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 ACVR2B gene ACVR2B Emory Genetics Laboratory;Expert Review Red Skeletal dysplasia Musculoskeletal Unknown "Heterotaxy, visceral, 4, autosomal 613751" False 1 0;0;0 8.46 False ENSG00000114739 ENSG00000114739 HGNC:174 ADGRV1 gene ADGRV1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADI1 gene ADI1 Skeletal dysplasia Musculoskeletal Unknown No OMIM or G2P phenotype False 1 0;0;0 8.46 False ENSG00000182551 ENSG00000182551 HGNC:30576 AHI1 gene AHI1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIPL1 gene AIPL1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000129221 ENSG00000129221 HGNC:359 AKT1 gene AKT1 Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Unknown Proteus syndrome, somatic 176920;Cowden syndrome 6 615109 False 1 67;33;0 8.46 False ENSG00000142208 ENSG00000142208 HGNC:391 ARID1A gene ARID1A Skeletal dysplasia Musculoskeletal Coffin-Siris False 1 0;0;0 8.46 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Coffin-Siris syndrome type 1 - 135900;Coffin-Siris False 1 50;50;0 8.46 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARL13B gene ARL13B Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000169379 ENSG00000169379 HGNC:25419 ATXN10 gene ATXN10 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;0;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130638 ENSG00000130638 HGNC:10549 B9D2 gene B9D2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 False 1 100;0;0 8.46 False ENSG00000123810 ENSG00000123810 HGNC:28636 BANF1 gene BANF1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Nestor-Guillermo progeria syndrome 614008" False 1 100;0;0 8.46 False ENSG00000175334 ENSG00000175334 HGNC:17397 C2orf71 gene C2orf71 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000179270 ENSG00000179270 HGNC:34383 C5orf42 gene C5orf42 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000197603 ENSG00000197603 HGNC:25801 CCDC28B gene CCDC28B Emory Genetics Laboratory;Expert Review Red Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal {Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;0;0 8.46 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC39 gene CCDC39 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000141519 ENSG00000141519 HGNC:26090 CD96 gene CD96 NHS GMS Skeletal dysplasia Musculoskeletal C-syndrome 217750 (opitz trigonocephaly) False 1 0;50;50 8.46 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDC6 gene CDC6 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5, OMIM:613805 False 1 100;0;0 8.46 False ENSG00000094804 ENSG00000094804 HGNC:1744 CDH23 gene CDH23 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000107736 ENSG00000107736 HGNC:13733 CEP164 gene CEP164 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP41 gene CEP41 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFTR gene CFTR Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000001626 ENSG00000001626 HGNC:1884 CKAP2L gene CKAP2L Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Syndactyly with microcephaly and MR (Filippi syndrome) 272440 False 1 50;50;0 8.46 False ENSG00000169607 ENSG00000169607 HGNC:26877 CLRN1 gene CLRN1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000163646 ENSG00000163646 HGNC:12605 COL12A1 gene COL12A1 Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) False 1 0;0;0 8.46 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL5A1 gene COL5A1 Expert Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000130635 ENSG00000130635 HGNC:2209 COLEC10 gene COLEC10 NHS GMS Skeletal dysplasia Musculoskeletal 3MC syndrome 3 -248340 28301481 False 1 0;100;0 8.46 False ENSG00000184374 ENSG00000184374 HGNC:2220 CRB1 gene CRB1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRELD1 gene CRELD1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000163703 ENSG00000163703 HGNC:14630 CRX gene CRX Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000105392 ENSG00000105392 HGNC:2383 CYP26B1 gene CYP26B1 Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 False 1 0;0;0 8.46 False ENSG00000003137 ENSG00000003137 HGNC:20581 DACT1 gene DACT1 Literature;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 8.46 False ENSG00000165617 ENSG00000165617 HGNC:17748 DLX6 gene DLX6 Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Unknown Split-hand/foot malformation 1 183600;Split-hand/foot malformation 1 with sensorineural hearing loss 220600 28611547 False 1 33;67;0 8.46 False ENSG00000006377 ENSG00000006377 HGNC:2919 DNAAF1 gene DNAAF1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAH11 gene DNAH11 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAL1 gene DNAL1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000119661 ENSG00000119661 HGNC:23247 DOLPP1 gene DOLPP1 Expert Review Red Skeletal dysplasia Musculoskeletal Unknown Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features) False 1 100;0;0 8.46 False ENSG00000167130 ENSG00000167130 HGNC:29565 DPM2 gene DPM2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Iu 615042" False 1 100;0;0 8.46 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal Unknown Congenital disorder of glycosylation, type Io 612937 False 1 100;0;0 8.46 False ENSG00000179085 ENSG00000179085 HGNC:3007 DSPP gene DSPP Expert Review Red;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentinogenesis imperfecta, Shields type II, 125490; Deafness, autosomal dominant 36, with dentinogenesis, 605594; Dentinogenesis imperfecta, Shields type III, 125500; Dentin dysplasia, type II, 125420 -3 29512331;27973701 False 1 0;0;100 8.46 False ENSG00000152591 ENSG00000152591 HGNC:3054 EP300 gene EP300 Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Rubinstein-Taybi syndrome 180849;Rubinstein Taybi syndrome False 1 50;50;0 8.46 False ENSG00000100393 ENSG00000100393 HGNC:3373 ESR1 gene ESR1 Expert;Expert Review Red Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000091831 ENSG00000091831 HGNC:3467 ETF1 gene ETF1 Expert Review Red Skeletal dysplasia Musculoskeletal Unknown 19631775 False 1 100;0;0 8.46 False ENSG00000120705 ENSG00000120705 HGNC:3477 FBLIM1 gene FBLIM1 NHS GMS Skeletal dysplasia Musculoskeletal Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 29912021 False 1 0;100;0 8.46 False ENSG00000162458 ENSG00000162458 HGNC:24686 FGF8 gene FGF8 Expert Review Red Skeletal dysplasia Musculoskeletal Unknown Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel. 24569166 False 1 100;0;0 8.46 False ENSG00000107831 ENSG00000107831 HGNC:3686 FMN1 gene FMN1 Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN Skeletal dysplasia Musculoskeletal Unknown Animal models with skeletal dysplastic phenotypes False 1 100;0;0 8.46 False ENSG00000248905 ENSG00000248905 HGNC:3768 FOXC1 gene FOXC1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 27193493;32720677 False 1 100;0;0 8.46 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXH1 gene FOXH1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000160973 ENSG00000160973 HGNC:3814 GDF1 gene GDF1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000130283 ENSG00000130283 HGNC:4214 GDF3 gene GDF3 NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil anomaly with laryngeal malformation - 613702 19864492;29260090 False 1 0;100;0 8.46 False ENSG00000184344 ENSG00000184344 HGNC:4218 GLIS2 gene GLIS2 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000126603 ENSG00000126603 HGNC:29450 GREM1 gene GREM1 Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN Skeletal dysplasia Musculoskeletal Unknown 22561515;19229034 False 1 50;0;50 8.46 False ENSG00000166923 ENSG00000166923 HGNC:2001 GUCY2D gene GUCY2D Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000132518 ENSG00000132518 HGNC:4689 HDAC5 gene HDAC5 Expert list;Expert Review Red Skeletal dysplasia Musculoskeletal Unknown osteoporosis 26723575 False 1 100;0;0 8.46 False ENSG00000108840 ENSG00000108840 HGNC:14068 HOXA11 gene HOXA11 Expert list;Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 11101832 False 1 33;67;0 8.46 False ENSG00000005073 ENSG00000005073 HGNC:5101 HOXD11 gene HOXD11 NHS GMS Skeletal dysplasia Musculoskeletal Fleischman 2013 Blood 122:4837 http://www.bloodjournal.org/content/122/21/4837 (not in PubMed) False 1 0;100;0 8.46 False ENSG00000128713 ENSG00000128713 HGNC:5134 HYLS1 gene HYLS1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000198331 ENSG00000198331 HGNC:26558 IDH2 gene IDH2 Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Other D-2-hydroxyglutaric aciduria 2, OMIM:613657;d-2-hydroxyglutaric aciduria 2, MONDO:0013345 24049096;22057234;22057236;36042521 False 1 60;40;0 8.46 False ENSG00000182054 ENSG00000182054 HGNC:5383 IFT88 gene IFT88 Expert list;Expert Review Red;UKGTN Skeletal dysplasia Musculoskeletal Unknown 23034798 False 1 100;0;0 8.46 False ENSG00000032742 ENSG00000032742 HGNC:20606 IMPDH1 gene IMPDH1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000106348 ENSG00000106348 HGNC:6052 INVS gene INVS Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000173226 ENSG00000173226 HGNC:28949 KCNJ13 gene KCNJ13 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000115474 ENSG00000115474 HGNC:6259 KIAA1217 gene KIAA1217 Expert Review Red;Literature Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal vertebral malformations 32369272 False 1 0;50;50 8.46 False ENSG00000120549 ENSG00000120549 HGNC:25428 LCA5 gene LCA5 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000135338 ENSG00000135338 HGNC:31923 LEFTY2 gene LEFTY2 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000143768 ENSG00000143768 HGNC:3122 LOXL3 gene LOXL3 Expert Review;Expert Review Red Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Stickler syndrome 25663169 False 1 0;0;0 8.46 False ENSG00000115318 ENSG00000115318 HGNC:13869 LRAT gene LRAT Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRP6 gene LRP6 Expert Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000070018 ENSG00000070018 HGNC:6698 LTBP2 gene LTBP2 NHS GMS Skeletal dysplasia Musculoskeletal Weill-Marchesani 22539340 False 1 0;100;0 8.46 False ENSG00000119681 ENSG00000119681 HGNC:6715 MAN2C1 gene MAN2C1 Expert list;Expert Review Red Skeletal dysplasia Musculoskeletal Unknown alpha-Mannosidosis 6220608 False 1 100;0;0 8.46 False ENSG00000140400 ENSG00000140400 HGNC:6827 MCM5 gene MCM5 Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "?Meier-Gorlin syndrome 8 617564" 28198391 False 1 0;0;100 8.46 False ENSG00000100297 ENSG00000100297 HGNC:6948 MMP14 gene MMP14 Expert Review Red Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Winchester syndrome 277950 22922033 False 1 100;0;0 8.46 False ENSG00000157227 ENSG00000157227 HGNC:7160 MTAP gene MTAP Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 False 1 100;0;0 8.46 False ENSG00000099810 ENSG00000099810 HGNC:7413 MYO1H gene MYO1H Expert Review Red;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 8.46 False ENSG00000174527 ENSG00000174527 HGNC:13879 MYO7A gene MYO7A Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000137474 ENSG00000137474 HGNC:7606 NEK8 gene NEK8 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000160602 ENSG00000160602 HGNC:13387 NIN gene NIN Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7 614851 22933543;23665482 False 1 25;50;25 8.46 False ENSG00000100503 ENSG00000100503 HGNC:14906 NKX2-5 gene NKX2-5 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000183072 ENSG00000183072 HGNC:2488 NME8 gene NME8 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000086288 ENSG00000086288 HGNC:16473 NODAL gene NODAL Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000156574 ENSG00000156574 HGNC:7865 NPHP1 gene NPHP1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7 267010 False 1 100;0;0 8.46 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPPC gene NPPC Expert list;Expert Review Red Skeletal dysplasia Musculoskeletal Unknown Overgrowth syndrome with 2q37 translocations 11259675 False 1 100;0;0 8.46 False ENSG00000163273 ENSG00000163273 HGNC:7941 OAT gene OAT Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal Gyrate atrophy of choroid and retina with or without ornithinemia 258870 False 1 50;50;0 8.46 False ENSG00000065154 ENSG00000065154 HGNC:8091 PCDH15 gene PCDH15 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000150275 ENSG00000150275 HGNC:14674 PHF6 gene PHF6 Skeletal dysplasia Musculoskeletal Coffin-Siris syndrome False 1 0;0;0 8.46 False ENSG00000156531 ENSG00000156531 HGNC:18145 PIK3CA gene PIK3CA NHS GMS Skeletal dysplasia Musculoskeletal CLOVES 612918 False 1 0;100;0 8.46 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIN1 gene PIN1 Expert list;Expert Review Red Skeletal dysplasia Musculoskeletal Unknown No phenotype associated with this gene 24569166 False 1 100;0;0 8.46 False ENSG00000127445 ENSG00000127445 HGNC:8988 PIR gene PIR Expert Review Red Skeletal dysplasia Musculoskeletal Unknown Osteoporosis 16183656;19766747 False 1 0;0;0 8.46 False ENSG00000087842 ENSG00000087842 HGNC:30048 PKD2 gene PKD2 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLCB3 gene PLCB3 Expert Review Red;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961;spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030074 29122926 False 1 0;0;100 8.46 False ENSG00000149782 ENSG00000149782 HGNC:9056 PLK4 gene PLK4 Skeletal dysplasia Musculoskeletal Microcephalic primordial dwarfism False 1 0;0;0 8.46 False ENSG00000142731 ENSG00000142731 HGNC:11397 PLOD1 gene PLOD1 Expert Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000083444 ENSG00000083444 HGNC:9081 PTPRQ gene PTPRQ Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;0 8.46 False ENSG00000139304 ENSG00000139304 HGNC:9679 RAB3GAP2 gene RAB3GAP2 Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720 False 1 0;0;0 8.46 False ENSG00000118873 ENSG00000118873 HGNC:17168 RD3 gene RD3 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000139988 ENSG00000139988 HGNC:19977 RPE65 gene RPE65 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000092200 ENSG00000092200 HGNC:13436 RSPH4A gene RSPH4A Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000172426 ENSG00000172426 HGNC:21057 SCNN1A gene SCNN1A Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000166828 ENSG00000166828 HGNC:10602 SDCCAG8 gene SDCCAG8 Emory Genetics Laboratory;Expert Review Red Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, 615993 False 1 0;0;0 8.46 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEM1 gene SEM1 Expert Review Red Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHFM1 False 1 100;0;0 8.46 False ENSG00000127922 ENSG00000127922 HGNC:10845 SHH gene SHH Expert Review Red Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Preaxial polydactyly type 1 (PPD1) 25782671 False 1 100;0;0 8.46 False ENSG00000164690 ENSG00000164690 HGNC:10848 SLCO5A1 gene SLCO5A1 Expert list;Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mesomelia-synostoses syndrome 600383;Mesomelia-synostoses syndrome 600383" 20602915 False 1 33;33;33 8.46 False ENSG00000137571 ENSG00000137571 HGNC:19046 SMARCA2 gene SMARCA2 Skeletal dysplasia Musculoskeletal Coffin Siris syndrome False 1 0;0;0 8.46 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 Skeletal dysplasia Musculoskeletal Coffin Siris syndrome False 1 0;0;0 8.46 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Skeletal dysplasia Musculoskeletal Coffin Siris syndrome False 1 0;0;0 8.46 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 5, OMIM:616938 False 1 0;0;0 8.46 False ENSG00000073584 ENSG00000073584 HGNC:11109 SOX11 gene SOX11 Skeletal dysplasia Musculoskeletal Coffin-Siris syndrome False 1 0;0;0 8.46 False ENSG00000176887 ENSG00000176887 HGNC:11191 SPATA7 gene SPATA7 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000042317 ENSG00000042317 HGNC:20423 SPECC1L gene SPECC1L Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal Other - please specifiy in evaluation comments Facial clefting, oblique, 1 600251;Opitz GBBB syndrome, type II 145410;Teebi hyperterorism like syndrome 145420 26111080 False 1 100;0;0 8.46 False ENSG00000100014 ENSG00000100014 HGNC:29022 SULF1 gene SULF1 Emory Genetics Laboratory;Expert list;Expert Review Red;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mesomelia-synostoses syndrome 600383;Mesomelia-synostoses syndrome 600383" 20602915 False 1 33;33;33 8.46 False ENSG00000137573 ENSG00000137573 HGNC:20391 TCTN1 gene TCTN1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000204852 ENSG00000204852 HGNC:26113 TDP2 gene TDP2 Expert Review Red;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal Dentinogenesis imperfecta, Shields type II, 125490 False 1 0;0;0 8.46 False ENSG00000111802 ENSG00000111802 HGNC:17768 TGDS gene TGDS Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome 616145 25480037 False 1 50;50;0 8.46 False ENSG00000088451 ENSG00000088451 HGNC:20324 THPO gene THPO Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocythemia 1 187950 (rare presentation with congenital limb defects) 19553636;22453305 False 1 33;33;33 8.46 False Other - please provide details in the comments ENSG00000090534 ENSG00000090534 HGNC:11795 TMEM138 gene TMEM138 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM237 gene TMEM237 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Meckel syndrome 3 607361;Joubert syndrome 6 610688;{Bardet-Biedl syndrome 14, modifier of} 615991 False 1 33;67;0 8.46 False ENSG00000164953 ENSG00000164953 HGNC:28396 TNXB gene TNXB Expert Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000168477 ENSG00000168477 HGNC:11976 TOPORS gene TOPORS Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000197579 ENSG00000197579 HGNC:21653 TP53 gene TP53 Expert Review Red;Literature Skeletal dysplasia Musculoskeletal Other Central conventional chondrosrcoma 33147331 False 1 50;0;50 8.46 False ENSG00000141510 ENSG00000141510 HGNC:11998 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert Review Red Skeletal dysplasia Musculoskeletal Bardet-Biedl syndrome 11, 615988;Polydactyly False 1 0;0;0 8.46 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRMT10A gene TRMT10A Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal Microcephaly, short stature and impaired glucose metabolism, 616033 False 1 0;0;0 8.46 False ENSG00000145331 ENSG00000145331 HGNC:28403 TSC1 gene TSC1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000103197 ENSG00000103197 HGNC:12363 TULP1 gene TULP1 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000112041 ENSG00000112041 HGNC:12423 UMOD gene UMOD Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000169344 ENSG00000169344 HGNC:12559 USH1C gene USH1C Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000042781 ENSG00000042781 HGNC:12601 USP9X gene USP9X Skeletal dysplasia Musculoskeletal New syndrom with skd False 1 0;0;0 8.46 False ENSG00000124486 ENSG00000124486 HGNC:12632 VAC14 gene VAC14 Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies) 28635952 False 1 0;0;0 8.46 False ENSG00000103043 ENSG00000103043 HGNC:25507 VHL gene VHL Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000134086 ENSG00000134086 HGNC:12687 WHRN gene WHRN Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000095397 ENSG00000095397 HGNC:16361 WNT3 gene WNT3 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Tetra-amelia syndrome 273395 14872406 False 1 33;67;0 8.46 False ENSG00000108379 ENSG00000108379 HGNC:12782 WRN gene WRN Expert Review Red;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Werner syndrome -277700 False 1 50;50;0 8.46 False ENSG00000165392 ENSG00000165392 HGNC:12791 XPNPEP3 gene XPNPEP3 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000196236 ENSG00000196236 HGNC:28052 ZBTB16 gene ZBTB16 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Skeletal defects, genital hypoplasia, and mental retardation 612447 False 1 100;0;0 8.46 False ENSG00000109906 ENSG00000109906 HGNC:12930 ZIC3 gene ZIC3 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZNF423 gene ZNF423 Emory Genetics Laboratory Skeletal dysplasia Musculoskeletal False 1 0;0;0 8.46 False ENSG00000102935 ENSG00000102935 HGNC:16762 ATXN10_ATTCT str ATXN10 Expert Review Red;NHS GMS;Expert list Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516;spinocerebellar ataxia type 10, MONDO:0011330 12164725;35441258;36199580;40067487 False 1 0;0;100 8.46 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 XYLT1_GCC str XYLT1 Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 22711505;30554721 False 1 100;0;0 8.46 False ENSG00000103489 ENSG00000103489 HGNC:15516 16 17470907 17470922 GCC 20 110