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 list;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis 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;CMD with rigid spine 10508519 False 3 50;50;0 9.32 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTC1 gene ACTC1 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal arthrogryposis, MONDO:0019942 37457373 False 3 100;0;0 9.32 False ENSG00000159251 ENSG00000159251 HGNC:143 ADAMTS10 gene ADAMTS10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive 277600 15368195 False 3 0;100;0 9.32 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS15 gene ADAMTS15 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 12, OMIM:620545 35962790 False 3 100;0;0 9.32 False ENSG00000166106 ENSG00000166106 HGNC:16305 ADCY6 gene ADCY6 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 8, OMIM:616287;Lethal congenital contracture syndrome 8, MONDO:0014570 24319099;26257172;31846058;33820833 False 3 67;0;33 9.32 False ENSG00000174233 ENSG00000174233 HGNC:237 ADGRG6 gene ADGRG6 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9 616503 26004201 False 3 100;0;0 9.32 False ENSG00000112414 ENSG00000112414 HGNC:13841 ALG3 gene ALG3 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, 601110 26453362;28742265;16006436 False 3 50;50;0 9.32 False ENSG00000214160 ENSG00000214160 HGNC:23056 ANTXR2 gene ANTXR2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome 228600 14508707; 20301698 False 3 100;0;0 9.32 False ENSG00000163297 ENSG00000163297 HGNC:21732 ASCC1 gene ASCC1 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 2, 616867;Spinal muscular atrophy;arthrogryposis;fetal akinesia;hypotonia;contractures 26924529;30327447;28749478 False 3 100;0;0 9.32 False ENSG00000138303 ENSG00000138303 HGNC:24268 ASXL1 gene ASXL1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome, OMIM:605039;Bohring-Opitz syndrome, MONDO:0011510 21706002 False 3 100;0;0 9.32 False ENSG00000171456 ENSG00000171456 HGNC:18318 ATP1A2 gene ATP1A2 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency 30690204;31608932 False 3 0;0;0 9.32 False ENSG00000018625 ENSG00000018625 HGNC:800 B3GALNT2 gene B3GALNT2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11;congenital muscular dystrophies 23453667 False 3 100;0;0 9.32 False ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 False 3 100;0;0 9.32 False ENSG00000174684 ENSG00000174684 HGNC:15685 BICD2 gene BICD2 Expert list;Expert Review Green Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown arthrogryposis multiplex congenita;Spinal muscular atrophy, lower extremity-predominant, 2A, 615290;autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 28635954;27751653;29274205;28635954;30054298 False 3 100;0;0 9.32 False ENSG00000185963 ENSG00000185963 HGNC:17208 CACNA1E gene CACNA1E Expert Review Green Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 69, 618285;congenital joint contractures 30343943 False 3 50;50;0 9.32 False Other ENSG00000198216 ENSG00000198216 HGNC:1392 CHAT gene CHAT Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, associated with episodic apnea, 254210 20301347;11172068 False 3 100;0;0 9.32 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290 20301347 False 3 100;0;0 9.32 False Other - please provide details in the comments ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462 20301347 False 3 100;0;0 9.32 False Other - please provide details in the comments ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, OMIM:253290 20301347;16916845 False 3 100;0;0 9.32 False Other - please provide details in the comments ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis 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 20301347 False 3 100;0;0 9.32 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Escobar syndrome 265000;Multiple pterygium syndrome, lethal type 253290;Myasthenia gravis, neonatal transient (2) 16826520,16826531 False 3 100;0;0 9.32 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776 20004762, 20842734, False 3 100;0;0 9.32 False ENSG00000169105 ENSG00000169105 HGNC:24464 CNTNAP1 gene CNTNAP1 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 7, OMIM:616286 24319099;33820833 False 3 100;0;0 9.32 False ENSG00000108797 ENSG00000108797 HGNC:8011 COASY gene COASY Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, OMIM:615643;Pontocerebellar hypoplasia, type 12, OMIM:618266;arthrogryposis, MONDO:0008779 11980892;25778941;24360804;27021474;28489334;30089828;35499143;36495139 False 3 50;50;0 9.32 False ENSG00000068120 ENSG00000068120 HGNC:29932 COL12A1 gene COL12A1 Expert Review;Expert Review Green Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 2, bethlem myopathy 2 False 3 100;0;0 9.32 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL25A1 gene COL25A1 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder 35077597 False 3 100;0;0 9.32 False ENSG00000188517 ENSG00000188517 HGNC:18603 COL6A1 gene COL6A1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 False 3 100;0;0 9.32 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 1 254090;Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600 11381124 False 3 100;0;0 9.32 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, OMIM:158810;Ullrich congenital muscular dystrophy, OMIM:254090 11992252 False 3 100;0;0 9.32 False ENSG00000163359 ENSG00000163359 HGNC:2213 COLQ gene COLQ Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5 603034 9689136;11865139 False 3 100;0;0 9.32 False ENSG00000206561 ENSG00000206561 HGNC:2226 CRLF1 gene CRLF1 Expert list;Expert Review Green Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1 272430 12509788 False 3 0;100;0 9.32 False ENSG00000006016 ENSG00000006016 HGNC:2364 DAG1 gene DAG1 Emory Genetics Laboratory;Expert Review Green Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal congenital muscular dystrophies;congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9 False 3 100;0;0 9.32 False ENSG00000173402 ENSG00000173402 HGNC:2666 DHCR24 gene DHCR24 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Dermosterolsis, 602398 21559050;21671375;12457401;29175559 False 3 50;50;0 9.32 False ENSG00000116133 ENSG00000116133 HGNC:2859 DNM2 gene DNM2 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Lethal congenital contracture syndrome 5 615368 23092955 False 3 0;100;0 9.32 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenia, limb-girdle, familial, 254300;Fetal akinesia deformation sequence, 208150 16917026, 20301347 False 3 100;0;0 9.32 False ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 26033833;30653653;22742743;20301347;22786653;22492991 False 3 50;0;50 9.32 False ENSG00000172269 ENSG00000172269 HGNC:2995 DST gene DST Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 3 100;0;0 9.32 False ENSG00000151914 ENSG00000151914 HGNC:1090 DYNC1H1 gene DYNC1H1 Expert list;Expert Review Green;NHS GMS Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted arthrogryposis;neuronal migration abnormalities;Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 25609763;25512093;28554554 False 3 100;0;0 9.32 False ENSG00000197102 ENSG00000197102 HGNC:2961 EBP gene EBP Expert list;Expert Review Green Arthrogryposis Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia punctata, X-linked dominant, OMIM:302960 21634086;24704792 False 3 100;0;0 9.32 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, 615065 False 3 100;0;0 9.32 False ENSG00000171551 ENSG00000171551 HGNC:3147 ERBB3 gene ERBB3 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal ?Lethal congenital contractural syndrome 2 OMIM:607598;lethal congenital contracture syndrome 2 MONDO:0011868 17701904;12519750;33720042 False 3 67;33;0 9.32 False ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC1 gene ERCC1 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758 17273966;23623389 False 3 50;50;0 9.32 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC5 gene ERCC5 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, OMIM:616570;Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 24700531;32052936;32557569 False 3 67;33;0 9.32 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B 133540 False 3 0;0;0 9.32 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A 216400 7664335 False 3 100;0;0 9.32 False ENSG00000049167 ENSG00000049167 HGNC:3439 ERGIC1 gene ERGIC1 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100 28317099;31230720;34037256 False 3 50;50;0 9.32 False ENSG00000113719 ENSG00000113719 HGNC:29205 EXOSC3 gene EXOSC3 Expert list;Expert Review Green Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 22544365 False 3 100;0;0 9.32 False ENSG00000107371 ENSG00000107371 HGNC:17944 FAM20C gene FAM20C Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Raine syndrome 259775 17924334;10826619 False 3 100;0;0 9.32 False ENSG00000177706 ENSG00000177706 HGNC:22140 FBN2 gene FBN2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital OMIM:121050;congenital contractural arachnodactyly MONDO:0007363 7493032;33571691;25558065;28383543 False 3 100;0;0 9.32 False Other - please provide details in the comments ENSG00000138829 ENSG00000138829 HGNC:3604 FGFR2 gene FGFR2 Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 9605588 False 3 100;0;0 9.32 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATSHL syndrome, OMIM:610474;camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504 17033969;24864036;27139183;37990933 False 3 100;0;0 9.32 False ENSG00000068078 ENSG00000068078 HGNC:3690 FILIP1 gene FILIP1 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168 36344539;36943452;37163662 False 3 100;0;0 9.32 False ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP10 gene FKBP10 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 1 259450 20696291 False 3 100;0;0 9.32 False ENSG00000141756 ENSG00000141756 HGNC:18169 FKRP gene FKRP Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Fukuyama congenital muscular dystrophy;Fukuyama Congenital Muscular Dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert list;Expert Review Green Arthrogryposis Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Frontometaphyseal dysplasia 1, OMIM:305620;Otopalatodigital syndrome, type I, OMIM:311300;Otopalatodigital syndrome, type II, OMIM:304120;Terminal osseous dysplasia, OMIM:300244 26804200;30561107;20301567 False 3 100;0;0 9.32 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert list;Expert Review Green Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 0;0;0 9.32 False ENSG00000136068 ENSG00000136068 HGNC:3755 FLNC gene FLNC Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, distal, 4, OMIM:614065;Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 29858533;33060286 False 3 100;0;0 9.32 False ENSG00000128591 ENSG00000128591 HGNC:3756 GBA gene GBA Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal 608013 10649495 False 3 100;0;0 9.32 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 8613547 False 3 100;0;0 9.32 False ENSG00000114480 ENSG00000114480 HGNC:4180 GLDN gene GLDN Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 11, OMIM:617194 27616481;33820833 False 3 100;0;0 9.32 False ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, 253310;Arthrogryposis, lethal, with anterior horn cell disease, 611890;lethal arthrogryposis with anterior horn cell disease PMID: 18204449 (Finish cases);PMID: 23421748 a case report where they find a heterozygous variant in GLE1 but cannot be sure whether this is the causative variant. False 3 100;0;0 9.32 False ENSG00000119392 ENSG00000119392 HGNC:4315 GMPPB gene GMPPB Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000173540 ENSG00000173540 HGNC:22932 HSPG2 gene HSPG2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717 11101850, 155254 False 3 100;0;0 9.32 False ENSG00000142798 ENSG00000142798 HGNC:5273 IRF6 gene IRF6 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Popliteal pterygium syndrome 1 119500 12219090 False 3 100;0;0 9.32 False ENSG00000117595 ENSG00000117595 HGNC:6121 ISPD gene ISPD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000214960 ENSG00000214960 HGNC:37276 KAT6B gene KAT6B Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genitopatellar syndrome 606170 False 3 100;0;0 9.32 False Other - please provide details in the comments ENSG00000156650 ENSG00000156650 HGNC:17582 KCNK3 gene KCNK3 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental disorder with sleep apnea 36195757 False 3 100;0;0 9.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171303 ENSG00000171303 HGNC:6278 KIAA1109 gene KIAA1109 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal "Alkuraya-Kucinskas syndrome 617822" 25558065;29290337 False 3 100;0;0 9.32 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly and arthrogryposis, OMIM:619501 32909676;33205811;28934391;22048169 False 3 100;0;0 9.32 False ENSG00000134313 ENSG00000134313 HGNC:29508 KIF21A gene KIF21A Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0008779;fetal akinesia 32686171;34740919;37921537 False 3 100;0;0 9.32 False ENSG00000139116 ENSG00000139116 HGNC:19349 KLHL40 gene KLHL40 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, 615348 23746549 False 3 100;0;0 9.32 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, 615731 (3) 24268659 False 3 100;0;0 9.32 False ENSG00000239474 ENSG00000239474 HGNC:16905 KLHL7 gene KLHL7 Expert list;Expert Review Green Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 3 617055 27392078 False 3 0;100;0 9.32 False ENSG00000122550 ENSG00000122550 HGNC:15646 LAMA2 gene LAMA2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, LAMA2-related;Muscular dystrophy, congenital merosin-deficient, 607855 False 3 100;0;0 9.32 False ENSG00000196569 ENSG00000196569 HGNC:6482 LARGE1 gene LARGE1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000133424 ENSG00000133424 HGNC:6511 LGI3 gene LGI3 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 35948005 False 3 100;0;0 9.32 False ENSG00000168481 ENSG00000168481 HGNC:18711 LGI4 gene LGI4 Expert Review Green;Literature;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 28318499;15857855;16341215;33820833 False 3 0;100;0 9.32 False ENSG00000153902 ENSG00000153902 HGNC:18712 LMOD3 gene LMOD3 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, OMIM:616165 25250574;33820833 False 3 100;0;0 9.32 False ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B Expert Review;Expert Review Green;Other Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nail-patella syndrome, 161200;Nail Patella syndrome;NPS 8403448;19194568;31369690;ISBN:9780199557509 False 3 0;0;0 9.32 False ENSG00000136944 ENSG00000136944 HGNC:6654 MAGEL2 gene MAGEL2 Expert Review Green;Literature;Other Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, OMIM:615547;Prader-Willi-Like syndrome 26365340;27195816;31504653;29359444;24076603;33820833 False 3 50;50;0 9.32 False ENSG00000254585 ENSG00000254585 HGNC:6814 MED12 gene MED12 Expert list;Expert Review Green Arthrogryposis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females MED12-related disorders;Opitz-Kaveggia syndrome, OMIM:305450;Ohdo syndrome, X-linked, OMIM:300895;Lujan-Fryns syndrome, OMIM:309520 20301719;565138;7201743;16700052;17369503;19938245;25790323 False 3 100;0;0 9.32 False ENSG00000184634 ENSG00000184634 HGNC:11957 MET gene MET Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Arthrogryposis, distal, type 11, OMIM:620019 30777867;38429387 False 3 100;0;0 9.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105976 ENSG00000105976 HGNC:7029 MTM1 gene MTM1 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis 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 10790201;20301605 False 3 100;0;0 9.32 False ENSG00000171100 ENSG00000171100 HGNC:7448 MUSK gene MUSK Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 208150;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325 15496425;19949040;20371544;25537362;25612909 False 3 100;0;0 9.32 False ENSG00000030304 ENSG00000030304 HGNC:7525 MYBPC1 gene MYBPC1 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915;Distal Arthrogryposis PMID: 20045868 (two variants identified in two families with Distal arthrogryposis type I);PMID: 26661508 (consanguineous Israeli-Druze family);PMID: 25679999 (two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity);PMID: 23873045 - MYBPC1 zebrafish models displaye a critical role in slow skeletal muscle development;PMID: 22610851 (two unrelated inbred Bedouin tribes with lethal congenital contractural syndrome). False 3 100;0;0 9.32 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYH3 gene MYH3 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD);Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD);Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD);Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR) 16642020;18695058;19684571;29314551;29805041;38856159 False 3 100;0;0 9.32 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH8 gene MYH8 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trismus-pseudocamptodactyly syndrome (ARTHROGRYPOSIS, DISTAL, TYPE 7;DA7) 158300 18049072;8923935 False 3 100;0;0 9.32 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYMK gene MYMK Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700 28681861 False 3 100;0;0 9.32 False ENSG00000187616 ENSG00000187616 HGNC:33778 NALCN gene NALCN Expert list;Expert Review Green;Literature Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266 25683120 False 3 100;0;0 9.32 False ENSG00000102452 ENSG00000102452 HGNC:19082 NEB gene NEB Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal nemaline myopathy;Nemaline Myopathy, Recessive;Nemaline myopathy 2, autosomal recessive, 256030 9359044 False 3 100;0;0 9.32 False ENSG00000183091 ENSG00000183091 HGNC:7720 NEK9 gene NEK9 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262;Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660;Lethal congenital contracture syndrome 10, OMIM:617022;NEK9-related lethal skeletal dysplasia, MONDO:0014870 26908619;21271645;26633546;32333414 False 3 33;33;33 9.32 False ENSG00000119638 ENSG00000119638 HGNC:18591 ORAI1 gene ORAI1 Expert;Expert Review Green;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 1 160565 False 3 0;100;0 9.32 False ENSG00000182500 ENSG00000276045 HGNC:25896 PEX1 gene PEX1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) 214100 9398847 False 3 100;0;0 9.32 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870 20301621 False 3 100;0;0 9.32 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B 614920 22581968 False 3 100;0;0 9.32 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) 614859 20301621 False 3 100;0;0 9.32 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 20301621 False 3 100;0;0 9.32 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 614883 20301621 False 3 100;0;0 9.32 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) 614876 20301621 False 3 100;0;0 9.32 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) 614886 20301621 False 3 0;0;0 9.32 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 614866 1546315 False 3 100;0;0 9.32 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) 614872 20301621 False 3 100;0;0 9.32 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 20301621 False 3 100;0;0 9.32 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110 20301621 False 3 100;0;0 9.32 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heimler syndrome 2, OMIM:616617;Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 20301621;29220678 False 3 100;0;0 9.32 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1 215100 20301447 False 3 100;0;0 9.32 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert list;Expert Review Green Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII 232800 26108272 False 3 0;0;0 9.32 False ENSG00000152556 ENSG00000152556 HGNC:8877 PIEZO2 gene PIEZO2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145 False 3 100;0;0 9.32 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIP5K1C gene PIP5K1C Expert list;Expert Review Green;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 3, OMIM:611369 17701898;38491417 False 3 50;50;0 9.32 False ENSG00000186111 ENSG00000186111 HGNC:8996 PLOD1 gene PLOD1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, type VI 225400 8449506 False 3 100;0;0 9.32 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2 609220 22689593 False 3 100;0;0 9.32 False ENSG00000152952 ENSG00000152952 HGNC:9082 POMGNT1 gene POMGNT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type;Walker-Warburg syndrome False 3 100;0;0 9.32 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal "?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249" False 3 100;0;0 9.32 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 12116245 False 3 100;0;0 9.32 False ENSG00000127948 ENSG00000127948 HGNC:9208 PRG4 gene PRG4 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 10545950 False 3 100;0;0 9.32 False ENSG00000116690 ENSG00000116690 HGNC:9364 RAPSN gene RAPSN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 19261599;20301347 False 3 100;0;0 9.32 False ENSG00000165917 ENSG00000165917 HGNC:9863 RIPK4 gene RIPK4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type 263650 22197488 False 3 100;0;0 9.32 False ENSG00000183421 ENSG00000183421 HGNC:496 RYR1 gene RYR1 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Malignant hyperthermia susceptibility 1}, 145600;congenital muscular dystrophies;Minicore myopathy with external ophthalmoplegia 255320 False 3 100;0;0 9.32 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCARF2 gene SCARF2 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome 600920 20887961 False 3 100;0;0 9.32 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCN1A gene SCN1A Expert Review Green;Literature Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis multiplex congenita;Dravet syndrome, OMIM:607208 32928894;29543227 False 3 50;50;0 9.32 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN4A gene SCN4A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620 12766226;20301347;26700687 False 3 0;0;100 9.32 False ENSG00000007314 ENSG00000007314 HGNC:10591 SELENON gene SELENON Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 3 with rigid spine, OMIM:602771 20301467;30642275;32796131 False 3 100;0;0 9.32 False ENSG00000162430 ENSG00000162430 HGNC:15999 SKI gene SKI Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shprintzen-Goldberg syndrome 182212 15884042;23023332 False 3 100;0;0 9.32 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC18A3 gene SLC18A3 Expert Review Green;Literature;NHS GMS;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239;arthrogryposis, MONDO:0008779 28188302;27590285;31059209;34943989 False 3 100;0;0 9.32 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC29A3 gene SLC29A3 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 19889517;30723056;31464584;32776596;33837634;33947670 False 3 100;0;0 9.32 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC35A3 gene SLC35A3 Expert Review Green;Literature;NHS GMS Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089;28328131;28777481;33416188 False 3 75;0;25 9.32 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC5A7 gene SLC5A7 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic 617143 27569547 False 3 100;0;0 9.32 False ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A9 gene SLC6A9 Expert Review Green;Literature;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy with normal serum glycine, OMIM:617301 27481395;27773429;31875334;32712301;33269555 False 3 50;50;0 9.32 False ENSG00000196517 ENSG00000196517 HGNC:11056 SMAD3 gene SMAD3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3 613795 21217753 False 3 100;0;0 9.32 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome 139210 22158539 False 3 0;100;0 9.32 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMN1 gene SMN1 Expert Review Green;Literature Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis;Spinal muscular atrophy-1, 253300;Spinal muscular atrophy-2, 253550;Spinal muscular atrophy-3, 253400;Spinal muscular atrophy-4, 271150 27911332;10700538;11826188;8787675;32644125;32644120 False 3 50;50;0 9.32 False ENSG00000172062 ENSG00000172062 HGNC:11117 SMPD4 gene SMPD4 Expert Review Green;Research Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis 31495489 False 3 0;100;0 9.32 False ENSG00000136699 ENSG00000136699 HGNC:32949 STAC3 gene STAC3 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, 255995 23736855;33820833 False 3 0;0;100 9.32 False ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Myopathy, tubular aggregate, 160565;Stormorken syndrome 185070" 23332920 False 3 0;100;0 9.32 False Other - please provide details in the comments ENSG00000167323 ENSG00000167323 HGNC:11386 SYNE1 gene SYNE1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484;Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 19542096;24319099;27782104 False 3 67;33;0 9.32 False ENSG00000131018 ENSG00000131018 HGNC:17089 TGFB2 gene TGFB2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4 614816 22772368 False 3 100;0;0 9.32 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;Literature Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 5 615582 24798638 False 3 100;0;0 9.32 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 1 609192 15731757 False 3 100;0;0 9.32 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 2 610168 15731757 False 3 100;0;0 9.32 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMEM5 gene TMEM5 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type False 3 100;0;0 9.32 False ENSG00000118600 ENSG00000118600 HGNC:13530 TNNI2 gene TNNI2 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis multiplex congenita, distal, type 2B, 601680;Arthrogryposis Multiplex Congenita;Distal Arthrogryposis Multiplex Congenita;Arthrogryposis, Distal, Type 2B PMID: 16802141;17380469;23850728 False 3 100;0;0 9.32 False ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal nemaline myopathy;Nemaline Myopathy, Recessive;Nemaline myopathy 5, Amish type, 605355 26296490;10952871;27429059 False 3 0;0;100 9.32 False ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis, distal, type 2B2, OMIM:618435;Arthrogryposis, distal, type 2B2, MONDO:0032750 PMID: 12865991;10525521;25337069;23401156;21402185;19142688 False 3 100;0;0 9.32 False ENSG00000130595 ENSG00000130595 HGNC:11950 TOR1A gene TOR1A Expert list;Expert Review Green;NHS GMS Arthrogryposis Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arthrogryposis multiplex congenita 5, OMIM:618947;Arthrogryposis multiplex congenita 5, MONDO:0100218;Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 30244176;29053766;28516161 False 3 100;0;0 9.32 False ENSG00000136827 ENSG00000136827 HGNC:3098 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature;Other Arthrogryposis 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 24856141;27342937;30723199;31299614;32055997 False 3 100;0;0 9.32 False ENSG00000143337 ENSG00000143337 HGNC:29456 TPM2 gene TPM2 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arthrogryposis multiplex congenita, distal, type 1, 108120;Arthrogryposis, distal, type 2B, 601680;Nemaline myopathy 4, autosomal dominant, 609285;CAP myopathy 2, 609285;Arthrogryposis Multiplex Congenita;Arthrogryposis, Distal, Type 1A;DA1A;Arthrogryposis, Distal, Type 2B;DA2B;distal arthrogryposis;Escobar syndrome;congenital myopathy;nemaline myopathy;Nemaline Myopathy, Dominant PMID: 19155175;22749895;17846275;23413262 False 3 100;0;0 9.32 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal nemaline myopathy;Nemaline Myopathy;Nemaline myopathy 1, autosomal dominant or recessive, 609284;Myopathy, congenital, with fiber-type disproportion 255310 18300303 False 3 100;0;0 9.32 False ENSG00000143549 ENSG00000143549 HGNC:12012 TRPV4 gene TRPV4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Arthrogryposis Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, distal, congenital nonprogressive 600175;Metatropic dysplasia 156530 20037588;24830047 False 3 100;0;0 9.32 False ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN54 gene TSEN54 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 4, OMIM:225753 20956791;20952379 False 3 0;0;100 9.32 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTN gene TTN Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Congenital titinopathy with arthrogryposis;Hereditary Myopathy with Early Respiratory Failure;Cardiomyopathy, familial hypertrophic, 9, 613765;Hereditary Myopathy with Early Respiratory Failure (dominant);Udd Distal Myopathy (Dominant);Salih Myopathy (recessive);core myopathy with heart disease 24105469;28040389;31660661;29575618 False 3 50;0;50 9.32 False ENSG00000155657 ENSG00000155657 HGNC:12403 UBA1 gene UBA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile 301830 18179898;20301739 False 3 100;0;0 9.32 False ENSG00000130985 ENSG00000130985 HGNC:12469 VAMP1 gene VAMP1 Expert Review Green;Other Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal presynaptic CMS;Congenital myasthenic syndrome 28168212;28253535 False 3 0;100;0 9.32 False ENSG00000139190 ENSG00000139190 HGNC:12642 VIPAS39 gene VIPAS39 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome PMID: 20190753 False 3 100;0;0 9.32 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, Renal Dysfunction, And Cholestasis 1;arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome PMID: 15052268;16896922 False 3 100;0;0 9.32 False ENSG00000184056 ENSG00000184056 HGNC:12712 ZC4H2 gene ZC4H2 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Arthrogryposis 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 False 3 100;0;0 9.32 False ENSG00000126970 ENSG00000126970 HGNC:24931 ZMPSTE24 gene ZMPSTE24 Expert list;Expert Review Green Arthrogryposis Neurology BIALLELIC, autosomal or pseudoautosomal Restrictive dermopathy, lethal 275210 15843403 False 3 100;0;0 9.32 False ENSG00000084073 ENSG00000084073 HGNC:12877