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 AP1S2 gene AP1S2 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 Flexion contracture;HP:0001371 30714330 False 1 0;0;100 0.416 True ENSG00000182287 ENSG00000182287 HGNC:560 B3GALNT2 gene B3GALNT2 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GNT2 gene B3GNT2 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Flexion contracture;HP:0001371 23359570;23877401 False 1 0;0;100 0.416 True ENSG00000170340 ENSG00000170340 HGNC:15629 B4GAT1 gene B4GAT1 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Flexion contracture;HP:0001371 23359570;23877401;23359570;23217742 False 1 50;0;50 0.416 True ENSG00000174684 ENSG00000174684 HGNC:15685 CAMLG gene CAMLG Expert Review Red;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 Flexion contracture;HP:0001371 35262690 False 1 0;0;100 0.416 True ENSG00000164615 ENSG00000164615 HGNC:1471 CASK gene CASK Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females FG syndrome 4, MIM# 300422;Mental retardation, with or without nystagmus, MIM# 300422 Flexion contracture;HP:0001371 24278995 False 1 0;0;100 0.416 True ENSG00000147044 ENSG00000147044 HGNC:1497 COG8 gene COG8 Expert Review Red;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIh 611182" Flexion contracture;HP:0001371 PMID: 30690882 False 1 0;0;100 0.416 True ENSG00000213380 ENSG00000213380 HGNC:18623 DAG1 gene DAG1 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538) Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000173402 ENSG00000173402 HGNC:2666 DCX gene DCX Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked, MIM# 300067 Flexion contracture;HP:0001371 20301364 False 1 0;0;100 0.416 True ENSG00000077279 ENSG00000077279 HGNC:2714 EIF2S3 gene EIF2S3 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 Flexion contracture;HP:0001371 23063529;27333055;28055140 False 1 0;0;100 0.416 True ENSG00000130741 ENSG00000130741 HGNC:3267 FGD1 gene FGD1 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome, MIM# 305400;Mental retardation, X-linked syndromic 16, MIM# 305400 Flexion contracture;HP:0001371 27551683 False 1 0;0;100 0.416 True ENSG00000102302 ENSG00000102302 HGNC:3663 FHL1 gene FHL1 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696;Myopathy, X-linked, with postural muscle atrophy, MIM# 300696;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, MIM# 300718;Scapuloperoneal myopathy, X-linked dominant, MIM# 300695 Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000022267 ENSG00000022267 HGNC:3702 GPC3 gene GPC3 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 Flexion contracture;HP:0001371 20301398 False 1 0;0;100 0.416 True ENSG00000147257 ENSG00000147257 HGNC:4451 KIF26B gene KIF26B Expert Review;Expert Review Red Arthrogryposis Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Flexion contracture;HP:0001371 30151950 False 1 0;0;100 0.416 True ENSG00000162849 ENSG00000162849 HGNC:25484 L1CAM gene L1CAM Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus due to aqueductal stenosis 307000 Flexion contracture;HP:0001371 31504653 False 1 0;0;100 0.416 True ENSG00000198910 ENSG00000198910 HGNC:6470 MYH7 gene MYH7 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing distal myopathy 160500;Myopathy, myosin storage, autosomal dominant 608358;Myopathy, myosin storage, autosomal recessive 255160;Scapuloperoneal syndrome, myopathic type 181430 Flexion contracture;HP:0001371 29300372;30924982;24714796;30623132;27519903 False 1 50;0;50 0.416 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYL1 gene MYL1 Expert list;Expert Review Red Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414 Flexion contracture;HP:0001371 30215711 False 1 0;0;100 0.416 True ENSG00000168530 ENSG00000168530 HGNC:7582 NFATC2 gene NFATC2 Expert Review Red;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Skeletal system disorder MONDO:0005172 Flexion contracture;HP:0001371 35789258 False 1 0;0;100 0.416 True ENSG00000101096 ENSG00000101096 HGNC:7776 OFD1 gene OFD1 Expert Review Red;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) Joubert syndrome 10, MIM# 300804;Orofaciodigital syndrome I, MIM# 311200;Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209 Flexion contracture;HP:0001371 20301367 False 1 0;0;100 0.416 True ENSG00000046651 ENSG00000046651 HGNC:2567 RBM10 gene RBM10 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, MIM# 311900 Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000182872 ENSG00000182872 HGNC:9896 TBX22 gene TBX22 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders Unknown Cleft palate with ankyloglossia, MIM# 303400 Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000122145 ENSG00000122145 HGNC:11600 TMEM5 gene TMEM5 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000118600 ENSG00000118600 HGNC:13530 UNC80 gene UNC80 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 Flexion contracture;HP:0001371 26545877;26708753;26708751 False 1 0;0;100 0.416 True ENSG00000144406 ENSG00000144406 HGNC:26582 USP14 gene USP14 Expert Review Red;Literature Arthrogryposis Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254, USP14-related;Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features Flexion contracture;HP:0001371 PMID: 35066879 False 1 0;0;100 0.416 True ENSG00000101557 ENSG00000101557 HGNC:12612 ZIC3 gene ZIC3 Expert Review Red;Victorian Clinical Genetics Services Arthrogryposis Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Heterotaxy, visceral, 1, X-linked, MIM# 306955;VACTERL association, X-linked, MIM# 314390 Flexion contracture;HP:0001371 False 1 0;0;100 0.416 True ENSG00000156925 ENSG00000156925 HGNC:12874