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;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 19631309;22205389;32221959 False 3 100;0;0 1.10 True ENSG00000188157 ENSG00000188157 HGNC:329 CHAT gene CHAT Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenics syndrome associated with episodic apnea;Myasthenic syndrome, congenital, 6, presynaptic, 254210 11172068;12756141;31192527;29518833;29189923 False 3 100;0;0 1.10 True ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Myasthenic syndrome, congenital, 1A, slow-channel, 601462 26910802;10195214;12588888;15079006;18806275;7619526;8872460;9158151 False 3 100;0;0 1.10 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 8872460;8651643;27375219;32504635;10562302 False 3 100;0;0 1.10 True ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323;Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321 16916845;11435464;12499478;18398509;11782989 False 3 100;0;0 1.10 True ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809 8755487;8957026;11030414;12417530;32727330;32070632;31773638 False 3 100;0;0 1.10 True ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM# 253290;fetal akinesia deformation sequence syndrome/FADS;Neonatal congenital myasthenia;Escobar syndrome;Myasthenia gravis, neonatal transient 22167768 False 3 100;0;0 1.10 True ENSG00000196811 ENSG00000196811 HGNC:1967 COL13A1 gene COL13A1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 19, 616720 31081514;28369367;20844119 False 3 100;0;0 1.10 True ENSG00000197467 ENSG00000197467 HGNC:2190 COLQ gene COLQ Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, MIM# 603034;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency 9689136;9758617;11865139;32978031;31831253 False 3 100;0;0 1.10 True ENSG00000206561 ENSG00000206561 HGNC:2226 DOK7 gene DOK7 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial 16917026;18626973;20147321;16794080;31453852;29395672;32360404 False 3 100;0;0 1.10 True ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;Congenital disorder of glycosylation, type Ij, 608093 22742743;29356258;28712839;28662078 False 3 100;0;0 1.10 True ENSG00000172269 ENSG00000172269 HGNC:2995 GFPT1 gene GFPT1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome 21310273;30635494 False 3 100;0;0 1.10 True ENSG00000198380 ENSG00000198380 HGNC:4241 GMPPB gene GMPPB Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome False 3 100;0;0 1.10 True ENSG00000173540 ENSG00000173540 HGNC:22932 LRP4 gene LRP4 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 17, 616304 24234652;26052878;24200689 False 3 100;0;0 1.10 True ENSG00000134569 ENSG00000134569 HGNC:6696 MUSK gene MUSK Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 15496425;19949040;20371544;32253145 False 3 100;0;0 1.10 True ENSG00000030304 ENSG00000030304 HGNC:7525 PLEC gene PLEC Expert list;Expert Review Green Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epidermolysis bullosa;congenital myasthenic syndrome 31509265;21263134;20624679 False 3 100;0;0 1.10 True ENSG00000178209 ENSG00000178209 HGNC:9069 RAPSN gene RAPSN Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset 11791205;14504330;20930056;25194721 False 3 100;0;0 1.10 True ENSG00000165917 ENSG00000165917 HGNC:9863 SCN4A gene SCN4A Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 16, 614198 12766226;25707578;32849172 False 3 100;0;0 1.10 True ENSG00000007314 ENSG00000007314 HGNC:10591 SLC18A3 gene SLC18A3 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ophthalmopleggia and apnea;Myasthenic syndrome, congenital, 21, presynaptic, 617239 27590285;20123977;28188302;31059209 False 3 100;0;0 1.10 True ENSG00000187714 ENSG00000187714 HGNC:10936 SLC25A1 gene SLC25A1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 23, presynaptic;618197 26870663;31527857 False 3 100;0;0 1.10 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC5A7 gene SLC5A7 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, 617143;Hereditory motor neuropathy 27569547;29189923;30172469 False 3 100;0;0 1.10 True ENSG00000115665 ENSG00000115665 HGNC:14025 SYT2 gene SYT2 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040;Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 25192047;32776697;32250532;30533528 False 3 100;0;0 1.10 True ENSG00000143858 ENSG00000143858 HGNC:11510 VAMP1 gene VAMP1 Expert Review Green;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal presynaptic CMS;Myasthenic syndrome, congenital, 25, MIM# 618323 28168212;28253535;28600779;17102983 False 3 100;0;0 1.10 True ENSG00000139190 ENSG00000139190 HGNC:12642 ALG14 gene ALG14 Expert Review Amber;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 30221345;23404334;28733338 False 2 50;50;0 1.10 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Amber;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 23404334;24461433 False 2 0;100;0 1.10 True ENSG00000119523 ENSG00000119523 HGNC:23159 MYO9A gene MYO9A Expert Review Amber;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 24, presynaptic 618198 26752647;27259756 False 2 50;50;0 1.10 True ENSG00000066933 ENSG00000066933 HGNC:7608 PREPL gene PREPL Expert Review Amber;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency;?Myasthenic syndrome, congenital, 22, 616224 29483676;28726805;24610330;27472506 False 2 0;100;0 1.10 True ENSG00000138078 ENSG00000138078 HGNC:30228 TOR1AIP1 gene TOR1AIP1 Expert Review;Expert Review Amber Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome PMID: 34164833 False 2 0;100;0 1.10 True ENSG00000143337 ENSG00000143337 HGNC:29456 LAMA5 gene LAMA5 Expert Review Red;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Presynaptic congenital myasthenic syndrome 28544784;29377152 False 1 0;0;100 1.10 True ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 Expert Review Red;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM# 609049;congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations 19251977 False 1 0;0;100 1.10 True ENSG00000172037 ENSG00000172037 HGNC:6487 RPH3A gene RPH3A Expert Review Red;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis 29441694 False 1 0;0;100 1.10 True ENSG00000089169 ENSG00000089169 HGNC:17056 SNAP25 gene SNAP25 Expert Review Red;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myasthenic syndrome, congenital, 18, 616330 25381298 False 1 0;0;100 1.10 True ENSG00000132639 ENSG00000132639 HGNC:11132 UNC13A gene UNC13A Expert Review Red;Royal Melbourne Hospital Congenital Myasthenia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal microcephaly, cortical hyperexcitability, and fatal myasthenia;dyskinesia;autism;developmental delay 19558619;27648472 False 1 0;0;100 1.10 True ENSG00000130477 ENSG00000130477 HGNC:23150