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 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