Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTA1 gene ACTA1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 False ENSG00000077522 ENSG00000077522 HGNC:164 ADSSL1 gene ADSSL1 Expert Review;Expert Review Green;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, 5, OMIM:617030 28268051;26506222 False 3 67;0;33 6.45 False Other ENSG00000185100 ENSG00000185100 HGNC:20093 ASCC1 gene ASCC1 Expert Review Green;Literature;NHS GMS Congenital myopathy 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 6.45 False Other ENSG00000138303 ENSG00000138303 HGNC:24268 ASCC3 gene ASCC3 Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 21937992;26350204;35047834;39286456 False 3 100;0;0 6.45 False ENSG00000112249 ENSG00000112249 HGNC:18697 BIN1 gene BIN1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, OMIM:255200 17676042;25260562;27854204;29103045 False 3 75;25;0 6.45 False ENSG00000136717 ENSG00000136717 HGNC:1052 CACNA1S gene CACNA1S Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy, MONDO:0019952 28012042 False 3 67;33;0 6.45 True ENSG00000081248 ENSG00000081248 HGNC:1397 CFL2 gene CFL2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, OMIM:610687 22560515;17160903;24610938;32160286 False 3 50;25;25 6.45 False ENSG00000165410 ENSG00000165410 HGNC:1875 CIAO1 gene CIAO1 Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 3 100;0;0 6.45 False ENSG00000144021 ENSG00000144021 HGNC:14280 COL12A1 gene COL12A1 Expert Review Green;London South GLH;NHS GMS;UCL Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal EDS/myopathy overlap syndrome 24334604 False 3 50;50;0 6.45 True ENSG00000111799 ENSG00000111799 HGNC:2188 COL13A1 gene COL13A1 Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, OMIM:616720 30767057;31018245;31449669 False 3 100;0;0 6.45 False Other ENSG00000197467 ENSG00000197467 HGNC:2190 COL25A1 gene COL25A1 Expert list;Expert Review;Expert Review Green;Literature;NHS GMS;Research Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder 35077597 False 3 100;0;0 6.45 False Other ENSG00000188517 ENSG00000188517 HGNC:18603 COL6A1 gene COL6A1 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 15689448 False 3 75;25;0 6.45 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Emory Genetics Laboratory;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 15689448 False 3 75;25;0 6.45 False ENSG00000163359 ENSG00000163359 HGNC:2213 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 67;33;0 6.45 False ENSG00000156885 ENSG00000156885 HGNC:2279 DNAJB4 gene DNAJB4 Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal congenital myopathy with early respiratory failure 36264506 False 3 100;0;0 6.45 False Other ENSG00000162616 ENSG00000162616 HGNC:14886 DNM2 gene DNM2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 False ENSG00000175920 ENSG00000175920 HGNC:26594 ECEL1 gene ECEL1 Expert;Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, OMIM:615065 23261301;30131190 False 3 33;33;33 6.45 True ENSG00000171551 ENSG00000171551 HGNC:3147 EPG5 gene EPG5 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, OMIM:242840 23222957 False 3 67;33;0 6.45 True ENSG00000152223 ENSG00000152223 HGNC:29331 FKBP14 gene FKBP14 Expert Review Green;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 22265013 False 3 100;0;0 6.45 False ENSG00000106080 ENSG00000106080 HGNC:18625 FXR1 gene FXR1 Expert Review;Expert Review Green Congenital myopathy 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 6.45 False ENSG00000114416 ENSG00000114416 HGNC:4023 GBE1 gene GBE1 Expert Review;Expert Review Green;Literature;NHS GMS Congenital myopathy 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 6.45 False Other ENSG00000114480 ENSG00000114480 HGNC:4180 GFER gene GFER Expert Review Green;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 19409522;28155230 False 3 40;20;40 6.45 False ENSG00000127554 ENSG00000127554 HGNC:4236 HACD1 gene HACD1 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, nonprogressive, OMIM:619967 23933735;15829503;32426512;33354762 False 3 75;25;0 6.45 True ENSG00000165996 ENSG00000165996 HGNC:9639 HNRNPA2B1 gene HNRNPA2B1 Expert list;Expert Review Green;Literature;NHS GMS Congenital myopathy 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 6.45 False ENSG00000122566 ENSG00000122566 HGNC:5033 KBTBD13 gene KBTBD13 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline myopathy 6, autosomal dominant, OMIM:609273 21109227 False 3 75;25;0 6.45 False ENSG00000234438 ENSG00000234438 HGNC:37227 KLHL40 gene KLHL40 Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, OMIM:615348 23746549;36322148 False 3 75;25;0 6.45 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, OMIM:615731 24268659 False 3 75;25;0 6.45 False ENSG00000239474 ENSG00000239474 HGNC:16905 KY gene KY Expert Review Green;NHS GMS;UCL Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 7, OMIM:617114 11136708;27485408;27484770;30591934 False 3 100;0;0 6.45 True ENSG00000174611 ENSG00000174611 HGNC:26576 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 6.45 False ENSG00000168924 ENSG00000168924 HGNC:6556 LMNA gene LMNA Expert Review Green;NHS GMS Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital fiber type disproportion myopathy 24642510 False 3 0;0;0 6.45 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD3 gene LMOD3 Expert Review Green;Literature;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, OMIM:616165 PMID 25250574 False 3 75;25;0 6.45 False ENSG00000163380 ENSG00000163380 HGNC:6649 MAP3K20 gene MAP3K20 Expert Review Green;London South GLH;NHS GMS;UCL Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 27816943 False 3 50;50;0 6.45 True ENSG00000091436 ENSG00000091436 HGNC:17797 MEGF10 gene MEGF10 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy 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 6.45 False ENSG00000145794 ENSG00000145794 HGNC:29634 MICU1 gene MICU1 Expert Review Green;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, OMIM:615673 24336167 False 3 100;0;0 6.45 False ENSG00000107745 ENSG00000107745 HGNC:1530 MLIP gene MLIP Expert Review Green;Literature;NHS GMS Congenital myopathy 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 6.45 False ENSG00000146147 ENSG00000146147 HGNC:21355 MTM1 gene MTM1 Emory Genetics Laboratory;Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000171100 ENSG00000171100 HGNC:7448 MYBPC1 gene MYBPC1 Expert;Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYH2 gene MYH2 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 Expert;Expert Review Green;London South GLH;NHS GMS;UKGTN Congenital myopathy 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 6.45 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH7 gene MYH7 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL1 gene MYL1 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 21063730;30215711 False 3 100;0;0 6.45 True ENSG00000168530 ENSG00000168530 HGNC:7582 MYL2 gene MYL2 Expert list;Expert Review Green;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 23365102;27378946;33731536 False 3 50;50;0 6.45 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYMK gene MYMK Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940 28681861 False 3 100;0;0 6.45 False ENSG00000187616 ENSG00000187616 HGNC:33778 MYMX gene MYMX Expert Review Green;Literature;NHS GMS Congenital myopathy 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 6.45 False ENSG00000262179 ENSG00000262179 HGNC:52391 MYO18B gene MYO18B Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 True ENSG00000133454 ENSG00000133454 HGNC:18150 MYOD1 gene MYOD1 Expert Review Green;Literature;NHS GMS Congenital myopathy 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 6.45 False ENSG00000129152 ENSG00000129152 HGNC:7611 MYPN gene MYPN Expert Review Green;London South GLH;NHS GMS;UCL Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 11, autosomal recessive, OMIM:617336 28220527;28017374 False 3 100;0;0 6.45 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEB gene NEB Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, OMIM:256030 12207937;30679003;39474605 False 3 75;25;0 6.45 False ENSG00000183091 ENSG00000183091 HGNC:7720 ORAI1 gene ORAI1 Expert;Expert Review Green;London South GLH;NHS GMS;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2, OMIM:615883 28058752;25227914 False 3 75;25;0 6.45 False ENSG00000182500 ENSG00000276045 HGNC:25896 PAX7 gene PAX7 Expert Review;Expert Review Green;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, progressive, with scoliosis, OMIM:618578 31092906 False 3 100;0;0 6.45 False ENSG00000009709 ENSG00000009709 HGNC:8621 PIEZO2 gene PIEZO2 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 True ENSG00000154864 ENSG00000154864 HGNC:26270 PYROXD1 gene PYROXD1 Expert Review;Expert Review Green Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8, OMIM:617258 27745833;31455395 False 3 50;50;0 6.45 False ENSG00000121350 ENSG00000121350 HGNC:26162 RFC4 gene RFC4 Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal congenital myopathy, MONDO:0019952 39106866 False 3 100;0;0 6.45 False ENSG00000163918 ENSG00000163918 HGNC:9972 RYR1 gene RYR1 Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR3 gene RYR3 Expert Review;Expert Review Green;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 20, OMIM:620310;Nemaline myopathy, MONDO:0018958 29498452 False 3 50;50;0 6.45 False ENSG00000198838 ENSG00000198838 HGNC:10485 SCN4A gene SCN4A Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy, MONDO:0019952 26700687 False 3 67;33;0 6.45 True ENSG00000007314 ENSG00000007314 HGNC:10591 SELENON gene SELENON Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, OMIM:602771 26780752;16365872;23217329 False 3 50;50;0 6.45 False ENSG00000162430 ENSG00000162430 HGNC:15999 SLC25A4 gene SLC25A4 Expert Review Green;Literature Congenital myopathy 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 6.45 True ENSG00000151729 ENSG00000151729 HGNC:10990 SPEG gene SPEG Expert Review Green;Literature;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, OMIM:615959 25087613 False 3 75;25;0 6.45 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPTBN4 gene SPTBN4 Expert Review Green;NHS GMS;Other Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;29861105;31850074;33772159 False 3 100;0;0 6.45 False ENSG00000160460 ENSG00000160460 HGNC:14896 SRPK3 gene SRPK3 Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Slowly progressive myopathy, digenic 16140986;38429495;39667923 False 3 67;17;17 6.45 False ENSG00000184343 ENSG00000184343 HGNC:11402 STAC3 gene STAC3 Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, OMIM:255995 23736855;28003463 False 3 50;25;25 6.45 True ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert;Expert Review Green;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 1, OMIM:160565 23332920 False 3 75;25;0 6.45 False ENSG00000167323 ENSG00000167323 HGNC:11386 TNNC2 gene TNNC2 Expert Review Green;London South GLH;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161 33755597 False 3 67;33;0 6.45 False ENSG00000101470 ENSG00000101470 HGNC:11944 TNNI1 gene TNNI1 Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Hypocontractile muscle disease 38569017;34934811 False 3 100;0;0 6.45 False ENSG00000159173 ENSG00000159173 HGNC:11945 TNNI2 gene TNNI2 Expert;Expert Review Green;London South GLH;NHS GMS;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B1, OMIM:601680 16924011;25087613 False 3 33;33;33 6.45 True ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert;Expert Review Green;London South GLH;NHS GMS;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B2, OMIM:618435 12865991;17194691 False 3 50;25;25 6.45 True ENSG00000130595 ENSG00000130595 HGNC:11950 TPM2 gene TPM2 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy 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 6.45 False ENSG00000143549 ENSG00000143549 HGNC:12012 TRDN gene TRDN Expert list;Expert Review Green;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441 25922419;28202702;30649896 False 3 67;33;0 6.45 False ENSG00000186439 ENSG00000186439 HGNC:12261 TRIP4 gene TRIP4 Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 False ENSG00000103671 ENSG00000103671 HGNC:12310 TTN gene TTN Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Salih myopathy, OMIM:611705 17444505;23975875;28295036 False 3 50;50;0 6.45 False ENSG00000155657 ENSG00000155657 HGNC:12403 UNC45B gene UNC45B Expert Review Green;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 11, OMIM:619178 33217308;31852522;35292251 False 3 100;0;0 6.45 False ENSG00000141161 ENSG00000141161 HGNC:14304 VMA21 gene VMA21 Expert Review;Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 True ENSG00000160131 ENSG00000160131 HGNC:22082 ZC4H2 gene ZC4H2 Expert Review Green;London South GLH;NHS GMS Congenital myopathy 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 6.45 False ENSG00000126970 ENSG00000126970 HGNC:24931 CCDC78 gene CCDC78 Expert;Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, centronuclear, 4, OMIM:614807 22818856;25635128 False 2 29;43;29 6.45 False ENSG00000162004 ENSG00000162004 HGNC:14153 CNTN1 gene CNTN1 Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Compton-North, OMIM:612540 19026398;32779773 False 2 20;60;20 6.45 False ENSG00000018236 ENSG00000018236 HGNC:2171 DHX16 gene DHX16 Expert Review Amber;Literature Congenital myopathy 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 6.45 False ENSG00000204560 ENSG00000204560 HGNC:2739 DST gene DST Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 2 100;0;0 6.45 False ENSG00000151914 ENSG00000151914 HGNC:1090 FLNC gene FLNC Expert Review;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 4, OMIM:614065;Myopathy, myofibrillar, 5, OMIM:609524 29858533 False 2 0;0;100 6.45 False ENSG00000128591 ENSG00000128591 HGNC:3756 LAMP2 gene LAMP2 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital myopathy 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 6.45 True ENSG00000005893 ENSG00000005893 HGNC:6501 MTMR14 gene MTMR14 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 19465920 False 2 67;33;0 6.45 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-TA gene MT-TA Expert Review Amber;Literature Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 11715067;14569122;17825557 False 2 0;100;0 6.45 False Other ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TG gene MT-TG Expert Review Amber;Literature Congenital myopathy Neurology MITOCHONDRIAL mitochondrial encephalomyopathy, MONDO:0004675 11971101;16120360 False 2 50;50;0 6.45 False Other ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TP gene MT-TP Expert Review Amber;Literature Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 7689388;32305257 False 2 0;100;0 6.45 False Other ENSG00000210196 ENSG00000210196 HGNC:7494 MYBPC3 gene MYBPC3 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197 19858127 False 2 67;33;0 6.45 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYF5 gene MYF5 Expert list;Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 29887215 False 2 0;67;33 6.45 False Other ENSG00000111049 ENSG00000111049 HGNC:7565 NEFL gene NEFL Expert Review Amber;UCL Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline Myopathy 25264603 False 2 0;0;0 6.45 True ENSG00000104725 ENSG00000277586 HGNC:7739 PPA2 gene PPA2 Expert Review;Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222 False 2 0;100;0 6.45 False ENSG00000138777 ENSG00000138777 HGNC:28883 SLC25A42 gene SLC25A42 Expert Review Amber;Literature Congenital myopathy 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 6.45 False ENSG00000181035 ENSG00000181035 HGNC:28380 SVIL gene SVIL Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 32779703 False 2 0;100;0 6.45 False ENSG00000197321 ENSG00000197321 HGNC:11480 VWA1 gene VWA1 Expert Review Amber;Literature;NHS GMS Congenital myopathy 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 6.45 False ENSG00000179403 ENSG00000179403 HGNC:30910 ATP2A1 gene ATP2A1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, OMIM:601003 False 1 0;0;100 6.45 False ENSG00000196296 ENSG00000196296 HGNC:811 BAG3 gene BAG3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6, OMIM:612954 19085932 False 1 0;0;100 6.45 True ENSG00000151929 ENSG00000151929 HGNC:939 CASQ1 gene CASQ1 Expert Review Red;London South GLH;NHS GMS;UCL Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231;myopathy due to calsequestrin and SERCA1 protein overload, MONDO:0014546 30258016;25116801;26136523 False 1 20;40;40 6.45 True ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, OMIM:614321 False 1 0;0;100 6.45 False ENSG00000182533 ENSG00000182533 HGNC:1529 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911;Spinal muscular atrophy, Jokela type, OMIM:615048 25193783 False 1 0;0;100 6.45 False ENSG00000250479 ENSG00000250479 HGNC:15559 COL9A3 gene COL9A3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 10655510;10678658 False 1 0;0;100 6.45 False ENSG00000092758 ENSG00000092758 HGNC:2219 CPT2 gene CPT2 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 16602102 False 1 0;0;100 6.45 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 2, OMIM:608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 21337604 False 1 0;0;100 6.45 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 1, OMIM:601419;Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 False 1 0;0;100 6.45 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMPK gene DMPK Expert Review Red;UKGTN Congenital myopathy Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 33;0;67 6.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJB6 gene DNAJB6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 False 1 0;0;100 6.45 False ENSG00000105993 ENSG00000105993 HGNC:14888 DYSF gene DYSF Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1 254130;Muscular dystrophy, limb-girdle, type 2B 253601;Myopathy, distal, with anterior tibial onset 606768 False 1 0;0;100 6.45 False ENSG00000135636 ENSG00000135636 HGNC:3097 FAM111B gene FAM111B Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 24268661 False 1 0;0;100 6.45 False ENSG00000189057 ENSG00000189057 HGNC:24200 FHL1 gene FHL1 Expert Review;Expert Review Red;NHS GMS Congenital myopathy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 False 1 0;100;0 6.45 False ENSG00000022267 ENSG00000022267 HGNC:3702 GNE gene GNE Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, OMIM:605820 False 1 0;0;100 6.45 False ENSG00000159921 ENSG00000159921 HGNC:23657 HNRNPA1 gene HNRNPA1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 False 1 0;0;100 6.45 False ENSG00000135486 ENSG00000135486 HGNC:5031 HRAS gene HRAS Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, OMIM:218040;Congenital myopathy with excess of muscle spindles, OMIM:218040 17412879 False 1 0;50;50 6.45 False ENSG00000174775 ENSG00000174775 HGNC:5173 HTRA2 gene HTRA2 Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, OMIM:617248 27208207;27696117 False 1 100;0;0 6.45 False ENSG00000115317 ENSG00000115317 HGNC:14348 ISCU gene ISCU Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 18296749 False 1 0;0;100 6.45 False ENSG00000136003 ENSG00000136003 HGNC:29882 KLHL9 gene KLHL9 London South GLH;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early onset distal myopathy;Nemaline myopathy 23746549;20554658 False 1 50;25;25 6.45 False ENSG00000198642 ENSG00000198642 HGNC:18732 LDB3 gene LDB3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 4, OMIM:609452 15668942 False 1 0;0;100 6.45 False ENSG00000122367 ENSG00000122367 HGNC:15710 LGI4 gene LGI4 Expert Review Red;Literature;NHS GMS;Other Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 28318499;15857855;16341215 False 1 0;100;0 6.45 False ENSG00000153902 ENSG00000153902 HGNC:18712 MATR3 gene MATR3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 24686783 False 1 0;0;100 6.45 False ENSG00000015479 ENSG00000015479 HGNC:6912 MB gene MB Expert Review Red;Other Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, sarcoplasmic body, OMIM:620286 30918256;35527200;34679218 False 1 33;0;67 6.45 False ENSG00000198125 ENSG00000198125 HGNC:6915 MT-TE gene MT-TE Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637;congenital myopathy, MONDO:0019952 7726155;10392369;15607216;21194154;21931168;33128823 False 1 50;0;50 6.45 False Other ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TK gene MT-TK Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL MERRF syndrome, MONDO:0010790;inborn mitochondrial myopathy, MONDO:0009637 1463006;8228033 False 1 50;0;50 6.45 False Other ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Red;NHS GMS;UKGTN Congenital myopathy Neurology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;inborn mitochondrial myopathy, MONDO:0009637 8122892;8559168;18391161;33484420 False 1 25;0;75 6.45 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TN gene MT-TN Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 8254046;16908752;23696415;31026515 False 1 50;0;50 6.45 False Other ENSG00000210135 ENSG00000210135 HGNC:7493 MT-TW gene MT-TW Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 9673981;20360171;23841600 False 1 50;0;50 6.45 False Other ENSG00000210117 ENSG00000210117 HGNC:7501 MYF6 gene MYF6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy, Dominant 11053684 False 1 0;50;50 6.45 False ENSG00000111046 ENSG00000111046 HGNC:7566 MYH14 gene MYH14 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 21480433;27875632 False 1 0;50;50 6.45 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH8 gene MYH8 Expert;Expert Review Red;London South GLH;NHS GMS;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trismus-pseudocamptodactyly syndrome, OMIM:158300 17041932;22918376;17434305 False 1 29;14;57 6.45 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYOT gene MYOT Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 15111675 False 1 0;0;100 6.45 False ENSG00000120729 ENSG00000120729 HGNC:12399 PNPLA2 gene PNPLA2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 21544567 False 1 33;0;67 6.45 False ENSG00000177666 ENSG00000177666 HGNC:30802 PUS1 gene PUS1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 26556812;21686963;25227147 False 1 0;50;50 6.45 False ENSG00000177192 ENSG00000177192 HGNC:15508 RBCK1 gene RBCK1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23798481 False 1 0;50;50 6.45 False ENSG00000125826 ENSG00000125826 HGNC:15864 STIM2 gene STIM2 Expert Review Red;UKGTN Congenital myopathy Neurology Unknown False 1 0;50;50 6.45 False ENSG00000109689 ENSG00000109689 HGNC:19205 TIA1 gene TIA1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Welander distal myopathy, OMIM:604454 23401021 False 1 0;0;100 6.45 False ENSG00000116001 ENSG00000116001 HGNC:11802 VCP gene VCP Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 False 1 0;0;100 6.45 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS33B gene VPS33B Expert Review;Expert Review Red;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 15052268;16896922 False 1 67;33;0 6.45 True ENSG00000184056 ENSG00000184056 HGNC:12712 YARS2 gene YARS2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 24344687 False 1 0;50;50 6.45 False ENSG00000139131 ENSG00000139131 HGNC:24249 AR_CAG str AR Expert Review Green;NHS GMS;Expert list Congenital myopathy 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 6.45 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert list Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 100;0;0 6.45 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 ISCA-37408-Loss region Expert Review Green;ClinGen Congenital myopathy 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 6.45 False 2 58912065 62261736 3 60 cnv_loss 2p15p16.1 region (includes BCL11A) Loss ISCA-37420-Loss region Expert Review Green;ClinGen Congenital myopathy 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 6.45 False 17 45627800 46087514 3 60 cnv_loss 17q21.3 recurrent region (includes KANSL1) Loss ISCA-37429-Loss region Expert Review Green;ClinGen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 0;0;0 6.45 False 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss