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 Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000143632 ENSG00000143632 HGNC:129 ADAMTS10 gene ADAMTS10 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000142303 ENSG00000142303 HGNC:13201 ANTXR2 gene ANTXR2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000163297 ENSG00000163297 HGNC:21732 AP1S2 gene AP1S2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000182287 ENSG00000182287 HGNC:560 ARX gene ARX Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASXL1 gene ASXL1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000171456 ENSG00000171456 HGNC:18318 ATRX gene ATRX Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000085224 ENSG00000085224 HGNC:886 B3GALNT2 gene B3GALNT2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review;Expert Review Green Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 0.7 False ENSG00000174684 ENSG00000174684 HGNC:15685 CASK gene CASK Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000147044 ENSG00000147044 HGNC:1497 CHAT gene CHAT Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000169105 ENSG00000169105 HGNC:24464 CNTNAP1 gene CNTNAP1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders 24319909 False 3 0;0;0 0.7 False ENSG00000108797 ENSG00000108797 HGNC:8011 COL12A1 gene COL12A1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL6A1 gene COL6A1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000163359 ENSG00000163359 HGNC:2213 COLQ gene COLQ Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000206561 ENSG00000206561 HGNC:2226 CRLF1 gene CRLF1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000006016 ENSG00000006016 HGNC:2364 DAG1 gene DAG1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000173402 ENSG00000173402 HGNC:2666 DCX gene DCX Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000077279 ENSG00000077279 HGNC:2714 DNM2 gene DNM2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000175920 ENSG00000175920 HGNC:26594 DPM2 gene DPM2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000136908 ENSG00000136908 HGNC:3006 EBP gene EBP Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000171551 ENSG00000171551 HGNC:3147 EIF2S3 gene EIF2S3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000130741 ENSG00000130741 HGNC:3267 ERBB3 gene ERBB3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000049167 ENSG00000049167 HGNC:3439 EXOSC3 gene EXOSC3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000107371 ENSG00000107371 HGNC:17944 FAM20C gene FAM20C Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000177706 ENSG00000177706 HGNC:22140 FBN2 gene FBN2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000138829 ENSG00000138829 HGNC:3604 FGD1 gene FGD1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000066468 ENSG00000066468 HGNC:3689 FHL1 gene FHL1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000022267 ENSG00000022267 HGNC:3702 FLNA gene FLNA Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000196924 ENSG00000196924 HGNC:3754 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000147257 ENSG00000147257 HGNC:4451 L1CAM gene L1CAM Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000198910 ENSG00000198910 HGNC:6470 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000184634 ENSG00000184634 HGNC:11957 MTM1 gene MTM1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000171100 ENSG00000171100 HGNC:7448 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000046651 ENSG00000046651 HGNC:2567 RBM10 gene RBM10 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000182872 ENSG00000182872 HGNC:9896 SLC9A6 gene SLC9A6 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000198689 ENSG00000198689 HGNC:11079 TBX22 gene TBX22 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000122145 ENSG00000122145 HGNC:11600 UBA1 gene UBA1 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000130985 ENSG00000130985 HGNC:12469 ZC4H2 gene ZC4H2 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000126970 ENSG00000126970 HGNC:24931 ZIC3 gene ZIC3 Expert Review Green;Victorian Clinical Genetics Services Arthrogryposis Victorian Clinical Genetics Services Neuromuscular disorders Neurology and neurodevelopmental disorders False 3 0;0;0 0.7 False ENSG00000156925 ENSG00000156925 HGNC:12874