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;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTC1 gene ACTC1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MONDO:0019942 ACTC1 related distal arthrogrypsis Flexion contracture;HP:0001371 PMID: 36945405 False 3 100;0;0 0.416 True ENSG00000159251 ENSG00000159251 HGNC:143 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Weill-Marchesani syndrome 1, recessive, MIM#277600 Flexion contracture;HP:0001371 18567016 False 3 100;0;0 0.416 True ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS15 gene ADAMTS15 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 12, MIM# 620545 Flexion contracture;HP:0001371 PMID: 35962790 False 3 100;0;0 0.416 True ENSG00000166106 ENSG00000166106 HGNC:16305 ADCY6 gene ADCY6 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 8, OMIM # 616287;MONDO:0014570 Flexion contracture;HP:0001371 PMID: 24319099, 26257172, 31846058;33820833 False 3 100;0;0 0.416 True ENSG00000174233 ENSG00000174233 HGNC:237 ADGRG6 gene ADGRG6 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 9;OMIM #616503;MONDO:0014670 Flexion contracture;HP:0001371 30549416;26004201 False 3 100;0;0 0.416 True ENSG00000112414 ENSG00000112414 HGNC:13841 ALG3 gene ALG3 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 Flexion contracture;HP:0001371 16006436;26453362;28742265 False 3 100;0;0 0.416 True ENSG00000214160 ENSG00000214160 HGNC:23056 ANTXR2 gene ANTXR2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome, MIM# 228600;MONDO:0009229 Flexion contracture;HP:0001371 12973667;14508707 False 3 100;0;0 0.416 True ENSG00000163297 ENSG00000163297 HGNC:21732 ASCC1 gene ASCC1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 2 MIM#616867 Flexion contracture;HP:0001371 PMID: 28218388;30327447;26924529 False 3 100;0;0 0.416 True ENSG00000138303 ENSG00000138303 HGNC:24268 ASXL1 gene ASXL1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000171456 ENSG00000171456 HGNC:18318 ATP1A2 gene ATP1A2 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602;hydrops;arthrogryposis;microcephaly;malformations of cortical development;dysmorphic features;severe respiratory insufficiency Flexion contracture;HP:0001371 30690204 False 3 100;0;0 0.416 True ENSG00000018625 ENSG00000018625 HGNC:800 BICD2 gene BICD2 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291" Flexion contracture;HP:0001371 PMID: 28635954;27751653 False 3 100;0;0 0.416 True ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2;OMIM #255200 Flexion contracture;HP:0001371 False 3 100;0;0 0.416 True ENSG00000136717 ENSG00000136717 HGNC:1052 CACNA1E gene CACNA1E Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Epileptic encephalopathy, early infantile, 69 618285" Flexion contracture;HP:0001371 PMID: 30343943 False 3 0;0;0 0.416 True Other ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1S gene CACNA1S Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246 Flexion contracture;HP:0001371 PMID: 33060286, 31227654, 28012042 False 3 100;0;0 0.416 True ENSG00000081248 ENSG00000081248 HGNC:1397 CHAT gene CHAT Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic, 254210 Flexion contracture;HP:0001371 11172068;12756141;31192527;29518833;29189923 False 3 100;0;0 0.416 True ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis 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 Flexion contracture;HP:0001371 8872460;8651643;27375219;32504635;10562302 False 3 100;0;0 0.416 True ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Escobar syndrome, MIM# 265000;Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009926;MONDO:0009668 Flexion contracture;HP:0001371 16826520;16826531;22167768 False 3 100;0;0 0.416 True ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776) Flexion contracture;HP:0001371 26373698 False 3 100;0;0 0.416 True ENSG00000169105 ENSG00000169105 HGNC:24464 CNTNAP1 gene CNTNAP1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating neuropathy, congenital, 3, MIM#618186;Lethal congenital contracture syndrome 7, MIM# 616286 Flexion contracture;HP:0001371 28374019;29511323;27668699 False 3 100;0;0 0.416 True ENSG00000108797 ENSG00000108797 HGNC:8011 COASY gene COASY Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia;microcephaly;arthrogryposis Flexion contracture;HP:0001371 30089828;35499143 False 3 50;50;0 0.416 True ENSG00000068120 ENSG00000068120 HGNC:29932 COL12A1 gene COL12A1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL25A1 gene COL25A1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita MONDO:0015168 Flexion contracture;HP:0001371 35077597;26437029 False 3 100;0;0 0.416 True ENSG00000188517 ENSG00000188517 HGNC:18603 COL6A1 gene COL6A1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000163359 ENSG00000163359 HGNC:2213 COLQ gene COLQ Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000206561 ENSG00000206561 HGNC:2226 CRLF1 gene CRLF1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, MIM#272430 Flexion contracture;HP:0001371 12509788;17436251;17436252 False 3 100;0;0 0.416 True ENSG00000006016 ENSG00000006016 HGNC:2364 CSMD1 gene CSMD1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Flexion contracture;HP:0001371 PMID 38816421 False 3 100;0;0 0.416 True ENSG00000183117 ENSG00000183117 HGNC:14026 DHCR24 gene DHCR24 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MIM# 602398 Flexion contracture;HP:0001371 21671375;12457401;29175559;21559050 False 3 100;0;0 0.416 True ENSG00000116133 ENSG00000116133 HGNC:2859 DNM2 gene DNM2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij;Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 Flexion contracture;HP:0001371 26033833;22786653;30653653;22492991 False 3 100;0;0 0.416 True ENSG00000172269 ENSG00000172269 HGNC:2995 DYNC1H1 gene DYNC1H1 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228;Mental retardation, autosomal dominant 13, MIM# 614563;Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600" Flexion contracture;HP:0001371 25609763;25512093;28554554 False 3 100;0;0 0.416 True ENSG00000197102 ENSG00000197102 HGNC:2961 EBP gene EBP Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Other Chondrodysplasia punctata, X-linked dominant, MIM# 302960 Flexion contracture;HP:0001371 21634086;24704792 False 3 100;0;0 0.416 True ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, MIM# 615065 Flexion contracture;HP:0001371 23261301;23236030;25099528;24782201 False 3 100;0;0 0.416 True ENSG00000171551 ENSG00000171551 HGNC:3147 ERCC5 gene ERCC5 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570 Flexion contracture;HP:0001371 24700531 False 3 100;0;0 0.416 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000049167 ENSG00000049167 HGNC:3439 ERGIC1 gene ERGIC1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis multiplex congenita 2, neurogenic type;OMIM # 208100" Flexion contracture;HP:0001371 28317099;34037256;31230720 False 3 50;50;0 0.416 True ENSG00000113719 ENSG00000113719 HGNC:29205 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000107371 ENSG00000107371 HGNC:17944 FBN2 gene FBN2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital, MIM# 121050 Flexion contracture;HP:0001371 33571691 False 3 100;0;0 0.416 True ENSG00000138829 ENSG00000138829 HGNC:3604 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000068078 ENSG00000068078 HGNC:3690 FILIP1 gene FILIP1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Flexion contracture;HP:0001371 36943452 False 3 100;0;0 0.416 True ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP10 gene FKBP10 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000141756 ENSG00000141756 HGNC:18169 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FLNA-related disorders;Otopalatodigital syndrome, type I 311300;Otopalatodigital syndrome, type II 304120;Terminal osseous dysplasia 300244 Flexion contracture;HP:0001371 26804200;30561107;20301567 False 3 100;0;0 0.416 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000136068 ENSG00000136068 HGNC:3755 FLNC gene FLNC Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, familial restrictive 5 617047;Myopathy, distal, 4 614065;Myopathy, myofibrillar, 5 609524" Flexion contracture;HP:0001371 PMID: 29858533 False 3 100;0;0 0.416 True Other ENSG00000128591 ENSG00000128591 HGNC:3756 FLVCR2 gene FLVCR2 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, OMIM #225790 Flexion contracture;HP:0001371 PMID: 20206334, 20014121, 20014121 False 3 100;0;0 0.416 True ENSG00000119686 ENSG00000119686 HGNC:20105 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000114480 ENSG00000114480 HGNC:4180 GLDN gene GLDN Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 11, MIM# 617194;MONDO:0014965 Flexion contracture;HP:0001371 27616481;32812332;28726266 False 3 100;0;0 0.416 True ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 1, MIM# 253310 Flexion contracture;HP:0001371 18204449;22357925 False 3 100;0;0 0.416 True ENSG00000119392 ENSG00000119392 HGNC:4315 GMPPB gene GMPPB Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000173540 ENSG00000173540 HGNC:22932 HSPG2 gene HSPG2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, MIM# 255800;MONDO:0009717 Flexion contracture;HP:0001371 11101850;16927315 False 3 100;0;0 0.416 True ENSG00000142798 ENSG00000142798 HGNC:5273 IRF6 gene IRF6 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000117595 ENSG00000117595 HGNC:6121 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000214960 ENSG00000214960 HGNC:37276 KAT6B gene KAT6B Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000156650 ENSG00000156650 HGNC:17582 KCNK3 gene KCNK3 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNK3-related;developmental delay with sleep apnoea (DDSA) Flexion contracture;HP:0001371 36195757 False 3 100;0;0 0.416 True ENSG00000171303 ENSG00000171303 HGNC:6278 KIAA1109 gene KIAA1109 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, MIM# 617822 Flexion contracture;HP:0001371 29290337;30906834 False 3 100;0;0 0.416 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly and arthrogryposis, MIM# 619501;cerebral ventriculomegaly;limb contractures Flexion contracture;HP:0001371 33205811;28934391;28934391;32909676 False 3 100;0;0 0.416 True ENSG00000134313 ENSG00000134313 HGNC:29508 KIF5C gene KIF5C Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282 Flexion contracture;HP:0001371 False 3 100;0;0 0.416 True ENSG00000168280 ENSG00000168280 HGNC:6325 KLHL40 gene KLHL40 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, MIM# 615348 Flexion contracture;HP:0001371 23746549;24960163;32352246;31908664;27528495 False 3 100;0;0 0.416 True ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, MIM# 615731 Flexion contracture;HP:0001371 24268659;30986853;28939701;28826497 False 3 100;0;0 0.416 True ENSG00000239474 ENSG00000239474 HGNC:16905 KLHL7 gene KLHL7 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000122550 ENSG00000122550 HGNC:15646 KY gene KY Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 7, OMIM #617114 Flexion contracture;HP:0001371 PMID: 27484770, 27485408, 30591934, 35752288 False 3 100;0;0 0.416 True ENSG00000174611 ENSG00000174611 HGNC:26576 LAMA2 gene LAMA2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855;Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Flexion contracture;HP:0001371 30055037 False 3 100;0;0 0.416 True ENSG00000196569 ENSG00000196569 HGNC:6482 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000133424 ENSG00000133424 HGNC:6511 LGI4 gene LGI4 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000153902 ENSG00000153902 HGNC:18712 LIFR gene LIFR Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559 Flexion contracture;HP:0001371 PMID: 9674905, 9674906, 14740318, 24988918, 35663789 False 3 100;0;0 0.416 True ENSG00000113594 ENSG00000113594 HGNC:6597 LMNA gene LMNA Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, congenital, OMIM #613205 Flexion contracture;HP:0001371 PMID:18551513 False 3 100;0;0 0.416 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD3 gene LMOD3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, MIM# 616165 Flexion contracture;HP:0001371 29331079;25250574;30291184;28815944;30642739 False 3 100;0;0 0.416 True ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Nail-patella syndrome, MIM# 161200, MONDO:0008061" Flexion contracture;HP:0001371 False 3 100;0;0 0.416 True ENSG00000136944 ENSG00000136944 HGNC:6654 MAGEL2 gene MAGEL2 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome Flexion contracture;HP:0001371 24076603;27195816;26365340;33820833;34128869 False 3 100;0;0 0.416 True ENSG00000254585 ENSG00000254585 HGNC:6814 MED11 gene MED11 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Flexion contracture;HP:0001371 36001086 False 3 100;0;0 0.416 True ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MED12-related disorders Flexion contracture;HP:0001371 20301719 False 3 100;0;0 0.416 True ENSG00000184634 ENSG00000184634 HGNC:11957 MTM1 gene MTM1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000171100 ENSG00000171100 HGNC:7448 MUSK gene MUSK Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000030304 ENSG00000030304 HGNC:7525 MYBPC1 gene MYBPC1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 1B 614335;Lethal congenital contracture syndrome 4, MIM# 614915 Flexion contracture;HP:0001371 20045868;22610851;23873045;26661508;31264822 False 3 100;0;0 0.416 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYH2 gene MYH2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia, MIM# 605637 Flexion contracture;HP:0001371 20418530;15548556;24193343;11114175;23489661;32578970;29934118;28729039;27490141;27177998;17434305 False 3 100;0;0 0.416 True ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH8 gene MYH8 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYMK gene MYMK Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Carey-Fineman-Ziter syndrome 254940" Flexion contracture;HP:0001371 28681861 False 3 100;0;0 0.416 True ENSG00000187616 ENSG00000187616 HGNC:33778 NALCN gene NALCN Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266 Flexion contracture;HP:0001371 25683120 False 3 100;0;0 0.416 True ENSG00000102452 ENSG00000102452 HGNC:19082 NEB gene NEB Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 6, MIM# 619334 Flexion contracture;HP:0001371 10051637;22367672;26578207;33376055 False 3 100;0;0 0.416 True ENSG00000183091 ENSG00000183091 HGNC:7720 NUP88 gene NUP88 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Fetal akinesia deformation sequence 4, MIM# 618393" Flexion contracture;HP:0001371 30543681 False 3 100;0;0 0.416 True ENSG00000108559 ENSG00000108559 HGNC:8067 ORAI1 gene ORAI1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000182500 ENSG00000276045 HGNC:25896 PEX1 gene PEX1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000152556 ENSG00000152556 HGNC:8877 PIEZO2 gene PIEZO2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 3 (MIM#114300);Arthrogryposis, distal, type 5 (MIM#108145);Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146 Flexion contracture;HP:0001371 30941898;27653382;27607563;27843126;27974811;24726473 False 3 100;0;0 0.416 True ENSG00000154864 ENSG00000154864 HGNC:26270 PIP5K1C gene PIP5K1C Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 3, MIM# 611369 Flexion contracture;HP:0001371 17701898;38491417 False 3 50;50;0 0.416 True ENSG00000186111 ENSG00000186111 HGNC:8996 PLOD1 gene PLOD1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000152952 ENSG00000152952 HGNC:9082 PMM2 gene PMM2 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, OMIM #212065 Flexion contracture;HP:0001371 False 3 100;0;0 0.416 True ENSG00000140650 ENSG00000140650 HGNC:9115 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Flexion contracture;HP:0001371 False 3 100;0;0 0.416 True ENSG00000127948 ENSG00000127948 HGNC:9208 PPP3CA gene PPP3CA Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265 Flexion contracture;HP:0001371 PMID: 29432562 False 3 100;0;0 0.416 True ENSG00000138814 ENSG00000138814 HGNC:9314 PRG4 gene PRG4 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, MIM# 208250 Flexion contracture;HP:0001371 10545950;29397575 False 3 100;0;0 0.416 True ENSG00000116690 ENSG00000116690 HGNC:9364 PSMF1 gene PSMF1 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Flexion contracture;HP:0001371 https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1 False 3 100;0;0 0.416 True ENSG00000125818 ENSG00000125818 HGNC:9571 RAPSN gene RAPSN Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 2 MIM# 618388;AChR deficiency;fetal akinesia;IUGR;micrognathia;hypokinesia;contractures;muscular hypotonia;feeding difficulties;severe respiratory insufficiency;history of miscarriage Flexion contracture;HP:0001371 18179903;18252226;28495245;22482962 False 3 100;0;0 0.416 True ENSG00000165917 ENSG00000165917 HGNC:9863 RIPK4 gene RIPK4 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650 Flexion contracture;HP:0001371 28940926;22197489;22197488 False 3 100;0;0 0.416 True ENSG00000183421 ENSG00000183421 HGNC:496 RYR1 gene RYR1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCARF2 gene SCARF2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome, MIM# 600920 Flexion contracture;HP:0001371 20887961;23808541;24478002;27375131;24478002 False 3 100;0;0 0.416 True ENSG00000244486 ENSG00000244486 HGNC:19869 SCN1A gene SCN1A Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis multiplex congenita;Dravet syndrome, MIM# 607208 Flexion contracture;HP:0001371 32928894;29543227 False 3 100;0;0 0.416 True ENSG00000144285 ENSG00000144285 HGNC:10585 SELENON gene SELENON Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000162430 ENSG00000162430 HGNC:15999 SENP7 gene SENP7 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Flexion contracture;HP:0001371 37460201;39763084;38972567 False 3 50;50;0 0.416 True ENSG00000138468 ENSG00000138468 HGNC:30402 SKI gene SKI Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC29A3 gene SLC29A3 Expert Review;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782" Flexion contracture;HP:0001371 18940313;19336477;22238637 False 3 100;0;0 0.416 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC35A3 gene SLC35A3 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM #615553 Flexion contracture;HP:0001371 PMID: 28777481, 24031089, 28328131, 33416188 False 3 100;0;0 0.416 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC5A7 gene SLC5A7 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 Flexion contracture;HP:0001371 27569547;29189923;30172469 False 3 100;0;0 0.416 True ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A9 gene SLC6A9 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy with normal serum glycine, MIM#617301;arthrogryposis Flexion contracture;HP:0001371 27773429;27481395;31875334;32712301;33269555 False 3 100;0;0 0.416 True ENSG00000196517 ENSG00000196517 HGNC:11056 SMAD3 gene SMAD3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMN1 gene SMN1 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, type 0 Flexion contracture;HP:0001371 False 3 100;0;0 0.416 True ENSG00000172062 ENSG00000172062 HGNC:11117 SMPD4 gene SMPD4 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly;congenital arthrogryposis, intellectual disability Flexion contracture;HP:0001371 31495489 False 3 100;0;0 0.416 True ENSG00000136699 ENSG00000136699 HGNC:32949 STAC3 gene STAC3 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Myopathy, congenital, Baily-Bloch, MIM# 255995" Flexion contracture;HP:0001371 23736855;30168660;28777491 False 3 100;0;0 0.416 True ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, tubular aggregate, 1 160565;Stormorken syndrome 185070 Flexion contracture;HP:0001371 23332920;31448844 False 3 100;0;0 0.416 True ENSG00000167323 ENSG00000167323 HGNC:11386 SYNE1 gene SYNE1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Distal arthrogryposis Flexion contracture;HP:0001371 27782104 False 3 100;0;0 0.416 True ENSG00000131018 ENSG00000131018 HGNC:17089 TBCD gene TBCD Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM Flexion contracture;HP:0001371 27666370;27666374 False 3 100;0;0 0.416 True ENSG00000141556 ENSG00000141556 HGNC:11581 TGFB2 gene TGFB2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000163513 ENSG00000163513 HGNC:11773 TNNI2 gene TNNI2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 2B1, MIM# 601680 Flexion contracture;HP:0001371 17194691;25340332;12592607 False 3 100;0;0 0.416 True Other ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 5, Amish type, MIM# 605355 Flexion contracture;HP:0001371 10952871;32994279;32819427;31970803;31604653;29931346;31680123 False 3 100;0;0 0.416 True ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 2B2, MIM# 618435 Flexion contracture;HP:0001371 12865991;19142688;21402185;25337069;17194691 False 3 100;0;0 0.416 True Other ENSG00000130595 ENSG00000130595 HGNC:11950 TOR1A gene TOR1A Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MIM#618947 Flexion contracture;HP:0001371 PMID: 30244176 False 3 100;0;0 0.416 True ENSG00000136827 ENSG00000136827 HGNC:3098 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072;Progeroid appearance;Cataracts;Microcephaly;Deafness;Contractures Flexion contracture;HP:0001371 24856141;31299614;30723199;27342937;32055997 False 3 100;0;0 0.416 True ENSG00000143337 ENSG00000143337 HGNC:29456 TPM2 gene TPM2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 1A/2B4 (MIM#108120) Flexion contracture;HP:0001371 30285720;27726070;24692096 False 3 100;0;0 0.416 True ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000143549 ENSG00000143549 HGNC:12012 TRIP4 gene TRIP4 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Flexion contracture;HP:0001371 26924529 False 3 100;0;0 0.416 True ENSG00000103671 ENSG00000103671 HGNC:12310 TRPV4 gene TRPV4 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000111199 ENSG00000111199 HGNC:18083 TSEN54 gene TSEN54 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Flexion contracture;HP:0001371 False 3 0;0;0 0.416 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTN gene TTN Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Salih myopathy;Muscular dystrophy, limb-girdle, autosomal recessive 10 Flexion contracture;HP:0001371 24105469;31660661;29575618;28040389 False 3 100;0;0 0.416 True ENSG00000155657 ENSG00000155657 HGNC:12403 UBA1 gene UBA1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Flexion contracture;HP:0001371 18179898;32181232;31932168;29034082;27699224;26028276;23518311 False 3 100;0;0 0.416 True ENSG00000130985 ENSG00000130985 HGNC:12469 VAMP1 gene VAMP1 Expert list;Expert Review Green Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 25, MIM# 618323" Flexion contracture;HP:0001371 28253535 False 3 100;0;0 0.416 True ENSG00000139190 ENSG00000139190 HGNC:12642 VIPAS39 gene VIPAS39 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Flexion contracture;HP:0001371 20190753;35151346 False 3 100;0;0 0.416 True ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Flexion contracture;HP:0001371 31240160;31777725;24415890;15052268 False 3 100;0;0 0.416 True ENSG00000184056 ENSG00000184056 HGNC:12712 ZC4H2 gene ZC4H2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wieacker-Wolff syndrome (MIM#314580) Flexion contracture;HP:0001371 23623388;34322088;33949289;31885220;31206972 False 3 100;0;0 0.416 True ENSG00000126970 ENSG00000126970 HGNC:24931 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612;MONDO:0012074;Restrictive dermopathy, lethal, MIM# 275210;MONDO:0010143 Flexion contracture;HP:0001371 11923874;22718200;29794150;29208544;12913070;27410998;27409638;15937076;16671095;22718200;29794150;24169522 False 3 100;0;0 0.416 True ENSG00000084073 ENSG00000084073 HGNC:12877 ARX gene ARX Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004 Flexion contracture;HP:0001371 21416597 False 2 0;100;0 0.416 True ENSG00000004848 ENSG00000004848 HGNC:18060 ATAD1 gene ATAD1 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hyperekplexia 4, MIM# 618011" Flexion contracture;HP:0001371 29659736;29390050;28180185 False 2 0;100;0 0.416 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATRX gene ATRX Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Alpha-thalassemia/mental retardation syndrome, MIM# 301040 Flexion contracture;HP:0001371 20301622 False 2 0;100;0 0.416 True ENSG00000085224 ENSG00000085224 HGNC:886 B3GALT6 gene B3GALT6 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, OMIM #609465 Flexion contracture;HP:0001371 PMID: 29443383, 25149931 False 2 0;100;0 0.416 True ENSG00000176022 ENSG00000176022 HGNC:17978 CNTN1 gene CNTN1 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 12, OMIM #612540 Flexion contracture;HP:0001371 PMID:19026398 False 2 0;50;50 0.416 True ENSG00000018236 ENSG00000018236 HGNC:2171 DPM2 gene DPM2 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 Flexion contracture;HP:0001371 23109149 False 2 0;100;0 0.416 True ENSG00000136908 ENSG00000136908 HGNC:3006 ERBB3 gene ERBB3 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2, MIM# 607598 Flexion contracture;HP:0001371 17701904;31752936 False 2 0;100;0 0.416 True ENSG00000065361 ENSG00000065361 HGNC:3431 FAM20C gene FAM20C Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775 Flexion contracture;HP:0001371 False 2 0;100;0 0.416 True ENSG00000177706 ENSG00000177706 HGNC:22140 HS2ST1 gene HS2ST1 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194;Intellectual disability;dysmorphic features;congenital anomalies;arthrogryposis Flexion contracture;HP:0001371 33159882 False 2 0;100;0 0.416 True ENSG00000153936 ENSG00000153936 HGNC:5193 ISLR2 gene ISLR2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hydrocephalus;arthrogryposis;abdominal distension Flexion contracture;HP:0001371 30483960 False 2 0;0;0 0.416 True ENSG00000167178 ENSG00000167178 HGNC:29286 KIF21A gene KIF21A Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Severe fetal akinesia with arthrogryposis multiplex Flexion contracture;HP:0001371 PMID: 34740919 False 2 0;100;0 0.416 False ENSG00000139116 ENSG00000139116 HGNC:19349 MET gene MET Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Arthrogryposis, distal, type 11 (MIM#620019), AD Flexion contracture;HP:0001371 30777867 False 2 50;50;0 0.416 True ENSG00000105976 ENSG00000105976 HGNC:7029 MYLPF gene MYLPF Expert Review;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal arthrogryposis type 1C (DA1C), MIM#619110 Flexion contracture;HP:0001371 32707087 False 2 50;50;0 0.416 True ENSG00000180209 ENSG00000180209 HGNC:29824 MYO9A gene MYO9A Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 Flexion contracture;HP:0001371 26752647;27259756 False 2 50;50;0 0.416 True ENSG00000066933 ENSG00000066933 HGNC:7608 NEK9 gene NEK9 Expert Review;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 10, MIM# 617022;Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262 Flexion contracture;HP:0001371 26908619;21271645 False 2 0;100;0 0.416 True ENSG00000119638 ENSG00000119638 HGNC:18591 SCYL2 gene SCYL2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita (AMC);Zain syndrome Flexion contracture;HP:0001371 31960134;26203146 False 2 0;100;0 0.416 True ENSG00000136021 ENSG00000136021 HGNC:19286 SLC18A3 gene SLC18A3 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 21, presynaptic, 617239;arthrogryposis Flexion contracture;HP:0001371 28188302;27590285;31059209 False 2 0;100;0 0.416 True ENSG00000187714 ENSG00000187714 HGNC:10936 SLC9A6 gene SLC9A6 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 Flexion contracture;HP:0001371 False 2 0;100;0 0.416 True ENSG00000198689 ENSG00000198689 HGNC:11079 THOC2 gene THOC2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Arthrogryposis (MONDO:0008779), THOC2-related Flexion contracture;HP:0001371 PMID: 34976470;37945483 False 2 0;100;0 0.416 True ENSG00000125676 ENSG00000125676 HGNC:19073 TNNI1 gene TNNI1 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis MONDO:0008779, TNNI1-related Flexion contracture;HP:0001371 34934811 False 2 0;100;0 0.416 True ENSG00000159173 ENSG00000159173 HGNC:11945 UNC50 gene UNC50 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita Flexion contracture;HP:0001371 29016857;33820833 False 2 0;100;0 0.416 True ENSG00000115446 ENSG00000115446 HGNC:16046 VRK1 gene VRK1 Expert list;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia type 1A, OMIM# 607596" Flexion contracture;HP:0001371 PMID: 21937992, 21937992 False 2 0;100;0 0.416 True ENSG00000100749 ENSG00000100749 HGNC:12718 ZBTB42 gene ZBTB42 Expert Review;Expert Review Amber Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 6, MIM# 616248 Flexion contracture;HP:0001371 25055871 False 2 0;100;0 0.416 True ENSG00000179627 ENSG00000179627 HGNC:32550