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 AARS gene AARS Expert Review Red;Expert Other rare neuromuscular disorders Neurology False 1 0;0;100 30.133 False ENSG00000090861 ENSG00000090861 HGNC:20 ACTA1 gene ACTA1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, scapulohumeroperoneal, 616852 25938801 False 1 50;0;50 30.133 False ENSG00000143632 ENSG00000143632 HGNC:129 AGL gene AGL Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIb, 232400;Glycogen storage disease IIIc, 232400 8755644;8990006 False 1 50;0;50 30.133 False ENSG00000162688 ENSG00000162688 HGNC:321 AMPD1 gene AMPD1 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 25929793;15803807;23543093;19258857 False 1 33;0;67 30.133 False ENSG00000116748 ENSG00000116748 HGNC:468 ANO5 gene ANO5 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3, OMIM:613319;Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 False 1 0;0;100 30.133 False ENSG00000171714 ENSG00000171714 HGNC:27337 AR gene AR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology Other Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 20301508;2062380;11436124 False 1 67;0;33 30.133 False Other - please provide details in the comments ENSG00000169083 ENSG00000169083 HGNC:644 ATP2A1 gene ATP2A1 Expert Review Red;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, OMIM:601003 False 1 0;0;100 30.133 False ENSG00000196296 ENSG00000196296 HGNC:811 ATP2A1 gene ATP2A1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, 601003 8841193;9367679 False 1 50;0;50 30.133 False ENSG00000196296 ENSG00000196296 HGNC:811 BAG3 gene BAG3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6, OMIM:612954 19085932 False 1 0;0;100 30.133 True ENSG00000151929 ENSG00000151929 HGNC:939 BSCL2 gene BSCL2 Expert Review Red;Expert Other rare neuromuscular disorders Neurology 14981520 False 1 100;0;0 30.133 False ENSG00000168000 ENSG00000168000 HGNC:15832 CACNA1A gene CACNA1A NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lambert-Eaton myasthenic syndrome, MONDO:0018556 11723274 False 1 0;0;100 30.133 False ENSG00000141837 ENSG00000141837 HGNC:1388 CASQ1 gene CASQ1 Expert Review Red;NHS GMS;London South GLH;UCL Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231;myopathy due to calsequestrin and SERCA1 protein overload, MONDO:0014546 30258016;25116801;26136523 False 1 20;40;40 30.133 True ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, OMIM:614321 False 1 0;0;100 30.133 False ENSG00000182533 ENSG00000182533 HGNC:1529 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911;Spinal muscular atrophy, Jokela type, OMIM:615048 25193783 False 1 0;0;100 30.133 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHRND gene CHRND Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 3A, slow-channel, 616321;Congenital myasthenic syndrome 11782989 False 1 50;0;50 30.133 False ENSG00000135902 ENSG00000135902 HGNC:1965 CLCN1 gene CLCN1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonia congenita, dominant, 160800 8112288;7981750 False 1 50;0;50 30.133 False ENSG00000188037 ENSG00000188037 HGNC:2019 CNBP gene CNBP NHS GMS;Expert Review Red;Expert Review Other rare neuromuscular disorders Neurology Other Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 1 50;0;50 30.133 False Other - please provide details in the comments ENSG00000169714 ENSG00000169714 HGNC:13164 COL12A1 gene COL12A1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ullrich congenital muscular dystrophy 2, 616470;Bethlem myopathy 24334604 False 1 50;0;50 30.133 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL4A2 gene COL4A2 NHS GMS;London South GLH;Expert Review Red;Expert Review Other rare neuromuscular disorders Neurology Unknown 22037604 False 1 0;33;67 30.133 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL9A3 gene COL9A3 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 10655510;10678658 False 1 0;0;100 30.133 False ENSG00000092758 ENSG00000092758 HGNC:2219 COLQ gene COLQ Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, 603034;Congenital myasthenic syndrome 9689136 False 1 50;0;50 30.133 False ENSG00000206561 ENSG00000206561 HGNC:2226 CPT1B gene CPT1B UKGTN Other rare neuromuscular disorders Neurology False 1 0;0;0 30.133 False ENSG00000205560 ENSG00000205560 HGNC:2329 CPT2 gene CPT2 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 16602102 False 1 0;0;100 30.133 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 2, OMIM:608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 21337604 False 1 0;0;100 30.133 False ENSG00000109846 ENSG00000109846 HGNC:2389 CYP2C8 gene CYP2C8 Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology Unknown {Drug metabolism, altered, CYP2C8-related}, OMIM:618018;Rhabdomyolysis, cerivastatin-induced 15365880;20739906 False 1 100;0;0 30.133 False ENSG00000138115 ENSG00000138115 HGNC:2622 DCTN1 gene DCTN1 Expert Review Red;Expert Other rare neuromuscular disorders Neurology False 1 0;0;0 30.133 False ENSG00000204843 ENSG00000204843 HGNC:2711 DES gene DES Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 1, OMIM:601419;Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 False 1 0;0;100 30.133 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Red;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology False 1 0;0;0 30.133 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMPK gene DMPK Expert Review Red;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 0;0;100 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DMPK gene DMPK Expert Review Red;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 100;0;0 30.133 False Other - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DMPK gene DMPK Expert Review Red;UKGTN Other rare neuromuscular disorders Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 33;0;67 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJB2 gene DNAJB2 Expert Review Red;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 22522442 False 1 0;0;0 30.133 False ENSG00000135924 ENSG00000135924 HGNC:5228 DNAJB6 gene DNAJB6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 False 1 0;0;100 30.133 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 1, 160150;Centronuclear myopathy 17932957 False 1 50;0;50 30.133 False ENSG00000079805 ENSG00000079805 HGNC:2974 DUX4 gene DUX4 UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral Muscular Dystrophy 1A 28040729;27922500;27816329;27841748;27672539 False 1 0;0;100 30.133 False Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 DUX4 gene DUX4 Expert Review Red;NHS GMS;South West GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy, 158900 False 1 0;33;67 30.133 True Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 DUX4 gene DUX4 Expert Review Red;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) False 1 0;0;0 30.133 False Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 DYSF gene DYSF Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1 254130;Muscular dystrophy, limb-girdle, type 2B 253601;Myopathy, distal, with anterior tibial onset 606768 False 1 0;0;100 30.133 False ENSG00000135636 ENSG00000135636 HGNC:3097 ETFDH gene ETFDH Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, 231680;Glutaric acidemia IIA, 231680;Glutaric acidemia IIB, 231680 17412732 False 1 50;0;50 30.133 True ENSG00000171503 ENSG00000171503 HGNC:3483 FAM111B gene FAM111B Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 24268661 False 1 0;0;100 30.133 False ENSG00000189057 ENSG00000189057 HGNC:24200 FBP2 gene FBP2 UKGTN Other rare neuromuscular disorders Neurology False 1 0;0;100 30.133 False ENSG00000130957 ENSG00000130957 HGNC:3607 FBXO38 gene FBXO38 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type IID 615575 24207122 False 1 0;0;100 30.133 False ENSG00000145868 ENSG00000145868 HGNC:28844 FHL1 gene FHL1 NHS GMS;Expert Review Red;Expert Review Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 False 1 0;100;0 30.133 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKTN gene FKTN NHS GMS;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800" 25929793 False 1 0;0;100 30.133 False ENSG00000106692 ENSG00000106692 HGNC:3622 GARS gene GARS Expert Review Red;Expert;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Distal Spinal Muscular Atrophy False 1 0;0;0 30.133 False ENSG00000106105 ENSG00000106105 HGNC:4162 GBE1 gene GBE1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 8613547 False 1 50;0;50 30.133 True ENSG00000114480 ENSG00000114480 HGNC:4180 GFPT1 gene GFPT1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, 610542;Congenital myasthenic syndrome 21310273 False 1 50;0;50 30.133 True ENSG00000198380 ENSG00000198380 HGNC:4241 GIPC1 gene GIPC1 Expert Review Red;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy 2, OMIM:618940;oculopharyngodistal myopathy 2, MONDO:0030134 32413282;33374016 False 1 50;0;50 30.133 False Other ENSG00000123159 ENSG00000123159 HGNC:1226 GNE gene GNE Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, OMIM:605820 False 1 0;0;100 30.133 False ENSG00000159921 ENSG00000159921 HGNC:23657 GYG1 gene GYG1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV, 613507 20357282 False 1 50;0;50 30.133 True ENSG00000163754 ENSG00000163754 HGNC:4699 HNRNPA1 gene HNRNPA1 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 False 1 0;0;100 30.133 False ENSG00000135486 ENSG00000135486 HGNC:5031 HRAS gene HRAS Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, OMIM:218040;Congenital myopathy with excess of muscle spindles, OMIM:218040 17412879 False 1 0;50;50 30.133 False ENSG00000174775 ENSG00000174775 HGNC:5173 HSPB3 gene HSPB3 Expert Review Red;Expert Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuronopathy, distal hereditary motor, type IIC 613376 20142617 False 1 0;0;0 30.133 False ENSG00000169271 ENSG00000169271 HGNC:5248 HTRA2 gene HTRA2 NHS GMS;Expert Review Red;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, OMIM:617248 27208207;27696117 False 1 100;0;0 30.133 False ENSG00000115317 ENSG00000115317 HGNC:14348 ISCU gene ISCU Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 18296749 False 1 0;0;100 30.133 False ENSG00000136003 ENSG00000136003 HGNC:29882 KLHL9 gene KLHL9 Expert Review Red;Expert list Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy (no OMIM number) 20554658 False 1 100;0;0 30.133 False ENSG00000198642 ENSG00000198642 HGNC:18732 KLHL9 gene KLHL9 NHS GMS;London South GLH Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early onset distal myopathy;Nemaline myopathy 23746549;20554658 False 1 50;25;25 30.133 False ENSG00000198642 ENSG00000198642 HGNC:18732 LAMA5 gene LAMA5 NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal myopia, facial tics, and failure of neuromuscular transmission 28544784 False 1 0;0;100 30.133 False ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 NHS GMS;Wessex and West Midlands GLH;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome 19251977;27472506 (Review) False 1 0;50;50 30.133 False ENSG00000172037 ENSG00000172037 HGNC:6487 LDB3 gene LDB3 Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 4, OMIM:609452 15668942 False 1 0;0;100 30.133 False ENSG00000122367 ENSG00000122367 HGNC:15710 LGI4 gene LGI4 NHS GMS;Expert Review Red;Other;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 28318499;15857855;16341215 False 1 0;100;0 30.133 False ENSG00000153902 ENSG00000153902 HGNC:18712 LIMS2 gene LIMS2 Expert Review Red;Yorkshire and North East GLH;NHS GMS;South West GLH;Literature Other rare neuromuscular disorders 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 30.133 True ENSG00000072163 ENSG00000072163 HGNC:16084 MATR3 gene MATR3 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 21, 606070;ALS;myofibrillar myopathy 19344878 False 1 50;0;50 30.133 True ENSG00000015479 ENSG00000015479 HGNC:6912 MATR3 gene MATR3 Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 24686783 False 1 0;0;100 30.133 False ENSG00000015479 ENSG00000015479 HGNC:6912 MB gene MB Expert Review Red;Other Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, sarcoplasmic body, OMIM:620286 30918256;35527200;34679218 False 1 33;0;67 30.133 False ENSG00000198125 ENSG00000198125 HGNC:6915 MEG3 gene MEG3 Expert Review Red Other rare neuromuscular disorders Neurology False 1 0;0;0 30.133 False ENSG00000214548 ENSG00000214548 HGNC:14575 MT-TE gene MT-TE NHS GMS;Expert Review Red;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637;congenital myopathy, MONDO:0019952 7726155;10392369;15607216;21194154;21931168;33128823 False 1 50;0;50 30.133 False Other ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TK gene MT-TK NHS GMS;Expert Review Red;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL MERRF syndrome, MONDO:0010790;inborn mitochondrial myopathy, MONDO:0009637 1463006;8228033 False 1 50;0;50 30.133 False Other ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 NHS GMS;Expert Review Red;UKGTN Other rare neuromuscular disorders Neurology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;inborn mitochondrial myopathy, MONDO:0009637 8122892;8559168;18391161;33484420 False 1 25;0;75 30.133 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TN gene MT-TN NHS GMS;Expert Review Red;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 8254046;16908752;23696415;31026515 False 1 50;0;50 30.133 False Other ENSG00000210135 ENSG00000210135 HGNC:7493 MT-TW gene MT-TW NHS GMS;Expert Review Red;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 9673981;20360171;23841600 False 1 50;0;50 30.133 False Other ENSG00000210117 ENSG00000210117 HGNC:7501 MYF6 gene MYF6 Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy, Dominant 11053684 False 1 0;50;50 30.133 False ENSG00000111046 ENSG00000111046 HGNC:7566 MYH14 gene MYH14 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 21480433;27875632 False 1 0;50;50 30.133 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH14 gene MYH14 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 21480433 False 1 50;0;50 30.133 True ENSG00000105357 ENSG00000105357 HGNC:23212 MYH8 gene MYH8 Expert Review Red;NHS GMS;London South GLH;Expert;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trismus-pseudocamptodactyly syndrome, OMIM:158300 17041932;22918376;17434305 False 1 29;14;57 30.133 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYMK gene MYMK Expert Review Red;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 28681861 False 1 33;0;67 30.133 False ENSG00000187616 ENSG00000187616 HGNC:33778 MYOT gene MYOT Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 15111675 False 1 0;0;100 30.133 False ENSG00000120729 ENSG00000120729 HGNC:12399 NEB gene NEB Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, 256030;congenital myopathy 9359044;12207937 False 1 50;0;50 30.133 True ENSG00000183091 ENSG00000183091 HGNC:7720 PABPN1 gene PABPN1 Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, OMIM:164300 False 1 0;0;100 30.133 False ENSG00000100836 ENSG00000100836 HGNC:8565 PGK1 gene PGK1 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, 300653 6933565 False 1 50;0;50 30.133 False ENSG00000102144 ENSG00000102144 HGNC:8896 PHKB gene PHKB NHS GMS;Expert Review Red;Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750" 9215682;30397902 False 1 0;0;100 30.133 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG1 gene PHKG1 UKGTN Other rare neuromuscular disorders Neurology False 1 0;0;100 30.133 False ENSG00000164776 ENSG00000164776 HGNC:8930 PLEKHG5 gene PLEKHG5 Expert Review Red;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Distal Spinal Muscular Atrophy;Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 17564964 False 1 0;0;0 30.133 False ENSG00000171680 ENSG00000171680 HGNC:29105 PNPLA2 gene PNPLA2 Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 21544567 False 1 33;0;67 30.133 False ENSG00000177666 ENSG00000177666 HGNC:30802 POLG gene POLG Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 15122711 False 1 50;0;50 30.133 False ENSG00000140521 ENSG00000140521 HGNC:9179 POMK gene POMK Expert Review Red;Yorkshire and North East GLH;NHS GMS;South West GLH;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders 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 30.133 False ENSG00000185900 ENSG00000185900 HGNC:26267 PREPL gene PREPL NHS GMS;Wessex and West Midlands GLH;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal myasthenic syndrome;congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency;?Myasthenic syndrome, congenital, 22, 616224 29483676;28726805;24610330;27472506 False 1 0;50;50 30.133 False ENSG00000138078 ENSG00000138078 HGNC:30228 PUS1 gene PUS1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 26556812;21686963;25227147 False 1 0;50;50 30.133 False ENSG00000177192 ENSG00000177192 HGNC:15508 RAPSN gene RAPSN Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 True ENSG00000165917 ENSG00000165917 HGNC:9863 RBCK1 gene RBCK1 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23798481 False 1 0;50;50 30.133 False ENSG00000125826 ENSG00000125826 HGNC:15864 RYR1 gene RYR1 NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal RYR1-related congenital myopathy 24951453;30808424;30406384;17483490 False 1 0;50;50 30.133 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 Expert Review Red;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital muscular dystrophies;Central core disease;Minicore myopathy with external ophthalmoplegia;Neuromuscular disease, congenital, with uniform type 1 fiber False 1 100;0;0 30.133 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperkalemic periodic paralysis, type 2, 170500;Hyperkalemic periodic paralysis 1651050;1659948 False 1 50;0;50 30.133 True ENSG00000007314 ENSG00000007314 HGNC:10591 SIGMAR1 gene SIGMAR1 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Amyotrophic lateral sclerosis 16, juvenile 614373 21842496 False 1 0;0;100 30.133 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC22A12 gene SLC22A12 Expert Review Red;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Hypouricemia, renal 220150" False 1 0;0;100 30.133 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A9 gene SLC2A9 Expert Review Red;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypouricemia, renal, 2 612076;{Uric acid concentration, serum, QTL 2} 612076" False 1 0;0;100 30.133 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC52A1 gene SLC52A1 Expert Review Red;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 30.133 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC5A7 gene SLC5A7 Expert Review Red;Literature;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronopathy, distal hereditary motor, type VIIA 158580 23141292 False 1 0;0;100 30.133 False ENSG00000115665 ENSG00000115665 HGNC:14025 SMCHD1 gene SMCHD1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology Other Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 False 1 0;0;100 30.133 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMN1 gene SMN1 Expert Review Red;Yorkshire and North East GLH;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-4, 271150 32644125;32644120 False 1 25;50;25 30.133 True ENSG00000172062 ENSG00000172062 HGNC:11117 SNAP25 gene SNAP25 NHS GMS;Wessex and West Midlands GLH;Other;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myasthenic syndrome, congenital, 18, 616330 25381298; 27472506 (Review) False 1 0;0;100 30.133 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNRPN gene SNRPN Expert Review Red;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology Other - please specifiy in evaluation comments Prader-Willi syndrome, OMIM:176270 10802660;8723064;34099539 False 1 0;0;100 30.133 False Other - please provide details in the comments ENSG00000128739 ENSG00000128739 HGNC:11164 STIM2 gene STIM2 Expert Review Red;UKGTN Other rare neuromuscular disorders Neurology Unknown False 1 0;50;50 30.133 False ENSG00000109689 ENSG00000109689 HGNC:19205 SYNE2 gene SYNE2 Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 False 1 0;0;100 30.133 False ENSG00000054654 ENSG00000054654 HGNC:17084 SYT15 gene SYT15 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology False 1 0;50;50 30.133 False ENSG00000204176 ENSG00000204176 HGNC:17167 SYT2 gene SYT2 Expert Review Red;Expert Other rare neuromuscular disorders Neurology False 1 0;100;0 30.133 False ENSG00000143858 ENSG00000143858 HGNC:11510 TIA1 gene TIA1 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Welander distal myopathy, OMIM:604454 23401021 False 1 0;0;100 30.133 False ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM43 gene TMEM43 Expert Review Red;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 False 1 0;0;100 30.133 False ENSG00000170876 ENSG00000170876 HGNC:28472 TNNT3 gene TNNT3 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 False ENSG00000130595 ENSG00000130595 HGNC:11950 TPM2 gene TPM2 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis multiplex congenita, distal, type 1, 108120 7977374;12592607 False 1 50;0;50 30.133 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Red;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 False ENSG00000143549 ENSG00000143549 HGNC:12012 TSEN54 gene TSEN54 NHS GMS;Expert Review Red;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, OMIM:277470 23177318;25929793 False 1 0;0;100 30.133 False ENSG00000182173 ENSG00000182173 HGNC:27561 UBQLN1 gene UBQLN1 Expert Review Red;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease PMID: 22766032 False 1 0;0;100 30.133 False ENSG00000135018 ENSG00000135018 HGNC:12508 VCP gene VCP Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 False 1 0;0;100 30.133 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS33B gene VPS33B Expert Review Red;NHS GMS;London South GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 15052268;16896922 False 1 67;33;0 30.133 True ENSG00000184056 ENSG00000184056 HGNC:12712 XPNPEP3 gene XPNPEP3 Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 40953058 False 1 0;0;100 30.133 False ENSG00000196236 ENSG00000196236 HGNC:28052 YARS2 gene YARS2 Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 24344687 False 1 0;50;50 30.133 False ENSG00000139131 ENSG00000139131 HGNC:24249 DMPK_CTG str DMPK NHS GMS;Expert Review Red;Expert list Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 1 50;0;50 30.133 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 GIPC1_GGC str GIPC1 Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculopharyngodistal myopathy 2, OMIM:618940 32413282;33374016 False 1 100;0;0 30.133 False ENSG00000123159 ENSG00000123159 HGNC:1226 19 14496041 14496074 GGC 32 73