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 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, OMIM:275630 33455044 False 3 100;0;0 30.133 False ENSG00000011198 ENSG00000011198 HGNC:21396 ABHD5 gene ABHD5 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, OMIM:275630 33455044 False 3 100;0;0 30.133 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 25929793 False 3 0;0;0 30.133 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Rhabdomyolysis; Acyl-CoA dehydrogenase, medium chain, deficiency of 201450" False 3 0;0;0 30.133 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, OMIM:201475 25929793;8739957;9973285 False 3 100;0;0 30.133 False ENSG00000072778 ENSG00000072778 HGNC:92 ACADVL gene ACADVL Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475;metabolic myopathy;rhabdomyolsis 7668252;27246109;25929793 False 3 100;0;0 30.133 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 NHS GMS;London South GLH;Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, actin, congenital, with cores, OMIM:161800;Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800;Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310;Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 22825594;19562689 False 3 75;25;0 30.133 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTA1 gene ACTA1 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 False 3 100;0;0 30.133 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000077522 ENSG00000077522 HGNC:164 ACTN2 gene ACTN2 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654 24692096;30701273;30900782 False 3 40;60;0 30.133 False ENSG00000077522 ENSG00000077522 HGNC:164 ADSSL1 gene ADSSL1 Expert Review Green;Expert Review;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, 5, OMIM:617030 28268051;26506222 False 3 67;0;33 30.133 False Other ENSG00000185100 ENSG00000185100 HGNC:20093 ADSSL1 gene ADSSL1 NHS GMS;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, 5, OMIM:617030 26506222;28268051;32331917;32646962;35668205 False 3 67;33;0 30.133 False ENSG00000185100 ENSG00000185100 HGNC:20093 AGL gene AGL Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400" 25929793;20648714 False 3 100;0;0 30.133 False ENSG00000162688 ENSG00000162688 HGNC:321 AGRN gene AGRN NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120 24951643;22205389;24951643;19631309 False 3 67;33;0 30.133 False ENSG00000188157 ENSG00000188157 HGNC:329 ALDOA gene ALDOA Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, OMIM:611881 25929793;25392908;14615364;2825199;8598869 False 3 100;0;0 30.133 False ENSG00000149925 ENSG00000149925 HGNC:414 ALG14 gene ALG14 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227 28733338;23404334;30221345 False 3 67;33;0 30.133 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228 23404334 False 3 67;33;0 30.133 False ENSG00000119523 ENSG00000119523 HGNC:23159 ANO5 gene ANO5 Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Miyoshi muscular dystrophy 3 613319;Muscular dystrophy, limb-girdle, type 2L 611307" 25929793 False 3 0;0;0 30.133 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANO5 gene ANO5 NHS GMS;Yorkshire and North East GLH;Expert Review Green;Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders 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 30.133 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANO5 gene ANO5 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3, 613319 20096397 False 3 100;0;0 30.133 False ENSG00000171714 ENSG00000171714 HGNC:27337 ASAH1 gene ASAH1 Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 22703880 False 3 100;0;0 30.133 False ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867 26924529;28218388;30327447;35276412;35690317;35838082 False 3 100;0;0 30.133 False Other ENSG00000138303 ENSG00000138303 HGNC:24268 ASCC3 gene ASCC3 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 21937992;26350204;35047834;39286456 False 3 100;0;0 30.133 False ENSG00000112249 ENSG00000112249 HGNC:18697 ATP2A2 gene ATP2A2 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dominant rhabdomyolysis 39970126 False 3 100;0;0 30.133 False ENSG00000174437 ENSG00000174437 HGNC:812 B3GALNT2 gene B3GALNT2 NHS GMS;London South GLH;Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 23453667 False 3 67;33;0 30.133 False ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 23877401;23359570 False 3 50;25;25 30.133 False ENSG00000174684 ENSG00000174684 HGNC:15685 BAG3 gene BAG3 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 6, 612954 19085932;20605452 False 3 100;0;0 30.133 True ENSG00000151929 ENSG00000151929 HGNC:939 BAG3 gene BAG3 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myofibrillar myopathy 6, 612954 21361913; 19085932 False 3 100;0;0 30.133 False ENSG00000151929 ENSG00000151929 HGNC:939 BET1 gene BET1 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy, MONDO:0019950 34779586 False 3 67;33;0 30.133 False ENSG00000105829 ENSG00000105829 HGNC:14562 BICD2 gene BICD2 Expert Review Green;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 False 3 100;0;0 30.133 False ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, OMIM:255200 17676042;25260562;27854204;29103045 False 3 75;25;0 30.133 False ENSG00000136717 ENSG00000136717 HGNC:1052 BVES gene BVES Expert Review Green;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 2X, 616812;limb girdle muscular dystrophy;cardiac arrhythmia 26642364;31119192;32528171 False 3 43;14;43 30.133 False ENSG00000112276 ENSG00000112276 HGNC:1152 CACNA1S gene CACNA1S Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Malignant hyperthermia susceptibility 5}, OMIM:601887 25735680;28011884;19825159 False 3 100;0;0 30.133 False ENSG00000081248 ENSG00000081248 HGNC:1397 CACNA1S gene CACNA1S NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy, MONDO:0019952 28012042 False 3 67;33;0 30.133 True ENSG00000081248 ENSG00000081248 HGNC:1397 CAPN3 gene CAPN3 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders 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 30.133 False ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 26136523;28895244;29039140;30258016;34908252;36514469 False 3 100;0;0 30.133 False ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 NHS GMS;Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, OMIM:614321;Rippling muscle disease, OMIM:606072 15668980;12666119;9536092;11251997;16730439 False 3 100;0;0 30.133 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN1 gene CAVIN1 NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, OMIM:613327 19726876;12116229 False 3 100;0;0 30.133 False ENSG00000177469 ENSG00000177469 HGNC:9688 CFL2 gene CFL2 NHS GMS;London South GLH;Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, OMIM:610687 22560515;17160903;24610938;32160286 False 3 50;25;25 30.133 False ENSG00000165410 ENSG00000165410 HGNC:1875 CHAT gene CHAT NHS GMS;Wessex and West Midlands GLH;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210 11172068;12756141 False 3 67;33;0 30.133 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHCHD10 gene CHCHD10 Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, Jokela type, OMIM:615048 25428574;31261376 False 3 100;0;0 30.133 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHKB gene CHKB NHS GMS;London South GLH;Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, OMIM:602541 16371353;21665002 False 3 67;33;0 30.133 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHKB gene CHKB NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, OMIM:602541 37011121 False 3 100;0;0 30.133 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA1 gene CHRNA1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462;Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930 7619526;15034283;15079006 False 3 67;33;0 30.133 False Other - please provide details in the comments ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314;Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313 8651643;8872460;22104196;8651643;10562302 False 3 67;33;0 30.133 False Other - please provide details in the comments ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323;Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322 16916845;11782989;11435464 False 3 67;33;0 30.133 False Other - please provide details in the comments ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809;Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 12417530;14719537;25792100;24295813;21175599 False 3 67;33;0 30.133 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal transient neonatal myasthenia gravis, MONDO:0018326 16826531;22167768;27245440;25411939;8040310;16826520 False 3 67;33;0 30.133 False ENSG00000196811 ENSG00000196811 HGNC:1967 CIAO1 gene CIAO1 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 3 100;0;0 30.133 False ENSG00000144021 ENSG00000144021 HGNC:14280 CIAO1 gene CIAO1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 3 100;0;0 30.133 False ENSG00000144021 ENSG00000144021 HGNC:14280 CIAO1 gene CIAO1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 3 100;0;0 30.133 False ENSG00000144021 ENSG00000144021 HGNC:14280 COL12A1 gene COL12A1 NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2 24334769;24334604;27348394 False 3 67;33;0 30.133 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL12A1 gene COL12A1 NHS GMS;London South GLH;Expert Review Green;UCL Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal EDS/myopathy overlap syndrome 24334604 False 3 50;50;0 30.133 True ENSG00000111799 ENSG00000111799 HGNC:2188 COL13A1 gene COL13A1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Literature;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, OMIM:616720 26626625 False 3 67;33;0 30.133 False ENSG00000197467 ENSG00000197467 HGNC:2190 COL13A1 gene COL13A1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, OMIM:616720 30767057;31018245;31449669 False 3 100;0;0 30.133 False Other ENSG00000197467 ENSG00000197467 HGNC:2190 COL25A1 gene COL25A1 NHS GMS;Expert Review Green;Research;Expert Review;Literature;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder 35077597 False 3 100;0;0 30.133 False Other ENSG00000188517 ENSG00000188517 HGNC:18603 COL6A1 gene COL6A1 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A1 gene COL6A1 NHS GMS;London South GLH;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 25535305;15955946;23738969 False 3 75;25;0 30.133 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A1 gene COL6A1 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 15955946;23738969;25535305 False 3 67;33;0 30.133 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090 15689448 False 3 67;33;0 30.133 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A2 gene COL6A2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Bethlem myopathy 1 158810" False 3 100;0;0 30.133 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A2 gene COL6A2 NHS GMS;London South GLH;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 15689448 False 3 75;25;0 30.133 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;UKGTN;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 Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 False 3 0;0;0 30.133 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL6A3 gene COL6A3 NHS GMS;London South GLH;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 15689448 False 3 75;25;0 30.133 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL6A3 gene COL6A3 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 15689448 False 3 67;33;0 30.133 False ENSG00000163359 ENSG00000163359 HGNC:2213 COLQ gene COLQ NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, OMIM:603034 10665486;9689136;18180250;10441569 False 3 67;33;0 30.133 False ENSG00000206561 ENSG00000206561 HGNC:2226 COQ4 gene COQ4 NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 False 3 100;0;0 30.133 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4, OMIM:612016 26818466;22036850;18319074;18319072;32337771 False 3 100;0;0 30.133 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 67;33;0 30.133 False ENSG00000156885 ENSG00000156885 HGNC:2279 CPT2 gene CPT2 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, myopathic, stress-induced, OMIM:255110;Exercise intolerance and rhabdomyolysis, late onset 23911907;10873395;11994355;15622536;21913903;23184072;24843804 False 3 100;0;0 30.133 False ENSG00000157184 ENSG00000157184 HGNC:2330 CPT2 gene CPT2 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB NHS GMS;Expert Review Green;Eligibility statement prior genetic testing 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 False 3 100;0;0 30.133 False ENSG00000109846 ENSG00000109846 HGNC:2389 CRYAB gene CRYAB Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review 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 11577372 False 3 100;0;0 30.133 False ENSG00000109846 ENSG00000109846 HGNC:2389 DAG1 gene DAG1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders 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 30.133 True ENSG00000173402 ENSG00000173402 HGNC:2666 DAG1 gene DAG1 NHS GMS;London South GLH;Expert Review Green;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 25934851;24052401;22810924;26380289;35082294 False 3 75;25;0 30.133 False ENSG00000173402 ENSG00000173402 HGNC:2666 DES gene DES Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders 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 30.133 False Other ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar 1, 601419 20718792 False 3 100;0;0 30.133 False ENSG00000175084 ENSG00000175084 HGNC:2770 DGUOK gene DGUOK NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 False 3 100;0;0 30.133 False ENSG00000114956 ENSG00000114956 HGNC:2858 DMD gene DMD Expert Review Green;Eligibility statement prior genetic testing 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) "Duchenne muscular dystrophy 310200;Becker muscular dystrophy 300376" False 3 100;0;0 30.133 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMD gene DMD NHS GMS;Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Becker muscular dystrophy, OMIM:300376;Duchenne muscular dystrophy, OMIM:310200 False 3 100;0;0 30.133 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMD gene DMD Expert Review Green;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Becker muscular dystrophy 300376" False 3 0;0;0 30.133 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJB4 gene DNAJB4 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal congenital myopathy with early respiratory failure 36264506 False 3 100;0;0 30.133 False Other ENSG00000162616 ENSG00000162616 HGNC:14886 DNAJB6 gene DNAJB6 Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNAJB6 gene DNAJB6 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted limb-girdle muscular dystrophy type 1E, 603511 False 3 100;0;0 30.133 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear myopathy 1, OMIM:160150;Lethal congenital contracture syndrome 5, OMIM:615368 22396310;23092955 False 3 75;25;0 30.133 False ENSG00000079805 ENSG00000079805 HGNC:2974 DNM2 gene DNM2 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 1, OMIM:160150 False 3 100;0;0 30.133 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome;Limb-girdle muscular dystrophy 19261599 False 3 100;0;0 30.133 True ENSG00000175920 ENSG00000175920 HGNC:26594 DOK7 gene DOK7 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, OMIM:254300 16917026;17452375;22661499;18626973;36579833 False 3 67;33;0 30.133 False ENSG00000175920 ENSG00000175920 HGNC:26594 DOK7 gene DOK7 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 3, OMIM:618389;Myasthenic syndrome, congenital, 10, OMIM:254300 15689448;16917026 False 3 100;0;0 30.133 False ENSG00000175920 ENSG00000175920 HGNC:26594 DOLK gene DOLK NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im, OMIM:610768 17273964;22242004;23890587 False 3 67;33;0 30.133 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750 22742743;23278575;23447650;23591138;25500013 False 3 67;33;0 30.133 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM2 gene DPM2 NHS GMS;London South GLH;Expert Review Green;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 19901254;23109149 False 3 50;50;0 30.133 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;NHS GMS;London South GLH;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 19576565;35932216;33200426;31266720;31469168;28803818 False 3 43;43;14 30.133 False ENSG00000179085 ENSG00000179085 HGNC:3007 DTNA gene DTNA Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted muscular dystrophy, MONDO:0020121 36799992 False 3 100;0;0 30.133 False Other ENSG00000134769 ENSG00000134769 HGNC:3057 DYNC1H1 gene DYNC1H1 Expert Review Green;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600 22459677 False 3 100;0;0 30.133 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYSF gene DYSF Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768 25929793 False 3 0;0;0 30.133 False ENSG00000135636 ENSG00000135636 HGNC:3097 DYSF gene DYSF Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, 254130 20301480 False 3 100;0;0 30.133 False ENSG00000135636 ENSG00000135636 HGNC:3097 DYSF gene DYSF Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000135636 ENSG00000135636 HGNC:3097 ECEL1 gene ECEL1 Expert Review Green;NHS GMS;London South GLH;Expert Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, OMIM:615065 23261301;30131190 False 3 33;33;33 30.133 True ENSG00000171551 ENSG00000171551 HGNC:3147 EMD gene EMD Expert Review Green;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) "Emery-Dreifuss muscular dystrophy 1, X-linked 310300" False 3 0;0;0 30.133 False ENSG00000102119 ENSG00000102119 HGNC:3331 EMD gene EMD Expert Review Green;NHS GMS;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300 21697856;31645980;31802929;34026875 False 3 50;25;25 30.133 False ENSG00000102119 ENSG00000102119 HGNC:3331 ENO3 gene ENO3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII, OMIM:612932 11506403;25929793;25267339 False 3 100;0;0 30.133 False ENSG00000108515 ENSG00000108515 HGNC:3354 EPG5 gene EPG5 NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, OMIM:242840 23222957 False 3 67;33;0 30.133 True ENSG00000152223 ENSG00000152223 HGNC:29331 ETFA gene ETFA Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Literature;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 25929793 False 3 0;0;0 30.133 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Literature;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308 False 3 0;0;0 30.133 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" 25929793 False 3 0;0;0 30.133 False ENSG00000171503 ENSG00000171503 HGNC:3483 EXOSC3 gene EXOSC3 Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 22544365 False 3 100;0;0 30.133 False ENSG00000107371 ENSG00000107371 HGNC:17944 FDX2 gene FDX2 NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 24281368;30010796;28803783 False 3 100;0;0 30.133 False ENSG00000267673 ENSG00000267673 HGNC:30546 FHL1 gene FHL1 Expert Review Green;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) Emery-Dreifuss muscular dystrophy False 3 0;0;0 30.133 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHL1 gene FHL1 Expert Review Green;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 1b, with late childhood or adult onset, 300718 22094483; 7709723 False 3 100;0;0 30.133 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHL1 gene FHL1 NHS GMS;Expert Review Green;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, OMIM:300717 19181672;19171836 False 3 33;67;0 30.133 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKBP14 gene FKBP14 Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 22265013 False 3 100;0;0 30.133 False ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155" False 3 0;0;0 30.133 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP Expert Review Green;Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders 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 30.133 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP NHS GMS;London South GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153;Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612 11592034 False 3 67;33;0 30.133 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800;Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588 12601708;14627679 False 3 67;33;0 30.133 False ENSG00000106692 ENSG00000106692 HGNC:3622 FKTN gene FKTN Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 False 3 100;0;0 30.133 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLNC gene FLNC Expert Review Green;Literature;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;Expert Review Other rare neuromuscular disorders 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 21620354; 15824355; 15929027 False 3 100;0;0 30.133 False ENSG00000128591 ENSG00000128591 HGNC:3756 FXR1 gene FXR1 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital proximal, with minicore lesions, OMIM:618823;Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822 30770808;35393337 False 3 50;50;0 30.133 False ENSG00000114416 ENSG00000114416 HGNC:4023 GAA gene GAA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300" False 3 100;0;0 30.133 False ENSG00000171298 ENSG00000171298 HGNC:4065 GAA gene GAA Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Literature;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300" 25929793;14695532;18425781 False 3 100;0;0 30.133 False ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 15452297;20058079 False 3 100;0;0 30.133 False ENSG00000114480 ENSG00000114480 HGNC:4180 GBE1 gene GBE1 NHS GMS;Expert Review Green;Expert Review;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita;foetal akinesias;fetal akinesia deformation sequence;severe congenital myopathy;multiple pterygium syndrome 23218673;26578207;30303820 False 3 100;0;0 30.133 False Other ENSG00000114480 ENSG00000114480 HGNC:4180 GFER gene GFER Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 19409522;28155230 False 3 40;20;40 30.133 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFPT1 gene GFPT1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542 21975507;21310273;22230109;23569079 False 3 67;33;0 30.133 False ENSG00000198380 ENSG00000198380 HGNC:4241 GGPS1 gene GGPS1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 35869884;32403198 False 3 100;0;0 30.133 False ENSG00000152904 ENSG00000152904 HGNC:4249 GMPPB gene GMPPB NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352 26133662;23768512 False 3 67;33;0 30.133 False ENSG00000173540 ENSG00000173540 HGNC:22932 GMPPB gene GMPPB NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders 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 26133662;27147698 False 3 67;33;0 30.133 False ENSG00000173540 ENSG00000173540 HGNC:22932 GMPPB gene GMPPB NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders 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 30.133 False ENSG00000173540 ENSG00000173540 HGNC:22932 GMPPB gene GMPPB Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders 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 30.133 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, 605820 16372135 False 3 0;0;0 30.133 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNE gene GNE Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 True ENSG00000159921 ENSG00000159921 HGNC:23657 GOLGA2 gene GOLGA2 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 26742501;30237576;34424553 False 3 80;20;0 30.133 False ENSG00000167110 ENSG00000167110 HGNC:4425 GOSR2 gene GOSR2 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with or without seizures, OMIM:620166 29855340;33639315;34167170 False 3 71;14;14 30.133 False ENSG00000108433 ENSG00000108433 HGNC:4431 GYG1 gene GYG1 Radboud University Medical Center, Nijmegen;Expert Review Green;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "?Glycogen storage disease XV 613507;Polyglucosan body myopathy 2 616199" 20357282;25272951;27544502;26652229;26255073 False 3 100;0;0 30.133 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle, OMIM:611556 27604308;24579562;21958591;19699667;17928598 False 3 100;0;0 30.133 False ENSG00000104812 ENSG00000104812 HGNC:4706 HACD1 gene HACD1 Expert Review Green;NHS GMS;London South GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, nonprogressive, OMIM:619967 23933735;15829503;32426512;33354762 False 3 75;25;0 30.133 True ENSG00000165996 ENSG00000165996 HGNC:9639 HADHA gene HADHA Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency, OMIM:609015 25929793 False 3 0;0;0 30.133 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Literature;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2, OMIM:620300 25929793;35403730 False 3 100;0;0 30.133 False ENSG00000138029 ENSG00000138029 HGNC:4803 HMGCR gene HMGCR Expert Review Green;NHS GMS;Literature;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375 37167966;36745799 False 3 100;0;0 30.133 False ENSG00000113161 ENSG00000113161 HGNC:5006 HNRNPA2B1 gene HNRNPA2B1 NHS GMS;Expert Review Green;Research;Expert list;Other Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 35484142 False 3 100;0;0 30.133 False ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPA2B1 gene HNRNPA2B1 NHS GMS;Expert Review Green;Literature;Expert list Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted oculopharyngodistal myopathy;muscular dystrophy;congenital myopathy https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext False 3 100;0;0 30.133 False ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPDL gene HNRNPDL Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Literature Other rare neuromuscular disorders 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 30.133 True ENSG00000152795 ENSG00000152795 HGNC:5037 HSPB1 gene HSPB1 Expert Review Green;Expert list Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, distal hereditary motor type IIB, 608634 " 27830184 False 3 100;0;0 30.133 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy 26718575 False 3 100;0;0 30.133 False ENSG00000152137 ENSG00000152137 HGNC:30171 IGHMBP2 gene IGHMBP2 Expert Review Green;Expert;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI, OMIM:604320 34726235 False 3 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132740 ENSG00000132740 HGNC:5542 INPP5K gene INPP5K NHS GMS;London South GLH;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 28190459;28190456 False 3 50;50;0 30.133 False ENSG00000132376 ENSG00000132376 HGNC:33882 ISCU gene ISCU NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 21165651;22125086;29079705 False 3 0;0;0 30.133 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISPD gene ISPD NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 22522420;22522421 False 3 67;33;0 30.133 False ENSG00000214960 ENSG00000214960 HGNC:37276 ISPD gene ISPD Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA7 gene ITGA7 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204 9590299;18045857;26076707 False 3 75;25;0 30.133 False ENSG00000135424 ENSG00000135424 HGNC:6143 JAG2 gene JAG2 Expert Review Green;NHS GMS Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 33861953;39121631;39649397 False 3 100;0;0 30.133 False ENSG00000184916 ENSG00000184916 HGNC:6189 JAG2 gene JAG2 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 33861953 False 3 100;0;0 30.133 False ENSG00000184916 ENSG00000184916 HGNC:6189 KBTBD13 gene KBTBD13 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline myopathy 6, autosomal dominant, OMIM:609273 21109227 False 3 75;25;0 30.133 False ENSG00000234438 ENSG00000234438 HGNC:37227 KLHL40 gene KLHL40 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, OMIM:615348 23746549;36322148 False 3 75;25;0 30.133 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, OMIM:615731 24268659 False 3 75;25;0 30.133 False ENSG00000239474 ENSG00000239474 HGNC:16905 KY gene KY NHS GMS;Expert Review Green;UCL Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 7, OMIM:617114 11136708;27485408;27484770;30591934 False 3 100;0;0 30.133 True ENSG00000174611 ENSG00000174611 HGNC:26576 LAMA2 gene LAMA2 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 12552556;7550355 False 3 67;33;0 30.133 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA2 gene LAMA2 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855;congenital muscular dystroph 12552556;7550355 False 3 100;0;0 30.133 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMP2 gene LAMP2 Expert Review Green;NHS GMS;Yorkshire and North East GLH;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) Danon disease, 300257 10972294 False 3 100;0;0 30.133 True ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 Expert Review Green;UKGTN;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services 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) "Danon disease 300257" False 3 0;0;0 30.133 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840 12966029 False 3 67;33;0 30.133 False ENSG00000133424 ENSG00000133424 HGNC:6511 LDB3 gene LDB3 Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar 4, 609452 15668942 False 3 100;0;0 30.133 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDHA gene LDHA Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal " Glycogen storage disease XI 612933" 27604308;1953713 False 3 100;0;0 30.133 False ENSG00000134333 ENSG00000134333 HGNC:6535 LETM1 gene LETM1 NHS GMS;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 30.133 False ENSG00000168924 ENSG00000168924 HGNC:6556 LMNA gene LMNA NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Muscular Dystrophy, LMNA-related (Dominant);Emery-Dreifuss muscular dystrophy 2, AD, 181350 15622532;18551513;15148145 False 3 100;0;0 30.133 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA NHS GMS;Expert Review Green Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital fiber type disproportion myopathy 24642510 False 3 0;0;0 30.133 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA Expert Review Green;Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders 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 30.133 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD3 gene LMOD3 NHS GMS;London South GLH;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, OMIM:616165 PMID 25250574 False 3 75;25;0 30.133 False ENSG00000163380 ENSG00000163380 HGNC:6649 LPIN1 gene LPIN1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal " Myoglobinuria, acute recurrent, autosomal recessive 268200" 25929793 False 3 0;0;0 30.133 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPIN1 gene LPIN1 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, 268200;myoglobinuria;exercise induced myopathy 18817903;22481384 False 3 100;0;0 30.133 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRP4 gene LRP4 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 17, OMIM:616304 24234652;26052878 False 3 67;33;0 30.133 False ENSG00000134569 ENSG00000134569 HGNC:6696 MAP3K20 gene MAP3K20 NHS GMS;London South GLH;Expert Review Green;UCL Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 27816943 False 3 50;50;0 30.133 True ENSG00000091436 ENSG00000091436 HGNC:17797 MATR3 gene MATR3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Distal Myopathy False 3 100;0;0 30.133 False ENSG00000015479 ENSG00000015479 HGNC:6912 MEGF10 gene MEGF10 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399 22101682 False 3 75;25;0 30.133 False ENSG00000145794 ENSG00000145794 HGNC:29634 MICU1 gene MICU1 Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, OMIM:615673 24336167 False 3 100;0;0 30.133 False ENSG00000107745 ENSG00000107745 HGNC:1530 MICU1 gene MICU1 NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, 615673 24336167 False 3 67;33;0 30.133 False ENSG00000107745 ENSG00000107745 HGNC:1530 MLIP gene MLIP NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138 26436652;32719146;33802236;34581780;34935254;35672413;35915960;35942668 False 3 100;0;0 30.133 False ENSG00000146147 ENSG00000146147 HGNC:21355 MLIP gene MLIP NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 34581780;34935254;35672413;35915960;35942668 False 3 100;0;0 30.133 False ENSG00000146147 ENSG00000146147 HGNC:21355 MSTO1 gene MSTO1 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675 28544275;28554942;31130378;29339779;37431817 False 3 50;50;0 30.133 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-CO1 gene MT-CO1 NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology MITOCHONDRIAL Leber hereditary optic neuropathy, MONDO:0010788;myoglobinuria, MONDO:0000866 10980727;25929793 False 3 100;0;0 30.133 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 NHS GMS;Expert Review Green;Expert Review;Expert list Other rare neuromuscular disorders Neurology MITOCHONDRIAL Cytochrome oxidase deficiency;rhabdomyolysis, MONDO:0005290;myoglobinuria, MONDO:0000866 14733964;23616164;25929793;28521807 False 3 100;0;0 30.133 False ENSG00000198712 ENSG00000198712 HGNC:7421 MTM1 gene MTM1 NHS GMS;Yorkshire and North East GLH;Expert Review;Expert Review Green;Expert list;Literature 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) Myopathy, centronuclear, X-linked, OMIM:310400 9305655;9285787 False 3 100;0;0 30.133 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTM1 gene MTM1 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory 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) Myopathy, centronuclear, X-linked, OMIM:310400 8640223 False 3 75;25;0 30.133 False ENSG00000171100 ENSG00000171100 HGNC:7448 MUSK gene MUSK NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325 15496425;16550915;23326516;24183479;19949040 False 3 67;33;0 30.133 False ENSG00000030304 ENSG00000030304 HGNC:7525 MYBPC1 gene MYBPC1 Expert Review Green;NHS GMS;London South GLH;Expert Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B, OMIM:614335;Lethal congenital contracture syndrome 4, OMIM:614915;Myopathy, congenital, with tremor, OMIM:618524 20045868 False 3 50;25;25 30.133 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYH2 gene MYH2 Expert list;NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia, OMIM:605637 11114175;23489661;15548556;23388406;20418530;24193343 False 3 75;25;0 30.133 False ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 NHS GMS;London South GLH;Expert Review Green;Expert;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700;Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436;Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 18695058;26578207;29805041;32902138 False 3 60;40;0 30.133 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH7 gene MYH7 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders 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 15322983;20733148;25666907;17372140;31130376 False 3 80;20;0 30.133 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050;Scapuloperoneal syndrome, myopathic type, OMIM:181430;MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409 20301606 False 3 100;0;0 30.133 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL1 gene MYL1 Expert Review Green;NHS GMS;London South GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 21063730;30215711 False 3 100;0;0 30.133 True ENSG00000168530 ENSG00000168530 HGNC:7582 MYL2 gene MYL2 NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 23365102;27378946;33731536 False 3 50;50;0 30.133 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYMK gene MYMK NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940 28681861 False 3 100;0;0 30.133 False ENSG00000187616 ENSG00000187616 HGNC:33778 MYMX gene MYMX NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome 2, OMIM:619941;Carey-Fineman-Ziter syndrome 2, MONDO:0100292 35642635;39668186 False 3 100;0;0 30.133 False ENSG00000262179 ENSG00000262179 HGNC:52391 MYO18B gene MYO18B NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 27879346;27858739;25748484;32637634 False 3 67;33;0 30.133 True ENSG00000133454 ENSG00000133454 HGNC:18150 MYO9A gene MYO9A Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198;Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 29462312;27259756;26752647 False 3 100;0;0 30.133 False ENSG00000066933 ENSG00000066933 HGNC:7608 MYOD1 gene MYOD1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 26733463;30403323;31260566 False 3 100;0;0 30.133 False ENSG00000129152 ENSG00000129152 HGNC:7611 MYOT gene MYOT Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 15111675 False 3 100;0;0 30.133 False ENSG00000120729 ENSG00000120729 HGNC:12399 MYOT gene MYOT Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000120729 ENSG00000120729 HGNC:12399 MYPN gene MYPN Expert Review Green;NHS GMS;London South GLH;UCL Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 11, autosomal recessive, OMIM:617336 28220527;28017374 False 3 100;0;0 30.133 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEB gene NEB NHS GMS;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Nemaline myopathy 2, OMIM:256030;distal myopathy, MONDO:0018949 12207937;30679003;39474605;40517164 False 3 100;0;0 30.133 False ENSG00000183091 ENSG00000183091 HGNC:7720 NEB gene NEB NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, OMIM:256030 12207937;30679003;39474605 False 3 75;25;0 30.133 False ENSG00000183091 ENSG00000183091 HGNC:7720 OBSCN gene OBSCN NHS GMS;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 18477606;33438037;34957489 False 3 67;0;33 30.133 False ENSG00000154358 ENSG00000154358 HGNC:15719 ORAI1 gene ORAI1 NHS GMS;London South GLH;Expert Review Green;Expert;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2, OMIM:615883 28058752;25227914 False 3 75;25;0 30.133 False ENSG00000182500 ENSG00000276045 HGNC:25896 ORAI1 gene ORAI1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2, 615883 False 3 50;50;0 30.133 True ENSG00000182500 ENSG00000276045 HGNC:25896 PAX7 gene PAX7 NHS GMS;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, progressive, with scoliosis, OMIM:618578 31092906 False 3 100;0;0 30.133 False ENSG00000009709 ENSG00000009709 HGNC:8621 PFKM gene PFKM Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, 232800 7603526 False 3 67;33;0 30.133 True ENSG00000152556 ENSG00000152556 HGNC:8877 PFKM gene PFKM Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease VII 232800" 25929793;11949936;8037209 False 3 100;0;0 30.133 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease X 261670" 25929793;8447317;19273759 False 3 100;0;0 30.133 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Phosphoglycerate kinase 1 deficiency 300653" 22348148;1547346 False 3 100;0;0 30.133 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Literature;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type It 614921" 25929793;19625727;22492991 False 3 100;0;0 30.133 False ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females "Muscle glycogenosis 300559" 27604308;25929793;12825073;15637709 False 3 100;0;0 30.133 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA1 gene PHKA1 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 2252364;7874115 False 3 100;0;0 30.133 True ENSG00000067177 ENSG00000067177 HGNC:8925 PIEZO2 gene PIEZO2 Expert Review Green;NHS GMS;London South GLH;Expert Review Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146 23487782;24726473 False 3 67;33;0 30.133 True ENSG00000154864 ENSG00000154864 HGNC:26270 PLEC gene PLEC Expert Review Green;NHS GMS;London South GLH;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723;Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 21109228;20624679;28447722 False 3 33;33;33 30.133 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLEC gene PLEC Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLEC gene PLEC NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 10446808; 27472506 (Review); 21263134; 21175599; 25683118 False 3 50;50;0 30.133 False ENSG00000178209 ENSG00000178209 HGNC:9069 PNPLA2 gene PNPLA2 Expert Review Green;NHS GMS;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 18952067;21544567;25956450;32269696 False 3 100;0;0 30.133 False ENSG00000177666 ENSG00000177666 HGNC:30802 PNPLA2 gene PNPLA2 NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 18952067;21544567;25956450;32269696 False 3 100;0;0 30.133 False ENSG00000177666 ENSG00000177666 HGNC:30802 POC5 gene POC5 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology;muscle cramps 29272404;40590205 False 3 100;0;0 30.133 False ENSG00000152359 ENSG00000152359 HGNC:26658 POGLUT1 gene POGLUT1 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders 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 3 75;25;0 30.133 False ENSG00000163389 ENSG00000163389 HGNC:22954 POLG gene POLG Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Literature Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640;Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 25929793 False 3 0;0;0 30.133 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Literature;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131" 25929793;27592148;30157269;21555342;31286721 False 3 0;0;0 30.133 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMGNT1 gene POMGNT1 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT1 gene POMGNT1 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151 11709191;12588800 False 3 67;33;0 30.133 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 22958903;27066570 False 3 67;33;0 30.133 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMGNT2 gene POMGNT2 Expert Review Green;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 (congenital with brain and eye anomalies, type A, 8, 614830;limb girdle muscular dystrophy 27066570 False 3 50;50;0 30.133 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 23519211;24556084 False 3 67;33;0 30.133 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT1 gene POMT1 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308 12369018 False 3 67;33;0 30.133 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000009830 ENSG00000009830 HGNC:19743 POMT2 gene POMT2 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156 15894594;17559086 False 3 67;33;0 30.133 False ENSG00000009830 ENSG00000009830 HGNC:19743 POPDC3 gene POPDC3 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000132429 ENSG00000132429 HGNC:17649 PRKAG2 gene PRKAG2 UKGTN;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted " Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200" 27604308 False 3 0;0;100 30.133 False ENSG00000106617 ENSG00000106617 HGNC:9386 PYGM gene PYGM Expert Review Green;Radboud University Medical Center, Nijmegen;Literature;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease V McArdle disease 232600 AR" 25929793;16786513;8316268 False 3 100;0;0 30.133 False ENSG00000068976 ENSG00000068976 HGNC:9726 PYGM gene PYGM Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal McArdle disease, 232600 8316268;12666117 False 3 100;0;0 30.133 False ENSG00000068976 ENSG00000068976 HGNC:9726 PYROXD1 gene PYROXD1 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal muscular dystrophy 33694278;30515627 False 3 100;0;0 30.133 False Other ENSG00000121350 ENSG00000121350 HGNC:26162 PYROXD1 gene PYROXD1 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8, OMIM:617258 27745833;31455395 False 3 50;50;0 30.133 False ENSG00000121350 ENSG00000121350 HGNC:26162 PYROXD1 gene PYROXD1 Expert Review Green;NHS GMS;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8, 617258;adult-onset limb girdle muscular dystrophy 27745833;30345904;30515627;33694278 False 3 50;50;0 30.133 False ENSG00000121350 ENSG00000121350 HGNC:26162 RAPSN gene RAPSN NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 11791205;16945936;15145336;14504330 False 3 67;33;0 30.133 False ENSG00000165917 ENSG00000165917 HGNC:9863 RBCK1 gene RBCK1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert Review;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23104095;23889995;23798481;25041762 False 3 100;0;0 30.133 False ENSG00000125826 ENSG00000125826 HGNC:15864 RFC4 gene RFC4 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal congenital myopathy, MONDO:0019952 39106866 False 3 100;0;0 30.133 False ENSG00000163918 ENSG00000163918 HGNC:9972 RRM2B gene RRM2B UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Literature;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077" 25929793 False 3 0;0;0 30.133 False ENSG00000048392 ENSG00000048392 HGNC:17296 RYR1 gene RYR1 Expert Review Green;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Malignant hyperthermia susceptibility 1}, 145600;Central core disease, 117000;Minicore myopathy with external ophthalmoplegia, 255320;Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600 False 3 0;0;0 30.133 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central core disease, OMIM:117000;Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000;Minicore myopathy with external ophthalmoplegia, OMIM:255320;King-Denborough syndrome, OMIM:619542 26799446 False 3 75;25;0 30.133 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR3 gene RYR3 Expert Review Green;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 20, OMIM:620310;Nemaline myopathy, MONDO:0018958 29498452 False 3 50;50;0 30.133 False ENSG00000198838 ENSG00000198838 HGNC:10485 SCN4A gene SCN4A NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy, MONDO:0019952 26700687 False 3 67;33;0 30.133 True ENSG00000007314 ENSG00000007314 HGNC:10591 SCN4A gene SCN4A NHS GMS;Wessex and West Midlands GLH;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 16, OMIM:614198 http://dx.doi.org/10.1016/j.nmd.2015.06.091 False 3 50;50;0 30.133 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN4A gene SCN4A NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal SCN4A-related muscle disorders 23801527;28779239;32978841 False 3 100;0;0 30.133 False ENSG00000007314 ENSG00000007314 HGNC:10591 SELENON gene SELENON NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, 602771 23217329 False 3 67;33;0 30.133 False ENSG00000162430 ENSG00000162430 HGNC:15999 SELENON gene SELENON Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 False ENSG00000162430 ENSG00000162430 HGNC:15999 SELENON gene SELENON NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, OMIM:602771 26780752;16365872;23217329 False 3 50;50;0 30.133 False ENSG00000162430 ENSG00000162430 HGNC:15999 SGCA gene SGCA NHS GMS;Expert Review Green;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 27297959;26453141;23989969 False 3 100;0;0 30.133 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCA gene SGCA Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000102683 ENSG00000102683 HGNC:10809 SIL1 gene SIL1 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, OMIM:248800 11528383 False 3 100;0;0 30.133 False ENSG00000120725 ENSG00000120725 HGNC:24624 SIL1 gene SIL1 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Marinesco-Sjogren syndrome 248800" 25929793 False 3 0;0;0 30.133 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC18A3 gene SLC18A3 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239 27590285 False 3 67;33;0 30.133 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC22A5 gene SLC22A5 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Literature;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427;25929793 False 3 100;0;0 30.133 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197 26870663 False 3 0;100;0 30.133 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A4 gene SLC25A4 Expert Review Green;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 25732997;27693233 False 3 50;0;50 30.133 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC52A2 gene SLC52A2 Expert Review Green;Expert list;UKGTN;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867;Hereditary sensory and autonomic neuropathy, MONDO:0015364 22740598;22864630;23243084;24253200;30343981;30377535;31868069;32909658;35608644;36186484 False 3 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 20206331;20920669 False 3 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A7 gene SLC5A7 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Eligibility statement prior genetic testing Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 27569547;23141292;26786006;36611016 False 3 67;33;0 30.133 False ENSG00000115665 ENSG00000115665 HGNC:14025 SMCHD1 gene SMCHD1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMN1 gene SMN1 Expert Review Green;Expert;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy 1, OMIM:253300;Spinal muscular atrophy 2, OMIM:253550;Spinal muscular atrophy 3, OMIM:253400;Spinal muscular atrophy 4, OMIM:271150 7813012;32644125;32644120 False 3 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172062 ENSG00000172062 HGNC:11117 SMPX gene SMPX NHS GMS;Expert Review Green;Literature 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) Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075;myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771 33974137 False 3 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000091482 ENSG00000091482 HGNC:11122 SNUPN gene SNUPN Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793 38366623;38413582 False 3 100;0;0 30.133 False ENSG00000169371 ENSG00000169371 HGNC:14245 SPEG gene SPEG NHS GMS;London South GLH;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, OMIM:615959 25087613 False 3 75;25;0 30.133 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPG11 gene SPG11 Expert Review Green;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 20110243 False 3 50;50;0 30.133 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPTBN4 gene SPTBN4 NHS GMS;Expert Review Green;Other Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;29861105;31850074;33772159 False 3 100;0;0 30.133 False ENSG00000160460 ENSG00000160460 HGNC:14896 SQSTM1 gene SQSTM1 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystal Myopathy with rimmed vacuoles, 617158 26208961 False 3 100;0;0 30.133 False ENSG00000161011 ENSG00000161011 HGNC:11280 SRPK3 gene SRPK3 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Slowly progressive myopathy, digenic 16140986;38429495;39667923 False 3 67;17;17 30.133 False ENSG00000184343 ENSG00000184343 HGNC:11402 STAC3 gene STAC3 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, OMIM:255995 23736855;28003463 False 3 50;25;25 30.133 True ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 1, 160565 False 3 25;75;0 30.133 True ENSG00000167323 ENSG00000167323 HGNC:11386 STIM1 gene STIM1 NHS GMS;London South GLH;Expert Review Green;Expert;UKGTN;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 1, OMIM:160565 23332920 False 3 75;25;0 30.133 False ENSG00000167323 ENSG00000167323 HGNC:11386 SUCLA2 gene SUCLA2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;UKGTN;Radboud University Medical Center, Nijmegen;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 25929793 False 3 0;0;0 30.133 False ENSG00000136143 ENSG00000136143 HGNC:11448 SYNE1 gene SYNE1 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998;Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 27782104;19542096 False 3 50;50;0 30.133 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNE1 gene SYNE1 Expert Review Green;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 "Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998" False 3 0;0;0 30.133 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNE2 gene SYNE2 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 17761684;20301609 False 3 60;20;20 30.133 False ENSG00000054654 ENSG00000054654 HGNC:17084 SYT2 gene SYT2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040 26519543;25192047;27472506;30533528;32776697;32250532 False 3 67;33;0 30.133 False ENSG00000143858 ENSG00000143858 HGNC:11510 TAMM41 gene TAMM41 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 56, OMIM:620139 35321494 False 3 100;0;0 30.133 False ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 26805782;30245509 False 3 100;0;0 30.133 False ENSG00000183597 ENSG00000183597 HGNC:25439 TCAP gene TCAP Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000173991 ENSG00000173991 HGNC:11610 TIA1 gene TIA1 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Welander distal myopathy, OMIM:604454;distal myopathy, Welander type, MONDO:0011466 23401021;13469174;10482271 False 3 100;0;0 30.133 False ENSG00000116001 ENSG00000116001 HGNC:11802 TK2 gene TK2 Expert Review Green;Literature;UKGTN;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 25929793 False 3 0;0;0 30.133 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM5 gene TMEM5 NHS GMS;London South GLH;Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 16282978 False 3 67;33;0 30.133 False ENSG00000118600 ENSG00000118600 HGNC:13530 TNNC2 gene TNNC2 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161 33755597 False 3 67;33;0 30.133 False ENSG00000101470 ENSG00000101470 HGNC:11944 TNNI1 gene TNNI1 Expert Review Green;NHS GMS;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000159173 ENSG00000159173 HGNC:11945 TNNI1 gene TNNI1 NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hypocontractile muscle disease 38569017;34934811 False 3 100;0;0 30.133 False ENSG00000159173 ENSG00000159173 HGNC:11945 TNNI2 gene TNNI2 Expert Review Green;NHS GMS;London South GLH;Expert;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B1, OMIM:601680 16924011;25087613 False 3 33;33;33 30.133 True ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 5, Amish type, OMIM:605355 25430424;26296490;29178646;32994279;35510366 False 3 83;17;0 30.133 False ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert Review Green;NHS GMS;London South GLH;Expert;UKGTN Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B2, OMIM:618435 12865991;17194691 False 3 50;25;25 30.133 True ENSG00000130595 ENSG00000130595 HGNC:11950 TNPO3 gene TNPO3 Expert Review Green;Yorkshire and North East GLH;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 False 3 50;50;0 30.133 False ENSG00000064419 ENSG00000064419 HGNC:17103 TOR1AIP1 gene TOR1AIP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders 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 33215087;34164833 False 3 33;33;33 30.133 False ENSG00000143337 ENSG00000143337 HGNC:29456 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000143337 ENSG00000143337 HGNC:29456 TPM2 gene TPM2 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CAP myopathy 2, OMIM:609285;Nemaline myopathy 4, autosomal dominant, OMIM:609285 12592607;11738357;17434307;24692096;32092148;27726070;19155175;33558124 False 3 83;17;0 30.133 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CAP myopathy 1, OMIM:609284;Myopathy, congenital, with fiber-type disproportion, OMIM:255310;Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284 24692096 False 3 67;33;0 30.133 False ENSG00000143549 ENSG00000143549 HGNC:12012 TRAPPC11 gene TRAPPC11 Expert Review Green;NHS GMS;London South GLH;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 26322222;29855340 False 3 100;0;0 30.133 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC11 gene TRAPPC11 Expert Review Green;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2S, 615356 23830518;27707803 False 3 0;0;0 30.133 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRDN gene TRDN Expert Review Green;NHS GMS;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441 25922419;28202702;30649896 False 3 67;33;0 30.133 False ENSG00000186439 ENSG00000186439 HGNC:12261 TRIM32 gene TRIM32 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIP4 gene TRIP4 Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866;Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209;Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 26924529 False 3 100;0;0 30.133 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRIP4 gene TRIP4 Expert Review Green;NHS GMS;London South GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066;Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 26924529;27008887 False 3 100;0;0 30.133 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRPV4 gene TRPV4 Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Distal Congenital Nonprogressive Spinal Muscular Atrophy;Brachyolmia type 3, OMIM:113500 20037588, 20037586, 20037587 False 3 100;0;0 30.133 False ENSG00000111199 ENSG00000111199 HGNC:18083 TSFM gene TSFM Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 False 3 50;0;50 30.133 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders 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 30.133 False Other ENSG00000155657 ENSG00000155657 HGNC:12403 TTN gene TTN NHS GMS;London South GLH;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Salih myopathy, OMIM:611705 17444505;23975875;28295036 False 3 50;50;0 30.133 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTN gene TTN Expert Review Green;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tibial muscular dystrophy, tardive, 600334 12145747 False 3 100;0;0 30.133 False ENSG00000155657 ENSG00000155657 HGNC:12403 TYMP gene TYMP Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Literature;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 25929793 False 3 0;0;100 30.133 False ENSG00000025708 ENSG00000025708 HGNC:3148 UBA1 gene UBA1 Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services 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) Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 23518311 False 3 100;0;0 30.133 False ENSG00000130985 ENSG00000130985 HGNC:12469 UNC45B gene UNC45B NHS GMS;Expert Review Green;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 11, OMIM:619178 33217308;31852522;35292251 False 3 100;0;0 30.133 False ENSG00000141161 ENSG00000141161 HGNC:14304 VAMP1 gene VAMP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25, OMIM:618323 28168212;28253535 False 3 100;0;0 30.133 False ENSG00000139190 ENSG00000139190 HGNC:12642 VCP gene VCP Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Other rare neuromuscular disorders 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 30.133 False ENSG00000165280 ENSG00000165280 HGNC:12666 VCP gene VCP Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 21684747 False 3 100;0;0 30.133 False ENSG00000165280 ENSG00000165280 HGNC:12666 VMA21 gene VMA21 NHS GMS;London South GLH;Expert Review Green;Expert Review Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, X-linked, with excessive autophagy, OMIM:310440 23315026 False 3 67;33;0 30.133 True ENSG00000160131 ENSG00000160131 HGNC:22082 VMA21 gene VMA21 Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 False ENSG00000160131 ENSG00000160131 HGNC:22082 VRK1 gene VRK1 Expert Review Green;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, OMIM:607596 19646678, 27281532 False 3 100;0;0 30.133 False ENSG00000100749 ENSG00000100749 HGNC:12718 ZC4H2 gene ZC4H2 Expert Review Green;NHS GMS;London South GLH 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) Wieacker-Wolff syndrome, OMIM:314580;Wieacker-Wolff syndrome, female-restricted, OMIM:301041 23623388;26056227 False 3 100;0;0 30.133 False ENSG00000126970 ENSG00000126970 HGNC:24931 ACTA1 gene ACTA1 Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal CMD with rigid spine;Nemaline myopathy 3, autosomal dominant or recessive 161800;Myopathy, congenital, with fiber-type disproportion 1 255310 24642510;25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele);25913210;26436962;20179953 False 2 0;50;50 30.133 False ENSG00000143632 ENSG00000143632 HGNC:129 ALS2 gene ALS2 Expert Review Amber;Literature;Illumina TruGenome Clinical Sequencing Services;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Spastic paralysis, infantile onset ascending, OMIM:607225 11586297; 20018642 False 2 67;33;0 30.133 False ENSG00000003393 ENSG00000003393 HGNC:443 ANXA11 gene ANXA11 Expert Review Amber;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000122359 ENSG00000122359 HGNC:535 ATP7A gene ATP7A Expert Review Amber;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, OMIM:309400;Occipital horn syndrome, OMIM:304150;Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 False 2 0;100;0 30.133 False ENSG00000165240 ENSG00000165240 HGNC:869 CASQ1 gene CASQ1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;Expert Review Other rare neuromuscular disorders 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 30.133 False ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert Review Amber;NHS GMS;London South GLH;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, centronuclear, 4, OMIM:614807 22818856;25635128 False 2 29;43;29 30.133 False ENSG00000162004 ENSG00000162004 HGNC:14153 CIAO1 gene CIAO1 Literature;Expert Review Amber Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 2 100;0;0 30.133 False ENSG00000144021 ENSG00000144021 HGNC:14280 CNTN1 gene CNTN1 NHS GMS;London South GLH;Expert Review Amber;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Compton-North, OMIM:612540 19026398;32779773 False 2 20;60;20 30.133 False ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review Amber;NHS GMS;London South GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773;autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 32842921;28056338;22037604;21625620;18160688;20818663 False 2 40;40;20 30.133 False ENSG00000187498 ENSG00000187498 HGNC:2202 DHX16 gene DHX16 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 31256877 False 2 0;100;0 30.133 False ENSG00000204560 ENSG00000204560 HGNC:2739 DPM1 gene DPM1 NHS GMS;London South GLH;Expert Review Amber;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 10642597;10642602;15669674;16641202;23856421;27481510;28139241;30653653 False 2 33;67;0 30.133 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders 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 30.133 True ENSG00000179085 ENSG00000179085 HGNC:3007 DST gene DST Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 2 100;0;0 30.133 False ENSG00000151914 ENSG00000151914 HGNC:1090 DYSF gene DYSF Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768 25821721 False 2 0;100;0 30.133 False ENSG00000135636 ENSG00000135636 HGNC:3097 EXOSC8 gene EXOSC8 Expert Review Amber;UKGTN;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081;neuronopathy, distal hereditary motor, MONDO:0000075 24989451 False 2 33;67;0 30.133 False ENSG00000120699 ENSG00000120699 HGNC:17035 FLNC gene FLNC NHS GMS;Expert Review;Expert Review Amber;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 4, OMIM:614065;Myopathy, myofibrillar, 5, OMIM:609524 29858533 False 2 0;0;100 30.133 False ENSG00000128591 ENSG00000128591 HGNC:3756 GUK1 gene GUK1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071 39230499 False 2 100;0;0 30.133 False ENSG00000143774 ENSG00000143774 HGNC:4693 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949 34291734;34722876;39072769 False 2 100;0;0 30.133 False ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Other rare neuromuscular disorders 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 30.133 False ENSG00000135486 ENSG00000135486 HGNC:5031 HSPB1 gene HSPB1 Expert Review Amber;Expert Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIB, OMIM:608634;Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 15122254 False 2 0;0;100 30.133 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review Amber;Expert Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIA, OMIM:158590 15122253;26718575 False 2 0;0;100 30.133 False ENSG00000152137 ENSG00000152137 HGNC:30171 LAMP2 gene LAMP2 NHS GMS;London South GLH;Expert Review Amber;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) Danon disease, OMIM:300257 12084876;21415759 False 2 33;67;0 30.133 True ENSG00000005893 ENSG00000005893 HGNC:6501 LRIF1 gene LRIF1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 30.133 False ENSG00000121931 ENSG00000121931 HGNC:30299 LRIF1 gene LRIF1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 30.133 False ENSG00000121931 ENSG00000121931 HGNC:30299 MTMR14 gene MTMR14 NHS GMS;London South GLH;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 19465920 False 2 67;33;0 30.133 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-TA gene MT-TA Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 11715067;14569122;17825557 False 2 0;100;0 30.133 False Other ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TG gene MT-TG Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL mitochondrial encephalomyopathy, MONDO:0004675 11971101;16120360 False 2 50;50;0 30.133 False Other ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TP gene MT-TP Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 7689388;32305257 False 2 0;100;0 30.133 False Other ENSG00000210196 ENSG00000210196 HGNC:7494 MYBPC3 gene MYBPC3 NHS GMS;London South GLH;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197 19858127 False 2 67;33;0 30.133 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYF5 gene MYF5 Expert Review Amber;Literature;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 29887215 False 2 0;67;33 30.133 False Other ENSG00000111049 ENSG00000111049 HGNC:7565 MYH1 gene MYH1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 2 0;100;0 30.133 False ENSG00000109061 ENSG00000109061 HGNC:7567 NEFL gene NEFL Expert Review Amber;UCL Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline Myopathy 25264603 False 2 0;0;0 30.133 True ENSG00000104725 ENSG00000277586 HGNC:7739 PABPN1 gene PABPN1 Expert Review Amber;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000100836 ENSG00000100836 HGNC:8565 POGLUT1 gene POGLUT1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;Expert list Other rare neuromuscular disorders 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 30.133 False ENSG00000163389 ENSG00000163389 HGNC:22954 PPA2 gene PPA2 NHS GMS;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222 False 2 0;100;0 30.133 False ENSG00000138777 ENSG00000138777 HGNC:28883 RDH11 gene RDH11 Expert Review Amber;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000072042 ENSG00000072042 HGNC:17964 REEP1 gene REEP1 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751 22703882;18321925 False 2 0;50;50 30.133 False ENSG00000068615 ENSG00000068615 HGNC:25786 SETX gene SETX Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;UKGTN;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 15106121;12023320 False 2 0;100;0 30.133 False ENSG00000107290 ENSG00000107290 HGNC:445 SLC25A42 gene SLC25A42 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 26541337;29923093;29327420 False 2 0;33;67 30.133 False ENSG00000181035 ENSG00000181035 HGNC:28380 SPTAN1 gene SPTAN1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy, MONDO:0018949 40023774;40999194 False 2 100;0;0 30.133 False ENSG00000197694 ENSG00000197694 HGNC:11273 SRPK3 gene SRPK3 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Slowly progressive myopathy, digenic 16140986;38429495;39667923 False 2 100;0;0 30.133 False ENSG00000184343 ENSG00000184343 HGNC:11402 SVIL gene SVIL Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 False 2 0;100;0 30.133 False ENSG00000197321 ENSG00000197321 HGNC:11480 SVIL gene SVIL Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 32779703 False 2 0;100;0 30.133 False ENSG00000197321 ENSG00000197321 HGNC:11480 TCAP gene TCAP Expert Review Amber;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 23479141;21530252 False 2 0;50;50 30.133 False ENSG00000173991 ENSG00000173991 HGNC:11610 TK2 gene TK2 Expert Review Amber;NHS GMS Other rare neuromuscular disorders 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 30.133 False ENSG00000166548 ENSG00000166548 HGNC:11831 TK2 gene TK2 Expert Review Amber;NHS GMS Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 11687801;18021809;18819985;19736010;38544965;40098049 False 2 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166548 ENSG00000166548 HGNC:11831 UNC13A gene UNC13A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal congenital myasthenic syndrome, MONDO:0018940;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455 27648472;28192369;39634123 False 2 25;25;50 30.133 False ENSG00000130477 ENSG00000130477 HGNC:23150 VAPB gene VAPB Expert Review Amber;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980;Amyotrophic lateral sclerosis 8, OMIM:608627 15372378 False 2 0;33;67 30.133 False ENSG00000124164 ENSG00000124164 HGNC:12649 VWA1 gene VWA1 Expert Review Amber;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 33459760;39502942 False 2 0;100;0 30.133 False ENSG00000179403 ENSG00000179403 HGNC:30910 AR_CAG str AR Expert Review Green;NHS GMS;Expert list 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) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 3 0;0;0 30.133 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 AR_CAG str AR Expert Review Green;NHS GMS;Literature 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) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 20301508;2062380;11436124 False 3 100;0;0 30.133 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 AR_CAG str AR Expert Review Green;NHS GMS;Expert list 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) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 3 0;0;0 30.133 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 CNBP_CCTG str CNBP Expert Review Green;NHS GMS;Expert list Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 3 100;0;0 30.133 False ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CCTG 27 75 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert list Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 100;0;0 30.133 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 0;0;0 30.133 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 PABPN1_GCN str PABPN1 Expert Review Amber;Literature Other rare neuromuscular disorders 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 30.133 False ENSG00000100836 ENSG00000100836 HGNC:8565 14 23790682 23790711 23321473 23321501 GCN 10 11 ISCA-37408-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies 16963482;22579565;18245392 False 3 0;0;0 30.133 False 2 58912065 62261736 3 60 cnv_loss 2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies 16963482;22579565;18245392 False 3 0;0;0 30.133 False 2 58912065 62261736 3 60 cnv_loss 2p15p16.1 region (includes BCL11A) Loss ISCA-37420-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, OMIM:610443;Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features 25217958;18628315 False 3 0;0;0 30.133 False 17 45627800 46087514 3 60 cnv_loss 17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, OMIM:610443;Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature 25217958;18628315 False 3 0;0;0 30.133 False 17 45627800 46087514 3 60 cnv_loss 17q21.3 recurrent region (includes KANSL1) Loss ISCA-37429-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 0;0;0 30.133 False 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 0;0;0 30.133 False 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37478-Loss region Expert Review Green;ClinGen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830 22045295;7611294 False 3 0;0;0 30.133 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss