X X AR X LGMD TCAP X X AR X LGMD TNNT1* X X X AR X Nemaline myopathy Nemaline myopathy TPM2 X X X AD X Distal arthrogryposis Nemaline myopathy TPM3 X X X AD/AR X Congenital fiber type disproportion TRIM32 X X AR X LGMD HMERF AD X Dilated cardiomyopathy TTN* X X X X AD/AR X Tibial muscular dystrophy Centronuclear myopathy AR X LGMD *Please note a few exons have been excluded based on technical difficulties in capture. ** Inher. = Inheritance Pattern, Non‐Synd. = Non‐Syndromic, Synd. = Syndromic

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