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 ABL1 gene ABL1 Expert Review Amber;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown congential heart disease, skeletal abnormalities and failure to thrive;clinodactyly;syndactyly;arachnodactyly 28288113 False 2 0;0;0 7.25 False Other ENSG00000097007 ENSG00000097007 HGNC:76 BBIP1 gene BBIP1 Expert list;Expert Review Amber Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 100;0;0 7.25 False ENSG00000214413 ENSG00000214413 HGNC:28093 BTRC gene BTRC Expert Review Amber;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560;split hand-foot malformation 3, MONDO:0009525 12913067;29263051;28777841;28422522;27600068;23596994;16691619;35908152;36928426 False 2 0;0;0 7.25 False Other - please provide details in the comments ENSG00000166167 ENSG00000166167 HGNC:1144 C16orf62 gene C16orf62 Expert Review Amber;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 7.25 False ENSG00000103544 ENSG00000103544 HGNC:24641 CYP26B1 gene CYP26B1 Expert list;Expert Review Amber Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 22019272;27410456 False 2 0;100;0 7.25 False ENSG00000003137 ENSG00000003137 HGNC:20581 EFNB1 gene EFNB1 Expert list;Expert Review Amber Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Craniofrontonasal dysplasia, OMIM:304110 15166289;23335590;15124102 False 2 0;100;0 7.25 False Other ENSG00000090776 ENSG00000090776 HGNC:3226 EIF4A3 gene EIF4A3 Expert list;Expert Review Amber Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Robin sequence with cleft mandible and limb anomalies, 268305 9284755;9449664 False 2 0;100;0 7.25 False ENSG00000141543 ENSG00000141543 HGNC:18683 EPHA4 gene EPHA4 Expert list;Expert Review Amber Limb disorders Musculoskeletal Unknown False 2 0;100;0 7.25 False ENSG00000116106 ENSG00000116106 HGNC:3388 FAAP100 gene FAAP100 Expert Review Amber;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group X, OMIM:621258;Fanconi anemia, MONDO:0019391 40232843;40244696 False 2 100;0;0 7.25 False ENSG00000185504 ENSG00000185504 HGNC:26171 FAM92A gene FAM92A Expert Review Amber;Literature Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal postaxial polydactyly type A9 30395363 False 2 0;100;0 7.25 False ENSG00000188343 ENSG00000188343 HGNC:30452 FBLN1 gene FBLN1 Expert Review Amber;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180;SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 11836357;24084572 False 2 50;50;0 7.25 False ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;UKGTN Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560;split hand-foot malformation 3, MONDO:0009525 19584065;18067070;12913067;16681918;27600068;30622331;35908152;36928426;18392654 False 2 100;0;0 7.25 False ENSG00000107829 ENSG00000107829 HGNC:10847 FGF9 gene FGF9 Expert Review Amber;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple synostoses syndrome 3 612961 19460469;28730625;28169396;19589401 False 2 25;50;25 7.25 False ENSG00000102678 ENSG00000102678 HGNC:3687 GATA1 gene GATA1 Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Radial Ray abnormality False 2 0;100;0 7.25 False ENSG00000102145 ENSG00000102145 HGNC:4170 HDAC4 gene HDAC4 Emory Genetics Laboratory;Expert list;Expert Review Amber;London South East RGC GSTT;Radboud University Medical Center, Nijmegen;UKGTN;Viapath Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430 20691407;15521982;19365831;30848064 False 2 100;0;0 7.25 False ENSG00000068024 ENSG00000068024 HGNC:14063 HNRNPK gene HNRNPK Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal Au-Kline syndrome 616580;Polydactyly 26173930;19477957 False 2 0;100;0 7.25 False ENSG00000165119 ENSG00000165119 HGNC:5044 IFT43 gene IFT43 Expert Review Amber;Other;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly 617866;Polydactyly 28400947 False 2 0;0;0 7.25 False ENSG00000119650 ENSG00000119650 HGNC:29669 MIR17HG gene MIR17HG Expert Review Amber;London South East RGC GSTT;Viapath Limb disorders Musculoskeletal Feingold syndrome 2 614326 21892160;19344873;25391829;26360630 False 2 50;50;0 7.25 False ENSG00000215417 ENSG00000215417 HGNC:23564 NCAPG2 gene NCAPG2 Expert list;Expert Review Amber Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Khan-Khan-Katsanis syndrome, 618460 30609410 False 2 0;100;0 7.25 False ENSG00000146918 ENSG00000146918 HGNC:21904 NXN gene NXN Expert list;Expert Review Amber Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 2, 618529 29276006 False 2 0;100;0 7.25 False ENSG00000167693 ENSG00000167693 HGNC:18008 ORC1 gene ORC1 Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690 21358633;21358632;21358631 False 2 0;0;0 7.25 False ENSG00000085840 ENSG00000085840 HGNC:8487 PDE6D gene PDE6D Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22 615665;Polydactyly 24166846 False 2 0;50;50 7.25 False ENSG00000156973 ENSG00000156973 HGNC:8788 POLR1A gene POLR1A Expert list;Expert Review Amber Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis, Cincinnati type, 616462 25913037 False 2 0;100;0 7.25 False ENSG00000068654 ENSG00000068654 HGNC:17264 RAD51C gene RAD51C Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Radial Ray abnormality;Fanconi anemia, complementation group O 613390 20400963;29278735 False 2 33;67;0 7.25 False ENSG00000108384 ENSG00000108384 HGNC:9820 SPINT2 gene SPINT2 Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Diarrhea 3, secretory sodium, congenital, syndromic, 270420;hexadactyly;congenital sodium diarrhea with additional syndromic features 24142340;19185281;17786112 False 2 0;0;0 7.25 False ENSG00000167642 ENSG00000167642 HGNC:11247 STKLD1 gene STKLD1 Expert list;Expert Review Amber Limb disorders Musculoskeletal Unknown False 2 0;100;0 7.25 False ENSG00000198870 ENSG00000198870 HGNC:28669 SUFU gene SUFU Expert list;Expert Review Amber Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 28965847 False 2 0;100;0 7.25 False ENSG00000107882 ENSG00000107882 HGNC:16466 TFAP2A gene TFAP2A Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polydactyly;Branchiooculofacial syndrome, 113620;Clinodactyly;Syndactyly 20358615;19685247 False 2 0;0;0 7.25 False ENSG00000137203 ENSG00000137203 HGNC:11742 THPO gene THPO Expert Review Amber;Literature Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocythemia 1, 187950 19553636;22453305 False 2 0;100;0 7.25 False ENSG00000090534 ENSG00000090534 HGNC:11795 TRAF7 gene TRAF7 Expert list;Expert Review Amber Limb disorders Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac, facial, and digital anomalies with developmental delay, 618164;Developmental Delay, Congenital Anomalies, and Dysmorphic Features 29961569 False 2 0;100;0 7.25 False ENSG00000131653 ENSG00000131653 HGNC:20456 TRAPPC2 gene TRAPPC2 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services Limb disorders Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepiphyseal dysplasia tarda;Spondyloepiphyseal dysplasia tarda, 313400 False 2 0;100;0 7.25 False ENSG00000196459 ENSG00000196459 HGNC:23068 UBE3B gene UBE3B Expert Review Amber;Victorian Clinical Genetics Services Limb disorders Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome 244450;Polydactyly 23200864 False 2 0;100;0 7.25 False ENSG00000151148 ENSG00000151148 HGNC:13478