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 COLEC10 gene COLEC10 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 3 -248340 False 2 0;100;0 0.32 False ENSG00000184374 ENSG00000184374 HGNC:2220 CREB3L1 gene CREB3L1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI 616229 False 2 0;100;0 0.32 False ENSG00000157613 ENSG00000157613 HGNC:18856 DCC gene DCC Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 False 2 0;100;0 0.32 False ENSG00000187323 ENSG00000187323 HGNC:2701 DLX6 gene DLX6 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Split-hand/foot malformation 1 183600 False 2 0;100;0 0.32 False ENSG00000006377 ENSG00000006377 HGNC:2919 FBLIM1 gene FBLIM1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 False 2 0;100;0 0.32 False ENSG00000162458 ENSG00000162458 HGNC:24686 FBLN1 gene FBLN1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 False 2 0;100;0 0.32 False ENSG00000077942 ENSG00000077942 HGNC:3600 FGF9 gene FGF9 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Multiple synostoses syndrome type 3 612961 False 2 0;100;0 0.32 False ENSG00000102678 ENSG00000102678 HGNC:3687 GDF3 gene GDF3 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil anomaly with laryngeal malformation - 613702 False 2 0;100;0 0.32 False ENSG00000184344 ENSG00000184344 HGNC:4218 GPX4 gene GPX4 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type 250220 False 2 0;100;0 0.32 False ENSG00000167468 ENSG00000167468 HGNC:4556 GZF1 gene GZF1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Larsen syndrome False 2 0;100;0 0.32 False ENSG00000125812 ENSG00000125812 HGNC:15808 HDAC4 gene HDAC4 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Albright hereditary osteodystrophy type 3;Brachydactyly-intellectual disability;Albright hereditary osteodystrophy-like syndrome;Del(2)(q37) 600430 False 2 0;100;0 0.32 False ENSG00000068024 ENSG00000068024 HGNC:14063 HNRNPK gene HNRNPK Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 False 2 0;100;0 0.32 False ENSG00000165119 ENSG00000165119 HGNC:5044 HOXA11 gene HOXA11 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 False 2 0;100;0 0.32 False ENSG00000005073 ENSG00000005073 HGNC:5101 HOXA13 gene HOXA13 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 2 100;0;0 0.32 False ENSG00000106031 ENSG00000106031 HGNC:5102 ICK gene ICK Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia 612651 False 2 0;100;0 0.32 False ENSG00000112144 ENSG00000112144 HGNC:21219 IDH1 gene IDH1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875;Maffucci syndrome 614569;Ollier disease/ Dyschondroplasia 166000 False 2 0;100;0 0.32 False ENSG00000138413 ENSG00000138413 HGNC:5382 IFT43 gene IFT43 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly - 617866;?Cranioectodermal dysplasia 3 - 614099 False 2 0;100;0 0.32 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 False 2 0;100;0 0.32 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT81 gene IFT81 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly -617895 False 2 0;100;0 0.32 False ENSG00000122970 ENSG00000122970 HGNC:14313 LFNG gene LFNG Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive 609813 False 2 0;100;0 0.32 False ENSG00000106003 ENSG00000106003 HGNC:6560 LTBP2 gene LTBP2 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani False 2 0;100;0 0.32 False ENSG00000119681 ENSG00000119681 HGNC:6715 NIN gene NIN Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7 614851 False 2 0;100;0 0.32 False ENSG00000100503 ENSG00000100503 HGNC:14906 PGM3 gene PGM3 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 615816 False 2 0;100;0 0.32 False ENSG00000013375 ENSG00000013375 HGNC:8907 PIK3CA gene PIK3CA Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia Mosaicism CLOVES 612918 False 2 0;100;0 0.32 False ENSG00000121879 ENSG00000121879 HGNC:8975 PLEKHM1 gene PLEKHM1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 6 - 611497;Osteopetrosis, autosomal dominant 3 - 618107 False 2 0;100;0 0.32 False ENSG00000225190 ENSG00000225190 HGNC:29017 RBPJ gene RBPJ Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, 614814 False 2 0;100;0 0.32 False ENSG00000168214 ENSG00000168214 HGNC:5724 RIPPLY2 gene RIPPLY2 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 6 - 616566 False 2 0;100;0 0.32 False ENSG00000203877 ENSG00000203877 HGNC:21390 SERPINH1 gene SERPINH1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta, Recessive;OI3;Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;{Preterm premature rupture of the membranes, susceptibility to}, 610504;Osteogenesis imperfecta, type X, 613848 False 2 0;100;0 0.32 False ENSG00000149257 ENSG00000149257 HGNC:1546 SP7 gene SP7 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII 613849 False 2 0;100;0 0.32 False ENSG00000170374 ENSG00000170374 HGNC:17321 TMEM67 gene TMEM67 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Meckel syndrome 3 607361;Joubert syndrome 6 610688;{Bardet-Biedl syndrome 14, modifier of} 615991 False 2 0;100;0 0.32 False ENSG00000164953 ENSG00000164953 HGNC:28396 UFSP2 gene UFSP2 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 False 2 0;100;0 0.32 False ENSG00000109775 ENSG00000109775 HGNC:25640 WDR19 gene WDR19 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 4, 614378;Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 False 2 0;100;0 0.32 False ENSG00000157796 ENSG00000157796 HGNC:18340 WNT3 gene WNT3 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 273395 False 2 0;100;0 0.32 False ENSG00000108379 ENSG00000108379 HGNC:12782 XYLT2 gene XYLT2 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 605822 False 2 0;100;0 0.32 False ENSG00000015532 ENSG00000015532 HGNC:15517 ZIC1 gene ZIC1 Expert Review Amber;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 6 616602 False 2 0;100;0 0.32 False ENSG00000152977 ENSG00000152977 HGNC:12872