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 ARHGAP31 gene ARHGAP31 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1, 100300 21565291;29924900 False 3 100;0;0 7.25 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARL6 gene ARL6 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 3 600151 15258860;15314642;19858128 False 3 0;0;0 7.25 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARSE gene ARSE Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females CDPXL;Chondrodysplasia punctata, X-linked recessive, 302950;X-linked recessive chondrodysplasia punctata;CHONDRODYSPLASIA PUNCTATA 1, X-LINKED False 3 100;0;0 7.25 False ENSG00000157399 ENSG00000157399 HGNC:719 ASXL1 gene ASXL1 Expert list;Expert Review Green Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bohring-Opitz syndrome, OMIM:605039;Bohring-Opitz syndrome, MONDO:0011510 21706002;22419483 False 3 0;100;0 7.25 False ENSG00000171456 ENSG00000171456 HGNC:18318 BBS1 gene BBS1 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 12118255;12567324;12677556;12524598;23143442;11567139 False 3 0;0;0 7.25 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 10, 615987 False 3 0;0;0 7.25 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 12, 615989 False 3 0;0;0 7.25 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 2, 615981 False 3 0;0;0 7.25 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 4, 615982 False 3 0;0;0 7.25 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 5, 615983 False 3 0;0;0 7.25 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 7, 615984 False 3 0;0;0 7.25 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 9, 615986 False 3 0;0;0 7.25 False ENSG00000122507 ENSG00000122507 HGNC:30000 BHLHA9 gene BHLHA9 Expert list;Expert Review Green;London South East RGC GSTT;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432;Polydactyly 23790188;22147889 False 3 100;0;0 7.25 False ENSG00000205899 ENSG00000205899 HGNC:35126 BMP2 gene BMP2 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brachydactyly, type A2 112600;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877 19327734;21357617;29198724;29129813 False 3 100;0;0 7.25 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polydactyly;Microphthalmia, syndromic 6 607932 18252212;21340693 False 3 0;0;0 7.25 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMPR1B gene BMPR1B Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type, OMIM:609441;Brachydactyly, type A1, D, OMIM:616849;Brachydactyly, type A2, OMIM:112600 False 3 100;0;0 7.25 False ENSG00000138696 ENSG00000138696 HGNC:1077 BRCA2 gene BRCA2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 11239453;12065746;14670928;28185119 False 3 100;0;0 7.25 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054;Radial ray abnormality 16153896;16116424;14630800;16116423 False 3 100;0;0 7.25 False ENSG00000136492 ENSG00000136492 HGNC:20473 CCND2 gene CCND2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polydactyly;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 24705253 False 3 0;0;0 7.25 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000118971 ENSG00000118971 HGNC:1583 CDX2 gene CDX2 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple congenital anomalies 29177441;32058622;34671974 False 3 100;0;0 7.25 False ENSG00000165556 ENSG00000165556 HGNC:1806 CENPF gene CENPF Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605 False 3 0;0;0 7.25 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP55 gene CEP55 Expert Review Green;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal microcephaly, developmental delay and bilateral toe syndactyly 32100459 False 3 0;0;0 7.25 False ENSG00000138180 ENSG00000138180 HGNC:1161 CHSY1 gene CHSY1 Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282 21129728;21129727 False 3 0;0;0 7.25 False ENSG00000131873 ENSG00000131873 HGNC:17198 CKAP2L gene CKAP2L Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Filippi syndrome 272440;FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 25439729 False 3 0;0;0 7.25 False ENSG00000169607 ENSG00000169607 HGNC:26877 COL2A1 gene COL2A1 Expert Review Green;Other Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Platyspondylic skeletal dysplasia, Torrance type 151210;Achondrogenesis, type II or hypochondrogenesis 200610;Spondyloperipheral dysplasia 271700 14729840;15266623;8723097;15316962 False 3 0;0;0 7.25 False ENSG00000139219 ENSG00000139219 HGNC:2200 DDX59 gene DDX59 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V 174300;Polydactyly 29127725;28711741;23972372 False 3 100;0;0 7.25 False ENSG00000118197 ENSG00000118197 HGNC:25360 DLL4 gene DLL4 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 6 616589 26299364 False 3 0;0;0 7.25 False ENSG00000128917 ENSG00000128917 HGNC:2910 DLX5 gene DLX5 Expert list;Expert Review Green;London South East RGC GSTT;NHS GMS;Viapath Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600;Split-hand/foot malformation 1, OMIM:183600 False 3 100;0;0 7.25 False ENSG00000105880 ENSG00000105880 HGNC:2918 DOCK6 gene DOCK6 Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2, 614219 False 3 100;0;0 7.25 False ENSG00000130158 ENSG00000130158 HGNC:19189 DVL1 gene DVL1 Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 2, 616331 25817016 False 3 100;0;0 7.25 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Robinow syndrome, autosomal dominant 3 616894 26924530 False 3 0;0;0 7.25 False ENSG00000161202 ENSG00000161202 HGNC:3087 EBP gene EBP Expert Review Green;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;Chondrodysplasia punctata, X-linked dominant 302960 10942423;10391218;10391219;12509714 False 3 100;0;0 7.25 False ENSG00000147155 ENSG00000147155 HGNC:3133 EFTUD2 gene EFTUD2 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 22305528 False 3 100;0;0 7.25 False ENSG00000108883 ENSG00000108883 HGNC:30858 EOGT gene EOGT Expert list;Expert Review Green;London South East RGC GSTT;UKGTN;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Adams Oliver syndrome 4, 615297 False 3 100;0;0 7.25 False ENSG00000163378 ENSG00000163378 HGNC:28526 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272;Radial Ray abnormality 23623389;23623386;24027083 False 3 75;25;0 7.25 False ENSG00000175595 ENSG00000175595 HGNC:3436 ESCO2 gene ESCO2 Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal absence of radii, SC phocomelia syndrome, 269000;Roberts syndrome, 268300;radial aplasia False 3 100;0;0 7.25 False ENSG00000171320 ENSG00000171320 HGNC:27230 FAM58A gene FAM58A Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAR syndrome, 300707 False 3 100;0;0 7.25 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650;Radial Ray abnormality 8896563 False 3 100;0;0 7.25 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;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) Fanconi anemia, complementation group B, 300514;VACTERL Association with Hydrocephalus;Vacterl Association, X-Linked, With Or Without Hydrocephalus;Fanconi Anemia, Complementation Group B;VACTERL-Hydrocephalus Syndrome;Fanconi Anemia, X-Linked;Radial Ray abnormality;Fanconi Anemia Type B 15502827 False 3 100;0;0 7.25 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, 227645;Radial Ray abnormality 1574115 False 3 100;0;0 7.25 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, 227646;Radial Ray abnormality 11239454 False 3 100;0;0 7.25 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, 600901;Radial Ray abnormality 9147877;10205272;7662964;9382107 False 3 100;0;0 7.25 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F, 603467;Radial Ray abnormality 10615118 False 3 100;0;0 7.25 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Radial Ray abnormality;Fanconi anemia, complementation group G, 614082 9806548 False 3 100;0;0 7.25 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053;Radial Ray abnormality 11239453;17452773 False 3 100;0;0 7.25 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Radial Ray abnormality;Fanconi anemia, complementation group L, 614083 25754594;12973351;19405097;12724401 False 3 100;0;0 7.25 False ENSG00000115392 ENSG00000115392 HGNC:20748 FBXW11 gene FBXW11 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914;neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 31402090 False 3 100;0;0 7.25 False ENSG00000072803 ENSG00000072803 HGNC:13607 FGD1 gene FGD1 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome 305400 14560308;20082460;17152066;11093277;7954831;10930571;15809997 False 3 50;50;0 7.25 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGF10 gene FGF10 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polydactyly;Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs;LADD syndrome 149730;LADD syndrome, 149730;short radius False 3 100;0;0 7.25 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF16 gene FGF16 Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Metacarpal 4-5 fusion, 309630 False 3 100;0;0 7.25 False ENSG00000196468 ENSG00000196468 HGNC:3672 FGFR1 gene FGFR1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950;Hartsfield syndrome, OMIM:615465 23154428;23812909;25394172;27055092 False 3 100;0;0 7.25 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polydactyly;LADD syndrome 149730;LADD syndrome, 149730;Craniosynostosis, nonspecific Crouzon syndrome 123500;short radius;Craniofacial-skeletal-dermatologic dysplasia 101600;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Gastric cancer, somatic 613659;Beare-Stevenson cutis gyrata syndrome 123790;Jackson-Weiss syndrome 123150;Pfeiffer syndrome 101600;Bent bone dysplasia syndrome 614592;Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs;Apert syndrome 101200 False 3 100;0;0 7.25 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thanatophoric dysplasia, type II 187601;Polydactyly;LADD syndrome 149730;LADD syndrome, 149730;short radius;Achondroplasia 100800;SADDAN 616482;Thanatophoric dysplasia, type I 187600;Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs;Hypochondroplasia 146000;CATSHL syndrome 610474;Crouzon syndrome with acanthosis nigricans 612247;Muenke syndrome 602849 False 3 100;0;0 7.25 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Yunis Varon syndrome OMIM:216340;Yunis-Varon syndrome MONDO:0008995 23623387 False 3 100;0;0 7.25 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLNA gene FLNA Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Frontometaphyseal dysplasia 1, OMIM:305620;Melnick-Needles syndrome, OMIM:309350;Otopalatodigital syndrome, type I, OMIM:311300;Otopalatodigital syndrome, type II, OMIM:304120;Terminal osseous dysplasia, OMIM:300244 12612583 False 3 100;0;0 7.25 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR1 gene FLVCR1 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 39306721 False 3 100;0;0 7.25 False ENSG00000162769 ENSG00000162769 HGNC:24682 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1 219000;Polydactyly 12766769;17163535;16894541 False 3 100;0;0 7.25 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 2 617666;Polydactyly 18203166;18671281;15838507 False 3 100;0;0 7.25 False ENSG00000150893 ENSG00000150893 HGNC:25396 FZD2 gene FZD2 Expert list;Expert Review Green Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Omodysplasia 2, OMIM:164745;Robinow syndrome 29276006;25759469 False 3 0;100;0 7.25 False ENSG00000180340 ENSG00000180340 HGNC:4040 GDF5 gene GDF5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Hunter-Thompson type 201250;Brachydactyly, type A1, C 615072;Brachydactyly, type A2 112600;Brachydactyly, type C 113100;Chondrodysplasia, Grebe type 200700;Du Pan syndrome 228900;Multiple synostoses syndrome 2 610017;Symphalangism, proximal, 1B 615298;{Osteoarthritis-5} 612400;Polydactyly False 3 100;0;0 7.25 False ENSG00000125965 ENSG00000125965 HGNC:4220 GJA1 gene GJA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400;Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850;Syndactyly, type III, OMIM:186100 False 3 100;0;0 7.25 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLI1 gene GLI1 Expert Review Green;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A8, 618123;Polydactyly, preaxial I, 174400 28973407;30620395 False 3 0;100;0 7.25 False ENSG00000111087 ENSG00000111087 HGNC:4317 GLI2 gene GLI2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 9 610829;Culler-Jones syndrome 615849;Polydactyly 21204792;14581620 False 3 100;0;0 7.25 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510;Polydactyly, postaxial, types A1 and B, OMIM:174200;Polydactyly, preaxial, type IV, OMIM:174700 31115189;32591344 False 3 100;0;0 7.25 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNAS gene GNAS Emory Genetics Laboratory;Expert Review Green;London South East RGC GSTT;NHS GMS;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia, OMIM:103580;pseudohypoparathyroidism type 1A, MONDO:0007078;Pseudohypoparathyroidism Ib, OMIM:603233;pseudohypoparathyroidism type 1B, MONDO:0011301;Pseudohypoparathyroidism Ic, OMIM:612462;pseudohypoparathyroidism type 1C, MONDO:0012911;McCune-Albright syndrome, somatic, mosaic, OMIM:174800;panostotic fibrous dysplasia, MONDO:0043168;Osseous heteroplasia, progressive, OMIM:166350;ACTH-independent macronodular adrenal hyperplasia. OMIM:219080;ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735;Pseudopseudohypoparathyroidism, OMIM:612463;pseudopseudohypoparathyroidism, MONDO:0012912 False 3 100;0;0 7.25 False ENSG00000087460 ENSG00000087460 HGNC:4392 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1 312870;Polydactyly 10814714 False 3 100;0;0 7.25 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3 617667;Polydactyly 22510445;24357607 False 3 100;0;0 7.25 False ENSG00000155974 ENSG00000155974 HGNC:18708 HDAC8 gene HDAC8 Expert Review Green;Other Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 5, 300882 False 3 100;0;0 7.25 False ENSG00000147099 ENSG00000147099 HGNC:13315 HEATR3 gene HEATR3 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Anemia;Thrombocytopenia;Growth delay;Short stature;Abnormality of the skeletal system;Abnormality of finger;Abnormality of the thumb;Intellectual disability;Obesity;Abnormality of the face 35213692 False 3 67;33;0 7.25 False ENSG00000155393 ENSG00000155393 HGNC:26087 HOXA13 gene HOXA13 Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-genital syndrome 140000;Hand-foot-uterus syndrome, 140000;Guttmacher syndrome 176305;Polydactyly 10839976;9020844 False 3 100;0;0 7.25 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXD13 gene HOXD13 Emory Genetics Laboratory;Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly-syndactyly syndrome 610713;Brachydactyly, type D 113200;Brachydactyly, type E 113300;Syndactyly, type V 186300;Synpolydactyly 1 186000;Polydactyly 9758628;12649808;17236141 False 3 100;0;0 7.25 False ENSG00000128714 ENSG00000128714 HGNC:5136 IFT27 gene IFT27 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996;Polydactyly 24488770;29704304;30761183;29588463 False 3 50;50;0 7.25 False ENSG00000100360 ENSG00000100360 HGNC:18626 IHH gene IHH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia, OMIM:607778;Brachydactyly, type A1, OMIM:112500 21167467;25959774 False 3 100;0;0 7.25 False ENSG00000163501 ENSG00000163501 HGNC:5956 IQCE gene IQCE Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A7 OMIM:617642;polydactyly, postaxial, type a7 MONDO:0060550 28488682;31549751 False 3 67;0;33 7.25 False ENSG00000106012 ENSG00000106012 HGNC:29171 KCNH1 gene KCNH1 Expert Review Green;Other Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoplasia of terminal phalanges;Temple-Baraitser syndrome, 611816 25420144 False 3 100;0;0 7.25 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNN3 gene KCNN3 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zimmermann-Laband syndrome 3, OMIM:618658;Zimmermann-laband syndrome 3, MONDO:0032854 31155282;33594261 False 3 100;0;0 7.25 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143603 ENSG00000143603 HGNC:6292 KIAA0825 gene KIAA0825 Expert Review Green;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A10 OMIM:618498;polydactyly, postaxial, type a10 MONDO:0032785 32147526;30982135 False 3 100;0;0 7.25 False ENSG00000185261 ENSG00000185261 HGNC:28532 KYNU gene KYNU Expert Review Green;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661;hand hyperphalangism 31923704 False 3 100;0;0 7.25 False ENSG00000115919 ENSG00000115919 HGNC:6469 LBR gene LBR Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal mesomelia;Greenberg skeletal dysplasia, 215140;rhizomelia;post-axial polydactyly;Polydactyly 18382993;12618959;21327084;12118250;29068549 False 3 100;0;0 7.25 False ENSG00000143815 ENSG00000143815 HGNC:6518 LMBR1 gene LMBR1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polydactyly;Syndactyly, type IV 186200;Laurin-Sandrow syndrome,135750;Acheiropody 200500;Triphalangeal thumb type I,174500;Triphalangeal thumb, type I 174500;Laurin-Sandrow syndrome 135750;Polydactyly, preaxial type II 174500;Hypoplastic or aplastic tibia with polydactyly 188740;Triphalangeal thumb-polysyndactyly syndrome 174500;Triphalangeal Thumb-Polysyndactyly Syndrome False 3 100;0;0 7.25 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMX1B gene LMX1B Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome 161200 False 3 100;0;0 7.25 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRP4 gene LRP4 Expert Review Green;Other;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome, OMIM:212780;CLSS;Cenani syndactyly;Cenani-Lenz syndactyly;Syndactyly type 7;Polydactyly False 3 0;0;0 7.25 False ENSG00000134569 ENSG00000134569 HGNC:6696 LTBP1 gene LTBP1 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE, OMIM:619451;Brachydactyly, HP:0001156;Clinodactyly, HP:0030084;Syndactyly, HP:0001159 33991472 False 3 100;0;0 7.25 False ENSG00000049323 ENSG00000049323 HGNC:6714 LZTFL1 gene LZTFL1 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 615994;Polydactyly 22510444;23692385 False 3 100;0;0 7.25 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAPKAPK5 gene MAPKAPK5 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Neurocardiofaciodigital syndrome, OMIM:619869 33442026;35575217;36581449 False 3 67;33;0 7.25 False ENSG00000089022 ENSG00000089022 HGNC:6889 MECOM gene MECOM Expert Review Green;Other Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 26581901;29200407;30536840 False 3 50;50;0 7.25 False ENSG00000085276 ENSG00000085276 HGNC:3498 MEGF8 gene MEGF8 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Carpenter syndrome 2 614976 23063620 False 3 100;0;0 7.25 False ENSG00000105429 ENSG00000105429 HGNC:3233 MKKS gene MKKS Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 6, 605231;McKusick-Kaufman syndrome, 236700 False 3 0;0;0 7.25 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Emory Genetics Laboratory;Expert list;Expert Review Green;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 13 615990;Meckel syndrome 1 249000;Joubert syndrome 28, 617121;Polydactyly False 3 100;0;0 7.25 False ENSG00000011143 ENSG00000011143 HGNC:7121 MYCN gene MYCN Emory Genetics Laboratory;Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 False 3 100;0;0 7.25 False ENSG00000134323 ENSG00000134323 HGNC:7559 NIPBL gene NIPBL Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDLS1;upper limb anomalies;Cornelia de Lange syndrome 1 122470;Dislocation of the radial head;Cornelia de Lange syndrome 1, 122470 False 3 100;0;0 7.25 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOG gene NOG Emory Genetics Laboratory;Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type B2 611377;Multiple synostoses syndrome 1 186500;Stapes ankylosis with broad thumb and toes 184460;Symphalangism, proximal, 1A 185800;Tarsal-carpal coalition syndrome 186570 False 3 100;0;0 7.25 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH1 gene NOTCH1 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adams-Oliver syndrome 5, 616028;Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly);AOS;Limb, scalp and skull defects 25132448;25963545;27077170;25132448 False 3 0;0;0 7.25 False ENSG00000148400 ENSG00000148400 HGNC:7881 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, 610832;Radial Ray abnormality 17200671;17200672 False 3 100;0;0 7.25 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAX3 gene PAX3 Expert list;Expert Review Green Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome, type 3, 148820 6340503;12949970;7726174;26443304;8447316;11683776;30173992 False 3 0;100;0 7.25 False ENSG00000135903 ENSG00000135903 HGNC:8617 PCNT gene PCNT Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 False 3 100;0;0 7.25 False ENSG00000160299 ENSG00000160299 HGNC:16068 PDE3A gene PDE3A Expert Review Green;Other Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertension and brachydactyly syndrome 112410 25961942 False 3 0;0;0 7.25 False ENSG00000172572 ENSG00000172572 HGNC:8778 PIK3CA gene PIK3CA Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrodactyly, somatic 155500;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501;CLOVE syndrome, somatic 612918;Polydactyly;CLAPO syndrome, somatic 613089 23100325;19353582;29446767;22729224;19011570 False 3 100;0;0 7.25 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 23745724;22729224;26520804 False 3 100;0;0 7.25 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105647 ENSG00000105647 HGNC:8980 PITX1 gene PITX1 Emory Genetics Laboratory;Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800;Liebenberg syndrome 186550;Polydactyly 23587911;23022097 False 3 100;0;0 7.25 False ENSG00000069011 ENSG00000069011 HGNC:9004 PORCN gene PORCN Expert Review Green;Other;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) focal dermal hypoplasia 305600;Polydactyly 17546030;17546031;18325042;19309688; 19863546 False 3 0;0;0 7.25 False ENSG00000102312 ENSG00000102312 HGNC:17652 PRKACA gene PRKACA Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 1, OMIM:619142 33058759;31130284 False 3 100;0;0 7.25 False ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert Review Green;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, OMIM:619143 33058759 False 3 100;0;0 7.25 False ENSG00000142875 ENSG00000142875 HGNC:9381 PRMT7 gene PRMT7 Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157;Pseudohypoparathyroidism-like disorder 26437029;27718516 False 3 0;0;0 7.25 False ENSG00000132600 ENSG00000132600 HGNC:25557 PTHLH gene PTHLH Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type E2 613382 False 3 100;0;0 7.25 False ENSG00000087494 ENSG00000087494 HGNC:9607 RAB23 gene RAB23 Expert list;Expert Review Green;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 Carpenter syndrome 201000;Polydactyly;ACROCEPHALOPOLYSYNDACTYLY TYPE 2 False 3 100;0;0 7.25 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAD51 gene RAD51 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R, OMIM:617244 26681308;26253028;30907510 False 3 100;0;0 7.25 False ENSG00000051180 ENSG00000051180 HGNC:9817 RBM8A gene RBM8A Emory Genetics Laboratory;Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, 274000 22366785 False 3 50;50;0 7.25 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, 614814 22883147;28160419;29924900 False 3 100;0;0 7.25 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert Review Green;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, OMIM:218600;RAPADILINO syndrome, OMIM:266280;Rothmund-Thomson syndrome, type 2, OMIM:268400 False 3 100;0;0 7.25 False ENSG00000160957 ENSG00000160957 HGNC:9949 RNU4ATAC gene RNU4ATAC Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome, OMIM:226960;Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710;Roifman syndrome, OMIM:616651 False 3 100;0;0 7.25 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1, OMIM:113000 (AD);Robinow syndrome, autosomal recessive, OMIM:268310 (AR) False 3 100;0;0 7.25 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 7, 612562;hypoplastic thumb;Radial Ray abnormality;thumb abnormalities 19191325;19061985 False 3 100;0;0 7.25 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL26 gene RPL26 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Diamond-Blackfan anemia 11, OMIM:614900 22431104;39268718 False 3 75;0;25 7.25 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown upper limb malformation;Diamond-Blackfan anemia 5, 612528;Radial Ray abnormality 18535205 False 3 100;0;0 7.25 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 6, 612561;Radial Ray abnormality;thumb abnormalities 19191325;19061985 False 3 100;0;0 7.25 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown upper limb malformation;Diamond-Blackfan anemia 9, 613308;Radial Ray abnormality 20116044 False 3 100;0;0 7.25 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4, 612527;Radial Ray abnormality 17647292;19953637;22045982;19061985 False 3 100;0;0 7.25 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mild radial hypoplasia;Diamond-Blackfan anemia 1, 105650;Hypoplastic thumbs;Absent thumbs;Radial Ray abnormality;Triphalangeal thumbs 15384984;9988267;1746615 False 3 100;0;0 7.25 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 3, 610629;Radial Ray abnormality;upper limb malformation 17186470;2210388;8647458;19689926;19773262 False 3 100;0;0 7.25 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 10, 613309;upper limb malformation;Radial Ray abnormality 20116044 False 3 100;0;0 7.25 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 8, 612563;upper limb malformation;Radial Ray abnormality 19061985 False 3 100;0;0 7.25 False ENSG00000171863 ENSG00000171863 HGNC:10440 SALL1 gene SALL1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radial Ray abnormality;Polydactyly;Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome), 107480;Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 False 3 100;0;0 7.25 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly;IVIC syndrome, 147750;Radial Ray abnormality;IVIC syndrome 147750;Duane-radial ray syndrome, 607323;Okihiro (Duane-radial ray) syndrome 607323 False 3 100;0;0 7.25 False ENSG00000101115 ENSG00000101115 HGNC:15924 SCUBE3 gene SCUBE3 Expert Review Green;NHS GMS;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184;short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 33308444 False 3 100;0;0 7.25 False ENSG00000146197 ENSG00000146197 HGNC:13655 SF3B4 gene SF3B4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis 1, Nager type, 154400;Acrofacial dysostosis 1, Nager type 154400 False 3 100;0;0 7.25 False ENSG00000143368 ENSG00000143368 HGNC:10771 SFRP4 gene SFRP4 Expert Review Green;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Pyle disease, 265900;PYL;Metaphyseal dysplasia 27355534;27117872;24096177;26273529;22965941;22387305;20174869;27117872;28100910 False 3 0;0;0 7.25 False ENSG00000106483 ENSG00000106483 HGNC:10778 SHOX gene SHOX Expert Review Green;Other Limb disorders Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582;Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shortening False 3 100;0;0 7.25 False ENSG00000185960 ENSG00000185960 HGNC:10853 SLC26A2 gene SLC26A2 Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Diastrophic dysplasia, broad bone-platyspondylic variant;Diastrophic dysplasia;Epiphyseal dysplasia, multiple, 4;Atelosteogenesis, type II False 3 0;0;0 7.25 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLX4 gene SLX4 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, 613951;Radial Ray abnormality 21240277;21240275 False 3 100;0;0 7.25 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD6 gene SMAD6 Expert list;Expert Review Green Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown radioulnar synostosis 31138930 False 3 0;100;0 7.25 False ENSG00000137834 ENSG00000137834 HGNC:6772 SMC1A gene SMC1A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370 20358602 False 3 100;0;0 7.25 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 3 610759;Cornelia de Lange syndrome 3, 610759 25125236 False 3 100;0;0 7.25 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMO gene SMO Expert list;Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Curry-Jones syndrome, somatic mosaic, OMIM:601500;postaxial polydactyly MONDO:0020927;Microcephaly HP:0000252;congenital heart disease MONDO:0005453;Hirschsprung disease MONDO:0018309 27236920;32413283 False 3 100;0;0 7.25 False Other ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 Expert Review Green;Other;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ophthalmo-acromelic syndrome;Microphthalmia with limb anomalies 206920;Polydactyly 21194678;21194680 False 3 0;0;0 7.25 False ENSG00000198732 ENSG00000198732 HGNC:20318 TBX3 gene TBX3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ulnar-mammary syndrome 181450;Polydactyly;Ulnar-mammary syndrome, 181450;Radial Ray abnormality;Hypoplastic/absent/deformed radius False 3 100;0;0 7.25 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 False 3 100;0;0 7.25 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holt-Oram syndrome,142900;Polydactyly;Holt-Oram syndrome 142900;Radial Ray abnormality 8730285;31373354 False 3 100;0;0 7.25 False ENSG00000089225 ENSG00000089225 HGNC:11604 TFAP2B gene TFAP2B Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polydactyly;Clinodactyly;Char syndrome, 169100 15684060;11505339;10955477 False 3 0;0;0 7.25 False ENSG00000008196 ENSG00000008196 HGNC:11743 TGDS gene TGDS Expert Review Green;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome 616145 25480037 False 3 100;0;0 7.25 False ENSG00000088451 ENSG00000088451 HGNC:20324 TMEM67 gene TMEM67 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 6 610688;Meckel syndrome 3 607361;{Bardet-Biedl syndrome 14, modifier of} 615991;Polydactyly False 3 100;0;0 7.25 False ENSG00000164953 ENSG00000164953 HGNC:28396 TP63 gene TP63 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADULT syndrome, OMIM:103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292;Limb-mammary syndrome, OMIM:603543;Split-hand/foot malformation 4, OMIM:605289 False 3 100;0;0 7.25 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRPS1 gene TRPS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trichorhinophalangeal syndrome, type I 190350;Trichorhinophalangeal syndrome, type III 190351 False 3 100;0;0 7.25 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert Review Green;Other Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Digital arthropathy-brachydactyly, familial 606835 21964574 False 3 0;0;0 7.25 False ENSG00000111199 ENSG00000111199 HGNC:18083 TTC8 gene TTC8 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 8, 615985 False 3 0;0;0 7.25 False ENSG00000165533 ENSG00000165533 HGNC:20087 TWIST1 gene TWIST1 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Robinow-Sorauf syndrome, 180750;Saethre-Chotzen syndrome, 101400;Polydactyly 11754069;12791045;16251895;10465122;30152628;9792856;11977182;25565733;9585583 False 3 100;0;0 7.25 False ENSG00000122691 ENSG00000122691 HGNC:12428 TXNDC15 gene TXNDC15 Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 100;0;0 7.25 False ENSG00000113621 ENSG00000113621 HGNC:20652 UBA2 gene UBA2 Expert Review Green;Literature;NHS GMS Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown split hand-foot malformation MONDO:0016576;aplasia cutis congenita (disease) MONDO:0007145;ectrodactyly 31332306;24243649;29988626;31587267;34159400 False 3 100;0;0 7.25 False ENSG00000126261 ENSG00000126261 HGNC:30661 UBE2T gene UBE2T Expert Review Green;Other Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia, Complementation Group T, 616435 26046368;26119737;26085575 False 3 100;0;0 7.25 False ENSG00000077152 ENSG00000077152 HGNC:25009 USP9X gene USP9X Expert Review Green;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) Mental retardation, X-linked 99, syndromic, female-restricted;Polydactyly 26833328 False 3 100;0;0 7.25 False ENSG00000124486 ENSG00000124486 HGNC:12632 WDPCP gene WDPCP Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085;?Bardet-Biedl syndrome 15, 615992 25427950;28289185;27158779 False 3 0;0;0 7.25 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR60 gene WDR60 Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly 615503;Polydactyly 23910462 False 3 100;0;0 7.25 False ENSG00000126870 ENSG00000126870 HGNC:21862 WNT10B gene WNT10B Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;Viapath Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, OMIM:225300 24211389 False 3 100;0;0 7.25 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Robinow syndrome, autosomal dominant 1 180700 False 3 100;0;0 7.25 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Emory Genetics Laboratory;Expert list;Expert Review Green;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Ulna and fibula, absence of, with severe limb deficiency 276820;absence of a radius;Fuhrmann syndrome, 228930;Fuhrmann syndrome 228930;Ulna and fibula, absence of, with severe limb deficiency, 276820;Short, bowed radii False 3 100;0;0 7.25 False ENSG00000154764 ENSG00000154764 HGNC:12786 ZIC3 gene ZIC3 Expert Review Green Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked 314390 21465648;20452998 False 3 0;100;0 7.25 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZSWIM6 gene ZSWIM6 Expert Review Green;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acromelic frontonasal dysostosis 603671 25105228;26706854 False 3 0;100;0 7.25 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 ISCA-37394-Loss region Expert Review Green;ClinGen Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination;600430 False 3 100;0;0 7.25 False 2 239032997 241988449 3 60 cnv_loss 2q37.3 terminal region (includes HDAC4) Loss ISCA-37467-Gain region Expert Review Green;ClinGen Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype;174500;Triphalangeal thumbpolysyndactyly syndrome;syndactyly type IV with tibial hypoplasia 19291772;18417549;18178630 False 3 100;0;0 7.25 False 7 156791102 156791874 3 60 cnv_gain 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain