Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABHD5 gene ABHD5 Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, OMIM:275630 33455044 False 3 100;0;0 5.41 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACADVL gene ACADVL Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475;metabolic myopathy;rhabdomyolsis 7668252;27246109;25929793 False 3 100;0;0 5.41 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTN2 gene ACTN2 Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, distal, 6, adult onset, OMIM:618655 30900782;34170073;34386585;34471957;36116040;38311799 False 3 100;0;0 5.41 False ENSG00000077522 ENSG00000077522 HGNC:164 ANO5 gene ANO5 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Gnathodiaphyseal dysplasia, 166260;Muscular dystrophy, limb-girdle, type 2L, 611307;Miyoshi muscular dystrophy 3, 613319;Limb-girdle muscular dystrophy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy 20096397 False 3 100;0;0 5.41 False ENSG00000171714 ENSG00000171714 HGNC:27337 BAG3 gene BAG3 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 6, 612954 19085932;20605452 False 3 100;0;0 5.41 True ENSG00000151929 ENSG00000151929 HGNC:939 BVES gene BVES Expert Review Green;Literature;NHS GMS;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2X, 616812;limb girdle muscular dystrophy;cardiac arrhythmia 26642364;31119192;32528171 False 3 43;14;43 5.41 False ENSG00000112276 ENSG00000112276 HGNC:1152 CAPN3 gene CAPN3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600;Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 28881388;31937337;32342993;32557990;32896923;32994280 False 3 100;0;0 5.41 False ENSG00000092529 ENSG00000092529 HGNC:1480 CAV3 gene CAV3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rippling muscle disease 2, OMIM:606072;Myopathy, distal, Tateyama type, OMIM:614321 http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000182533 ENSG00000182533 HGNC:1529 CIAO1 gene CIAO1 Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 3 100;0;0 5.41 False ENSG00000144021 ENSG00000144021 HGNC:14280 COL6A1 gene COL6A1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 False 3 0;0;0 5.41 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Bethlem myopathy 1 158810" False 3 100;0;0 5.41 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 False 3 0;0;0 5.41 False ENSG00000163359 ENSG00000163359 HGNC:2213 CPT2 gene CPT2 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 1528846;8651281 False 3 100;0;0 5.41 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 2, OMIM:608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 11577372 False 3 100;0;0 5.41 False ENSG00000109846 ENSG00000109846 HGNC:2389 DAG1 gene DAG1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818;Limb girdle muscular dystrophy;congenital muscular dystrophy;Limb-girdle muscular dystrophy 25503980;25503980;29036200;21388311;14678799;30055862 False 3 50;50;0 5.41 True ENSG00000173402 ENSG00000173402 HGNC:2666 DES gene DES Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2R, 615325;myofibrillar myopathy;cardiomyopathy;limb girdle muscular dystrophy 23687351;11073539;19433360;10545598 False 3 60;20;20 5.41 False Other ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Eligibility statement prior genetic testing;Expert Review Green Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Duchenne muscular dystrophy 310200;Becker muscular dystrophy 300376" False 3 100;0;0 5.41 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJB6 gene DNAJB6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Limb-Girdle Muscular Dystrophy, Dominant;Muscular dystrophy, limb-girdle, type 1E, 603511 PubMed: 22366786 False 3 100;0;0 5.41 False ENSG00000105993 ENSG00000105993 HGNC:14888 DOK7 gene DOK7 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome;Limb-girdle muscular dystrophy 19261599 False 3 100;0;0 5.41 True ENSG00000175920 ENSG00000175920 HGNC:26594 DYSF gene DYSF Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130;Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000135636 ENSG00000135636 HGNC:3097 EMD gene EMD Expert Review;Expert Review Green Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Emery-Dreifuss muscular dystrophy 1, X-linked 310300" False 3 0;0;0 5.41 False ENSG00000102119 ENSG00000102119 HGNC:3331 FHL1 gene FHL1 Expert Review;Expert Review Green Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Emery-Dreifuss muscular dystrophy False 3 0;0;0 5.41 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKRP gene FKRP Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800;Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152;Cardiomyopathy, dilated, 1X, 611615;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLNC gene FLNC Emory Genetics Laboratory;Expert Review Green;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, distal, 4, OMIM:614065;Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 15929027;17412757;19050726;22806379 False 3 100;0;0 5.41 False ENSG00000128591 ENSG00000128591 HGNC:3756 GAA gene GAA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300" False 3 100;0;0 5.41 False ENSG00000171298 ENSG00000171298 HGNC:4065 GMPPB gene GMPPB Expert Review Green;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 28456886;27874200;25681410;26133662;23768512 False 3 100;0;0 5.41 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, 605820;Distal myopathy;Limb girdle muscular dystrophy;Limb-girdle muscular dystrophy;quadriceps sparing myopathy;distal myopathy;Nonaka myopathy, HIBM 22883483;24695763 False 3 40;20;40 5.41 True ENSG00000159921 ENSG00000159921 HGNC:23657 HMGCR gene HMGCR Expert Review;Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375 37167966;36745799 False 3 100;0;0 5.41 False ENSG00000113161 ENSG00000113161 HGNC:5006 HNRNPDL gene HNRNPDL Expert Review Green;Literature;NHS GMS;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, type 1G 609115;Limb girdle muscular dystrophy 24647604;15367920;30055862 False 3 50;25;25 5.41 True ENSG00000152795 ENSG00000152795 HGNC:5037 ISPD gene ISPD Emory Genetics Laboratory;Expert Review Green;NHS GMS;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052;congenital muscular dystrophy;limb girdle muscular dystrophy 23390185;23288328 False 3 60;40;0 5.41 True ENSG00000214960 ENSG00000214960 HGNC:37276 JAG2 gene JAG2 Expert Review Green;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 33861953;39121631;39649397 False 3 100;0;0 5.41 False ENSG00000184916 ENSG00000184916 HGNC:6189 LAMA2 gene LAMA2 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855;congenital muscular dystroph 12552556;7550355 False 3 100;0;0 5.41 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMP2 gene LAMP2 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, 300257 10972294 False 3 100;0;0 5.41 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Emery-Dreifuss muscular dystrophy 2, AD, 181350; Limb-girdle muscular dystrophy False 3 100;0;0 5.41 False ENSG00000160789 ENSG00000160789 HGNC:6636 LPIN1 gene LPIN1 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, 268200;myoglobinuria;exercise induced myopathy 18817903;22481384 False 3 100;0;0 5.41 True ENSG00000134324 ENSG00000134324 HGNC:13345 MTM1 gene MTM1 Expert list;Expert Review;Expert Review Green;Literature;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Myopathy, centronuclear, X-linked, OMIM:310400 9305655;9285787 False 3 100;0;0 5.41 False ENSG00000171100 ENSG00000171100 HGNC:7448 MYH7 gene MYH7 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing distal myopathy, OMIM:160500;Myopathy, myosin storage, autosomal dominant, OMIM:608358;Myopathy, myosin storage, autosomal recessive, OMIM:255160;Scapuloperoneal syndrome, myopathic type, OMIM:181430 15322983;20733148;25666907;17372140;31130376 False 3 100;0;0 5.41 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYOT gene MYOT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 67;33;0 5.41 False ENSG00000120729 ENSG00000120729 HGNC:12399 ORAI1 gene ORAI1 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2, 615883 False 3 50;50;0 5.41 True ENSG00000182500 ENSG00000276045 HGNC:25896 PFKM gene PFKM Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, 232800 7603526 False 3 67;33;0 5.41 True ENSG00000152556 ENSG00000152556 HGNC:8877 PHKA1 gene PHKA1 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 2252364;7874115 False 3 100;0;0 5.41 True ENSG00000067177 ENSG00000067177 HGNC:8925 PLEC gene PLEC Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723;Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000178209 ENSG00000178209 HGNC:9069 PNPLA2 gene PNPLA2 Expert list;Expert Review Green;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 18952067;21544567;25956450;32269696 False 3 100;0;0 5.41 False ENSG00000177666 ENSG00000177666 HGNC:30802 POMGNT1 gene POMGNT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-girdle muscular dystrophy False 3 100;0;0 5.41 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830;limb girdle muscular dystrophy 27066570 False 3 50;50;0 5.41 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMT1 gene POMT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-girdle muscular dystrophy False 3 100;0;0 5.41 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Limb-girdle muscular dystrophy False 3 100;0;0 5.41 False ENSG00000009830 ENSG00000009830 HGNC:19743 POPDC3 gene POPDC3 Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848;muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014 31610034;35075722;35842834;37104941 False 3 75;25;0 5.41 False ENSG00000132429 ENSG00000132429 HGNC:17649 PYGM gene PYGM Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal McArdle disease, 232600 8316268;12666117 False 3 100;0;0 5.41 False ENSG00000068976 ENSG00000068976 HGNC:9726 PYROXD1 gene PYROXD1 Expert list;Expert Review Green;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8, 617258;adult-onset limb girdle muscular dystrophy 27745833;30345904;30515627;33694278 False 3 50;50;0 5.41 False ENSG00000121350 ENSG00000121350 HGNC:26162 RYR1 gene RYR1 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuromuscular disease, congenital, with uniform type 1 fiber, 117000;Central core disease, 117000;congenital myopathy;malignant hyperthermia 8220422;8220423 False 3 100;0;0 5.41 True ENSG00000196218 ENSG00000196218 HGNC:10483 SELENON gene SELENON Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, OMIM:602771 11528383;15122708;15668457;27863379;28558865;29850975;30642275;32796131 False 3 75;25;0 5.41 False ENSG00000162430 ENSG00000162430 HGNC:15999 SGCA gene SGCA Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2D, 608099; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy, limb-girdle, type 2E, 604286; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy, limb-girdle, type 2F, 601287; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy, limb-girdle, type 2C, 253700; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000102683 ENSG00000102683 HGNC:10809 SMCHD1 gene SMCHD1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901;facioscapulohumeral muscular dystrophy 2, MONDO:0008031 23143600;24075187;31600781 False 3 71;14;14 5.41 False ENSG00000101596 ENSG00000101596 HGNC:29090 SNUPN gene SNUPN Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793 38366623;38413582 False 3 100;0;0 5.41 False ENSG00000169371 ENSG00000169371 HGNC:14245 STIM1 gene STIM1 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 1, 160565 False 3 25;75;0 5.41 True ENSG00000167323 ENSG00000167323 HGNC:11386 SYNE1 gene SYNE1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998" False 3 0;0;0 5.41 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNE2 gene SYNE2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 17761684;20301609 False 3 60;20;20 5.41 False ENSG00000054654 ENSG00000054654 HGNC:17084 TCAP gene TCAP Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy, limb-girdle, type 2G, 601954; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000173991 ENSG00000173991 HGNC:11610 TNNI1 gene TNNI1 Expert Review Green;Literature;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease 38569017;34934811 False 3 100;0;0 5.41 False ENSG00000159173 ENSG00000159173 HGNC:11945 TNPO3 gene TNPO3 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 False 3 50;50;0 5.41 False ENSG00000064419 ENSG00000064419 HGNC:17103 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072;Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 24856141;27342937;30723199;31299614;32055997 False 3 100;0;0 5.41 False ENSG00000143337 ENSG00000143337 HGNC:29456 TRAPPC11 gene TRAPPC11 Expert Review Green;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2S, 615356 23830518;27707803 False 3 0;0;0 5.41 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy, limb-girdle, type 2H, 254110; Limb-girdle muscular dystrophy http://www.ncbi.nlm.nih.gov/books/NBK1408/ False 3 100;0;0 5.41 False ENSG00000119401 ENSG00000119401 HGNC:16380 TTN gene TTN Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2J, 608807;Limb girdle muscular dystrophy;Distal myopathy;Myofibrillar myopathy;Congenital myopathy;dilated cardiomyopathy;HMERF;arthrogryposis 26392295;12145747;25772186;26392295;26581302;28716623 False 3 60;20;20 5.41 False Other ENSG00000155657 ENSG00000155657 HGNC:12403 VCP gene VCP Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320" 15034582;18341608;21984748;21145000 False 3 0;0;0 5.41 False ENSG00000165280 ENSG00000165280 HGNC:12666 VMA21 gene VMA21 Expert Review;Expert Review Green;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, X-linked, with excessive autophagy, 310440;X-Linked myopathy with excessive autophagy 23315026;19379691 False 3 100;0;0 5.41 False ENSG00000160131 ENSG00000160131 HGNC:22082 ANXA11 gene ANXA11 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, OMIM:619733;inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 34048612;36134701;36651622;40730020 False 2 100;0;0 5.41 False ENSG00000122359 ENSG00000122359 HGNC:535 CASQ1 gene CASQ1 Expert Review;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 26136523;28895244;29039140;30258016;34908252;36514469 False 2 50;50;0 5.41 False ENSG00000143318 ENSG00000143318 HGNC:1512 DPM3 gene DPM3 Expert Review;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937;DPM3-congenital disorder of glycosylation, MONDO:0013049;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992;muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 19576565;28803818;31266720 False 2 75;25;0 5.41 True ENSG00000179085 ENSG00000179085 HGNC:3007 GUK1 gene GUK1 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071 39230499 False 2 100;0;0 5.41 False ENSG00000143774 ENSG00000143774 HGNC:4693 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949 34291734;34722876;35550112;39072769 False 2 100;0;0 5.41 False ENSG00000135486 ENSG00000135486 HGNC:5031 LRIF1 gene LRIF1 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 5.41 False ENSG00000121931 ENSG00000121931 HGNC:30299 PABPN1 gene PABPN1 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116 16648376;21742497;34225694;36847015 False 2 100;0;0 5.41 False ENSG00000100836 ENSG00000100836 HGNC:8565 POGLUT1 gene POGLUT1 Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232;autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 27807076;29034878;31897643;33861953 False 2 100;0;0 5.41 False ENSG00000163389 ENSG00000163389 HGNC:22954 RDH11 gene RDH11 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;34988992;41459630;41904678 False 2 100;0;0 5.41 False ENSG00000072042 ENSG00000072042 HGNC:17964 SRPK3 gene SRPK3 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Slowly progressive myopathy, digenic 16140986;38429495;39667923 False 2 100;0;0 5.41 False ENSG00000184343 ENSG00000184343 HGNC:11402 SVIL gene SVIL Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 False 2 0;100;0 5.41 False ENSG00000197321 ENSG00000197321 HGNC:11480 TK2 gene TK2 Expert Review Amber;NHS GMS Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 22345218;23303857;24198295;25948719;35280287;37527940;38544965;40098049 False 2 100;0;0 5.41 False ENSG00000166548 ENSG00000166548 HGNC:11831 ACTA1 gene ACTA1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, scapulohumeroperoneal, 616852 25938801 False 1 50;0;50 5.41 False ENSG00000143632 ENSG00000143632 HGNC:129 AGL gene AGL Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIb, 232400;Glycogen storage disease IIIc, 232400 8755644;8990006 False 1 50;0;50 5.41 False ENSG00000162688 ENSG00000162688 HGNC:321 ATP2A1 gene ATP2A1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, 601003 8841193;9367679 False 1 50;0;50 5.41 False ENSG00000196296 ENSG00000196296 HGNC:811 CHRND gene CHRND Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 3A, slow-channel, 616321;Congenital myasthenic syndrome 11782989 False 1 50;0;50 5.41 False ENSG00000135902 ENSG00000135902 HGNC:1965 CLCN1 gene CLCN1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonia congenita, dominant, 160800 8112288;7981750 False 1 50;0;50 5.41 False ENSG00000188037 ENSG00000188037 HGNC:2019 COL12A1 gene COL12A1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ullrich congenital muscular dystrophy 2, 616470;Bethlem myopathy 24334604 False 1 50;0;50 5.41 False ENSG00000111799 ENSG00000111799 HGNC:2188 COLQ gene COLQ Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, 603034;Congenital myasthenic syndrome 9689136 False 1 50;0;50 5.41 False ENSG00000206561 ENSG00000206561 HGNC:2226 DNM2 gene DNM2 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 1, 160150;Centronuclear myopathy 17932957 False 1 50;0;50 5.41 False ENSG00000079805 ENSG00000079805 HGNC:2974 DUX4 gene DUX4 Expert Review;Expert Review Red;NHS GMS;South West GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy, 158900 False 1 0;33;67 5.41 True Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 ETFDH gene ETFDH Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, 231680;Glutaric acidemia IIA, 231680;Glutaric acidemia IIB, 231680 17412732 False 1 50;0;50 5.41 True ENSG00000171503 ENSG00000171503 HGNC:3483 GBE1 gene GBE1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 8613547 False 1 50;0;50 5.41 True ENSG00000114480 ENSG00000114480 HGNC:4180 GFPT1 gene GFPT1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, 610542;Congenital myasthenic syndrome 21310273 False 1 50;0;50 5.41 True ENSG00000198380 ENSG00000198380 HGNC:4241 GYG1 gene GYG1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV, 613507 20357282 False 1 50;0;50 5.41 True ENSG00000163754 ENSG00000163754 HGNC:4699 LIMS2 gene LIMS2 Expert Review Red;Literature;NHS GMS;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2W, 616827;limb girdle muscular dystrophy;cardiomyopathy;triangular tongue 25589244 False 1 20;20;60 5.41 True ENSG00000072163 ENSG00000072163 HGNC:16084 MATR3 gene MATR3 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 21, 606070;ALS;myofibrillar myopathy 19344878 False 1 50;0;50 5.41 True ENSG00000015479 ENSG00000015479 HGNC:6912 MYH14 gene MYH14 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 21480433 False 1 50;0;50 5.41 True ENSG00000105357 ENSG00000105357 HGNC:23212 NEB gene NEB Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, 256030;congenital myopathy 9359044;12207937 False 1 50;0;50 5.41 True ENSG00000183091 ENSG00000183091 HGNC:7720 PGK1 gene PGK1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, 300653 6933565 False 1 50;0;50 5.41 False ENSG00000102144 ENSG00000102144 HGNC:8896 POLG gene POLG Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 15122711 False 1 50;0;50 5.41 False ENSG00000140521 ENSG00000140521 HGNC:9179 POMK gene POMK Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094;limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 24925318;24556084;29910097;23519211 False 1 0;67;33 5.41 False ENSG00000185900 ENSG00000185900 HGNC:26267 RAPSN gene RAPSN Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1, 208150;Congenital myasthenic syndrome;Limb-girdle muscular dystrophy 18179903;25792100 False 1 50;0;50 5.41 True ENSG00000165917 ENSG00000165917 HGNC:9863 SCN4A gene SCN4A Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperkalemic periodic paralysis, type 2, 170500;Hyperkalemic periodic paralysis 1651050;1659948 False 1 50;0;50 5.41 True ENSG00000007314 ENSG00000007314 HGNC:10591 SMN1 gene SMN1 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-4, 271150 32644125;32644120 False 1 25;50;25 5.41 True ENSG00000172062 ENSG00000172062 HGNC:11117 TNNT3 gene TNNT3 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 2B2, OMIM:618435;Arthrogryposis, distal, type 2B2, MONDO:0032750 12865991;12592607 False 1 50;0;50 5.41 False ENSG00000130595 ENSG00000130595 HGNC:11950 TPM2 gene TPM2 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis multiplex congenita, distal, type 1, 108120 7977374;12592607 False 1 50;0;50 5.41 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review;Expert Review Red;NHS GMS;Yorkshire and North East GLH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CAP myopathy 1, 609284;Nemaline myopathy 1, autosomal dominant or recessive, 609284;Nemaline myopathy;congenital myopathy 7704029;10619715 False 1 50;0;50 5.41 False ENSG00000143549 ENSG00000143549 HGNC:12012 PABPN1_GCN str PABPN1 Expert Review Amber;Literature Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116 27858728;28011929 False 2 100;0;0 5.41 False ENSG00000100836 ENSG00000100836 HGNC:8565 14 23790682 23790711 23321473 23321501 GCN 10 11