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 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, actin, congenital, with excess of thin myofilaments 161800;Myopathy, congenital, with fiber-type disproportion 1, 255310;Nemaline myopathy 3, 161800;Myopathy, actin, congenital, with cores, 161800 False 3 50;50;0 0.26 False ENSG00000143632 ENSG00000143632 HGNC:129 CHRNA1 gene CHRNA1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, 253290 18252226 False 3 50;50;0 0.26 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal LMPS False 3 50;50;0 0.26 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, 253290 11435464;18252226 False 3 50;50;0 0.26 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNG gene CHRNG Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Escobar syndrome, 265000;Multiple pterygium syndrome, lethal type, 253290 False 3 50;50;0 0.26 False ENSG00000196811 ENSG00000196811 HGNC:1967 DNM2 gene DNM2 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Myopathy, centronuclear, 160150 False 3 50;50;0 0.26 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal FADS;FETAL AKINESIA DEFORMATION SEQUENCE, 208150 19261599 False 3 50;50;0 0.26 False ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal 26033833 False 3 50;50;0 0.26 False ENSG00000172269 ENSG00000172269 HGNC:2995 ECEL1 gene ECEL1 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, 615065 False 3 50;50;0 0.26 False ENSG00000171551 ENSG00000171551 HGNC:3147 LMOD3 gene LMOD3 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10 616165 False 3 50;50;0 0.26 False ENSG00000163380 ENSG00000163380 HGNC:6649 MUSK gene MUSK Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal FADS;208150;FETAL AKINESIA DEFORMATION SEQUENCE 25537362;25612909 False 3 50;50;0 0.26 False ENSG00000030304 ENSG00000030304 HGNC:7525 MYBPC1 gene MYBPC1 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lethal congenital contracture syndrome 4, 614915;Arthrogryposis, distal, type 1B 614335 False 3 50;50;0 0.26 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYH3 gene MYH3 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 8, 178110;Arthrogryposis, distal, type 2A 193700;Arthrogryposis, distal, type 2B 601680 False 3 50;50;0 0.26 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH7 gene MYH7 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing Distal Myopathy, 160500 False 3 50;50;0 0.26 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH8 gene MYH8 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trismus-pseudocamptodactyly syndrome, 158300 False 3 50;50;0 0.26 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYL1 gene MYL1 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal congenital myopathy False 3 50;50;0 0.26 False ENSG00000168530 ENSG00000168530 HGNC:7582 NEB gene NEB Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, 256030;Nemaline Myopathy, Recessive;nemaline myopathy False 3 50;50;0 0.26 False ENSG00000183091 ENSG00000183091 HGNC:7720 ORAI1 gene ORAI1 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2, 615883 False 3 50;50;0 0.26 False ENSG00000182500 ENSG00000276045 HGNC:25896 PIEZO2 gene PIEZO2 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145;Arthrogryposis, distal, with proprioception and touch, 617146 False 3 50;50;0 0.26 False ENSG00000154864 ENSG00000154864 HGNC:26270 RAPSN gene RAPSN Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal FADS;FETAL AKINESIA DEFORMATION SEQUENCE, 208150 18179903;14504330 False 3 50;50;0 0.26 False ENSG00000165917 ENSG00000165917 HGNC:9863 RYR1 gene RYR1 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuromuscular disease, congenital, with uniform type 1 fiber 117000;Malignant hyperthermia susceptibility 1 145600;Central core disease 117000;Minicore myopathy with external ophthalmoplegia 255320 29169929;23553484 False 3 67;33;0 0.26 False ENSG00000196218 ENSG00000196218 HGNC:10483 STAC3 gene STAC3 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, 255995 False 3 50;50;0 0.26 False ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 160565 False 3 50;50;0 0.26 False ENSG00000167323 ENSG00000167323 HGNC:11386 TNNI2 gene TNNI2 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis multiplex congenita, distal, type 2B, 601680 False 3 50;50;0 0.26 False ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT3 gene TNNT3 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthyrogryposis, distal, type 2B, 601680 False 3 50;50;0 0.26 False ENSG00000130595 ENSG00000130595 HGNC:11950 TPM2 gene TPM2 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAP myopathy 2 609285;Nemaline myopathy 4, autosomal dominant, 609285 False 3 50;50;0 0.26 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BOTH monoallelic and biallelic, autosomal or pseudoautosomal CAP myopathy 1, 609284;Myopathy, congenital, with fiber-type disproportion, 255310;Nemaline myopathy 1, autosomal dominant or recessive, 609284 False 3 50;50;0 0.26 False ENSG00000143549 ENSG00000143549 HGNC:12012 TTN gene TTN Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Myopathy, early-onset, with fatal cardiomyopathy, 611705 False 3 50;50;0 0.26 False ENSG00000155657 ENSG00000155657 HGNC:12403 VAMP1 gene VAMP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal presynaptic CMS;Congenital myasthenic syndrome 28253535;28168212 False 3 50;50;0 0.26 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS33B gene VPS33B Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Arthrogryposis renal dysfunction, and cholestasis 1, 208085 False 3 50;50;0 0.26 False ENSG00000184056 ENSG00000184056 HGNC:12712 ZC4H2 gene ZC4H2 Expert Review Green;London South GLH;NHS GMS Neuromuscular arthrogryposis X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wieacker-Wolff syndrome, 314580 False 3 50;50;0 0.26 False ENSG00000126970 ENSG00000126970 HGNC:24931 ALG14 gene ALG14 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227;Congenital myasthenic syndrome 23404334 False 2 0;100;0 0.26 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906 23404334 False 2 0;100;0 0.26 False ENSG00000119523 ENSG00000119523 HGNC:23159 CHAT gene CHAT Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal arthrogryposis 29189923 False 2 0;100;0 0.26 False ENSG00000070748 ENSG00000070748 HGNC:1912 GMPPB gene GMPPB Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal 30257713 False 2 0;100;0 0.26 False ENSG00000173540 ENSG00000173540 HGNC:22932 MYO9A gene MYO9A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 24, presynaptic 618198;CMS 26752647 False 2 0;100;0 0.26 False ENSG00000066933 ENSG00000066933 HGNC:7608 SCN4A gene SCN4A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown contractures 25735906 False 2 0;100;0 0.26 False ENSG00000007314 ENSG00000007314 HGNC:10591 SLC18A3 gene SLC18A3 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, 617239 27590285;28188302 False 2 0;100;0 0.26 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC5A7 gene SLC5A7 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal 27569547 False 2 0;100;0 0.26 False ENSG00000115665 ENSG00000115665 HGNC:14025 TOR1AIP1 gene TOR1AIP1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Neuromuscular arthrogryposis BIALLELIC, autosomal or pseudoautosomal 24856141 False 2 0;100;0 0.26 False ENSG00000143337 ENSG00000143337 HGNC:29456