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 AKT3 gene AKT3 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Polydactyly;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 23592320;22729224;23745724;22500628;22729223 False 1 0;0;0 7.25 False ENSG00000117020 ENSG00000117020 HGNC:393 ALX3 gene ALX3 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Polydactyly False 1 0;0;0 7.25 False ENSG00000156150 ENSG00000156150 HGNC:449 ARMC8 gene ARMC8 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Polydactyly False 1 0;0;0 7.25 False ENSG00000114098 ENSG00000114098 HGNC:24999 B9D1 gene B9D1 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627;24886560 False 1 0;0;0 7.25 False ENSG00000108641 ENSG00000108641 HGNC:24123 C8orf37 gene C8orf37 Expert list Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 27008867;26854863 False 1 0;0;100 7.25 False ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC28B gene CCDC28B Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal {Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;0;100 7.25 False ENSG00000160050 ENSG00000160050 HGNC:28163 CD96 gene CD96 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Polydactyly;C syndrome 211750 17847009;16835930;16528754;16528754;26768331 False 1 0;0;0 7.25 False ENSG00000153283 ENSG00000153283 HGNC:16892 CEP290 gene CEP290 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, 615991;Joubert syndrome 5, 610188;Leber congenital amaurosis 10;Meckel syndrome 4,611134;Senior-Loken syndrome 6,610189;Polydactyly False 1 100;0;0 7.25 False ENSG00000198707 ENSG00000198707 HGNC:29021 DLX6 gene DLX6 Expert Review Red;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Split hand/foot malformation 1 28611547 False 1 33;0;67 7.25 False ENSG00000006377 ENSG00000006377 HGNC:2919 DVL2 gene DVL2 Expert Review Red;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal 12384700;12958364;23371553;8662242;9192851 False 1 0;0;0 7.25 False ENSG00000004975 ENSG00000004975 HGNC:3086 FANCM gene FANCM Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Radial Ray abnormality 28837162 False 1 33;0;67 7.25 False ENSG00000187790 ENSG00000187790 HGNC:23168 FMN1 gene FMN1 Expert Review Red;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal 20610440 False 1 33;0;67 7.25 False ENSG00000248905 ENSG00000248905 HGNC:3768 FSTL5 gene FSTL5 Literature Limb disorders Musculoskeletal Unknown isolated club-foot;iTEV;Talipes equinovarus 33105483 False 1 0;0;100 7.25 False ENSG00000168843 ENSG00000168843 HGNC:21386 GREM1 gene GREM1 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 26527308;22888807;16908629;15201225;20610440;22965740 False 1 25;0;75 7.25 False ENSG00000166923 ENSG00000166923 HGNC:2001 GZF1 gene GZF1 Expert list;Expert Review Red Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joint laxity, short stature, and myopia, 617662;Larsen syndrome 28475863 False 1 0;100;0 7.25 False ENSG00000125812 ENSG00000125812 HGNC:15808 HMGB1 gene HMGB1 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mirror image foot polydactyly 34159400 False 1 0;0;100 7.25 False ENSG00000189403 ENSG00000189403 HGNC:4983 HOXA11 gene HOXA11 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, OMIM:605432;radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MONDO:0024558 11101832 False 1 0;100;0 7.25 False ENSG00000005073 ENSG00000005073 HGNC:5101 IFT74 gene IFT74 Expert list Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20 617119 27486776 False 1 0;0;100 7.25 False ENSG00000096872 ENSG00000096872 HGNC:21424 MBTPS2 gene MBTPS2 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECK syndrome 308205;Polydactyly 9021007 False 1 0;0;100 7.25 False ENSG00000012174 ENSG00000012174 HGNC:15455 MIPOL1 gene MIPOL1 Expert Review Red;Other Limb disorders Musculoskeletal Unknown Mirror-image polydactyly of hands and feet 11954550 False 1 0;0;100 7.25 False ENSG00000151338 ENSG00000151338 HGNC:21460 NTN1 gene NTN1 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted polydactyly, MONDO:0021003 28945198;39648562 False 1 0;0;100 7.25 False ENSG00000065320 ENSG00000065320 HGNC:8029 PNPLA6 gene PNPLA6 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Unknown Polydactyly False 1 0;0;100 7.25 False ENSG00000032444 ENSG00000032444 HGNC:16268 POLL gene POLL Expert Review Red;Literature Limb disorders Musculoskeletal Unknown 12913067;29263051;28777841;28422522;27600068;23596994;16691619 False 1 0;0;0 7.25 False Other - please provide details in the comments ENSG00000166169 ENSG00000166169 HGNC:9184 PROM1 gene PROM1 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Unknown Polydactyly False 1 0;0;100 7.25 False ENSG00000007062 ENSG00000007062 HGNC:9454 RBM10 gene RBM10 Victorian Clinical Genetics Services Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Polydactyly;TARP syndrome 311900 21910224;20451169;24259342 False 1 0;100;0 7.25 False ENSG00000182872 ENSG00000182872 HGNC:9896 RPL17 gene RPL17 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia, MONDO:0015253 39088281 False 1 50;0;50 7.25 False ENSG00000265681 ENSG00000265681 HGNC:10307 RPS28 gene RPS28 Victorian Clinical Genetics Services Limb disorders Musculoskeletal Radial Ray abnormality False 1 0;0;0 7.25 False ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Victorian Clinical Genetics Services Limb disorders Musculoskeletal Radial Ray abnormality False 1 50;50;0 7.25 False ENSG00000213741 ENSG00000213741 HGNC:10419 SC5D gene SC5D Victorian Clinical Genetics Services Limb disorders Musculoskeletal Polydactyly False 1 0;0;0 7.25 False ENSG00000109929 ENSG00000109929 HGNC:10547 SDCCAG8 gene SDCCAG8 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 7, 613615;Bardet-Biedl syndrome 16, 615993 False 1 0;0;0 7.25 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEM1 gene SEM1 Expert Review Red;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Split hand/foot malformation 1, 183600 False 1 50;0;50 7.25 False ENSG00000127922 ENSG00000127922 HGNC:10845 SHH gene SHH Expert Review Red;Literature;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Preaxial polydactyly;holoprosencephaly;preaxial polydactyly;Polydactyly 25782671;12837695;12032320 False 1 25;25;50 7.25 False ENSG00000164690 ENSG00000164690 HGNC:10848 SLC25A21 gene SLC25A21 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial synpolydactyly of the hands and feet;familial synpolydactyly of the hands and feet 22011226;25759628;14504231 False 1 0;0;100 7.25 False ENSG00000183032 ENSG00000183032 HGNC:14411 SOX9 gene SOX9 Expert Review Red;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachydactyly-anonychia;brachydactyly-anonychia 24704791;19639023 False 1 0;33;67 7.25 False ENSG00000125398 ENSG00000125398 HGNC:11204 TBX22 gene TBX22 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Polydactyly;?Abruzzo-Erickson syndrome, 302905;Cleft palate with ankyloglossia, 303400;Radioulnar synostosis;upper limb anomalies;clinodactyly 21375406;839509;22784330 False 1 0;0;0 7.25 False ENSG00000122145 ENSG00000122145 HGNC:11600 TRIM32 gene TRIM32 Expert Review Red;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, 615988;Polydactyly 20301537;16606853 False 1 0;0;100 7.25 False ENSG00000119401 ENSG00000119401 HGNC:16380 ZNF141 gene ZNF141 Expert Review Red;Other;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Polydactyly, postaxial, type A6 615226;Polydactyly 23160277 False 1 0;0;100 7.25 False ENSG00000131127 ENSG00000131127 HGNC:12926