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 AGRN gene AGRN Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000188157 ENSG00000188157 HGNC:329 ALG14 gene ALG14 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227 28733338;23404334;30221345 False 3 67;33;0 5.8 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228 23404334 False 3 67;33;0 5.8 False ENSG00000119523 ENSG00000119523 HGNC:23159 CHAT gene CHAT Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210 11172068;12756141 False 3 67;33;0 5.8 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False Other - please provide details in the comments ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False Other - please provide details in the comments ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False Other - please provide details in the comments ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal transient neonatal myasthenia gravis, MONDO:0018326 16826531;22167768;27245440;25411939;8040310;16826520 False 3 67;33;0 5.8 False ENSG00000196811 ENSG00000196811 HGNC:1967 COL13A1 gene COL13A1 Eligibility statement prior genetic testing;Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, OMIM:616720 26626625 False 3 67;33;0 5.8 False ENSG00000197467 ENSG00000197467 HGNC:2190 COLQ gene COLQ Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, OMIM:603034 10665486;9689136;18180250;10441569 False 3 67;33;0 5.8 False ENSG00000206561 ENSG00000206561 HGNC:2226 DOK7 gene DOK7 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, OMIM:254300 16917026;17452375;22661499;18626973;36579833 False 3 67;33;0 5.8 False ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750 22742743;23278575;23447650;23591138;25500013 False 3 67;33;0 5.8 False ENSG00000172269 ENSG00000172269 HGNC:2995 GFPT1 gene GFPT1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542 21975507;21310273;22230109;23569079 False 3 67;33;0 5.8 False ENSG00000198380 ENSG00000198380 HGNC:4241 GMPPB gene GMPPB Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000173540 ENSG00000173540 HGNC:22932 LRP4 gene LRP4 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 17, OMIM:616304 24234652;26052878 False 3 67;33;0 5.8 False ENSG00000134569 ENSG00000134569 HGNC:6696 MUSK gene MUSK Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000030304 ENSG00000030304 HGNC:7525 MYO9A gene MYO9A Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000066933 ENSG00000066933 HGNC:7608 PLEC gene PLEC Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000178209 ENSG00000178209 HGNC:9069 RAPSN gene RAPSN Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000165917 ENSG00000165917 HGNC:9863 SCN4A gene SCN4A Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000007314 ENSG00000007314 HGNC:10591 SLC18A3 gene SLC18A3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239 27590285 False 3 67;33;0 5.8 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC25A1 gene SLC25A1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197 26870663 False 3 0;100;0 5.8 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC5A7 gene SLC5A7 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 27569547;23141292;26786006;36611016 False 3 67;33;0 5.8 False ENSG00000115665 ENSG00000115665 HGNC:14025 SYT2 gene SYT2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000143858 ENSG00000143858 HGNC:11510 TOR1AIP1 gene TOR1AIP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000143337 ENSG00000143337 HGNC:29456 VAMP1 gene VAMP1 Expert Review Green;Literature;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25, OMIM:618323 28168212;28253535 False 3 100;0;0 5.8 False ENSG00000139190 ENSG00000139190 HGNC:12642 CIAO1 gene CIAO1 Expert Review Amber;Literature Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 2 100;0;0 5.8 False ENSG00000144021 ENSG00000144021 HGNC:14280 UNC13A gene UNC13A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome 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 5.8 False ENSG00000130477 ENSG00000130477 HGNC:23150 CACNA1A gene CACNA1A NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lambert-Eaton myasthenic syndrome, MONDO:0018556 11723274 False 1 0;0;100 5.8 False ENSG00000141837 ENSG00000141837 HGNC:1388 LAMA5 gene LAMA5 NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal myopia, facial tics, and failure of neuromuscular transmission 28544784 False 1 0;0;100 5.8 False ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 Literature;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome 19251977;27472506 (Review) False 1 0;50;50 5.8 False ENSG00000172037 ENSG00000172037 HGNC:6487 PREPL gene PREPL Literature;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal myasthenic syndrome;congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency;?Myasthenic syndrome, congenital, 22, 616224 29483676;28726805;24610330;27472506 False 1 0;50;50 5.8 False ENSG00000138078 ENSG00000138078 HGNC:30228 RYR1 gene RYR1 NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology BIALLELIC, autosomal or pseudoautosomal RYR1-related congenital myopathy 24951453;30808424;30406384;17483490 False 1 0;50;50 5.8 False ENSG00000196218 ENSG00000196218 HGNC:10483 SNAP25 gene SNAP25 Literature;NHS GMS;Other;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myasthenic syndrome, congenital, 18, 616330 25381298; 27472506 (Review) False 1 0;0;100 5.8 False ENSG00000132639 ENSG00000132639 HGNC:11132 SYT15 gene SYT15 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Congenital myaesthenic syndrome Neurology False 1 0;50;50 5.8 False ENSG00000204176 ENSG00000204176 HGNC:17167