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 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