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 ACTB gene ACTB Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1 (MIM#243310) Flexion contracture;HP:0001371 32588558;27625340 False 2 0;100;0 1.19 True ENSG00000075624 ENSG00000075624 HGNC:132 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 1.19 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Farber lipogranulomatosis, MIM# 228000" Flexion contracture;HP:0001371 31022067 False 2 0;100;0 1.19 True ENSG00000104763 ENSG00000104763 HGNC:735 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 1.19 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 1.19 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 1.19 True ENSG00000176022 ENSG00000176022 HGNC:17978 CHRNE gene CHRNE Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 4, MONDO:1040021 Flexion contracture;HP:0001371 33193787 False 2 0;100;0 1.19 True ENSG00000108556 ENSG00000108556 HGNC:1966 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 1.19 True ENSG00000018236 ENSG00000018236 HGNC:2171 COLQ gene COLQ Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5, MIM# 603034 Flexion contracture;HP:0001371 9689136;9758617;11865139;32978031;31831253 False 2 0;100;0 1.19 True ENSG00000206561 ENSG00000206561 HGNC:2226 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 1.19 True ENSG00000136908 ENSG00000136908 HGNC:3006 ELMSAN1 gene ELMSAN1 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000156030 ENSG00000156030 HGNC:19853 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 1.19 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 1.19 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 1.19 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 1.19 True ENSG00000167178 ENSG00000167178 HGNC:29286 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 33;67;0 1.19 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 1.19 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 1.19 True ENSG00000066933 ENSG00000066933 HGNC:7608 NUBP2 gene NUBP2 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 Flexion contracture;HP:0001371 39867373 False 2 0;100;0 1.19 False ENSG00000095906 ENSG00000095906 HGNC:8042 PEX11B gene PEX11B Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B - MIM#614920 Flexion contracture;HP:0001371 20301621;22581968 False 2 50;50;0 1.19 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX2 gene PEX2 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110) Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000124587 ENSG00000124587 HGNC:8859 PI4KA gene PI4KA Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 Flexion contracture;HP:0001371 PMID: 25855803 False 2 0;100;0 1.19 True ENSG00000241973 ENSG00000241973 HGNC:8983 POMGNT2 gene POMGNT2 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM# 618135 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000144647 ENSG00000144647 HGNC:25902 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 1.19 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 1.19 True ENSG00000198689 ENSG00000198689 HGNC:11079 SMAD3 gene SMAD3 Expert Review Amber;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 Flexion contracture;HP:0001371 False 2 0;100;0 1.19 True ENSG00000166949 ENSG00000166949 HGNC:6769 SVIL gene SVIL Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy, MIM#619040 Flexion contracture;HP:0001371 32779703 False 2 0;100;0 1.19 True ENSG00000197321 ENSG00000197321 HGNC:11480 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 1.19 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 1.19 True ENSG00000159173 ENSG00000159173 HGNC:11945 UNC50 gene UNC50 Expert Review Amber;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita MONDO:0015168 Flexion contracture;HP:0001371 29016857;33820833;40219868 False 2 0;100;0 1.19 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 1.19 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 1.19 True ENSG00000179627 ENSG00000179627 HGNC:32550