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 ABCC9 gene ABCC9 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) False 3 100;0;0 0.32 False ENSG00000069431 ENSG00000069431 HGNC:60 ABL1 gene ABL1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations syndrome, 617602 False 3 100;0;0 0.32 False ENSG00000097007 ENSG00000097007 HGNC:76 ACAN gene ACAN Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800;Spondyloepimetaphyseal dysplasia, aggrecan type 61283;Spondyloepiphyseal dysplasia, Kimberley type 608361 False 3 100;0;0 0.32 False ENSG00000157766 ENSG00000157766 HGNC:319 ACP5 gene ACP5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation 607944 False 3 100;0;0 0.32 False ENSG00000102575 ENSG00000102575 HGNC:124 ACVR1 gene ACVR1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva 135100 False 3 100;0;0 0.32 False ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS10 gene ADAMTS10 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome type 1 False 3 100;0;0 0.32 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome type 4 False 3 100;0;0 0.32 False ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTSL2 gene ADAMTSL2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1 231050 False 3 100;0;0 0.32 False ENSG00000197859 ENSG00000197859 HGNC:14631 AGA gene AGA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) False 3 100;0;0 0.32 False ENSG00000038002 ENSG00000038002 HGNC:318 AGPS gene AGPS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 600121 False 3 100;0;0 0.32 False ENSG00000018510 ENSG00000018510 HGNC:327 AKT1 gene AKT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia Unknown Proteus syndrome, somatic 176920;Cowden syndrome 6 615109 False 3 100;0;0 0.32 False ENSG00000142208 ENSG00000142208 HGNC:391 ALG12 gene ALG12 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 3 100;0;0 0.32 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG3 gene ALG3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 False 3 100;0;0 0.32 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG9 gene ALG9 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Gillessen-Kaesbach-Nishimura syndrome 263210;Congenital disorder of glycosylation, type Il 608776 False 3 100;0;0 0.32 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALPL gene ALPL Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal hypophosphatasia;skeletal dysplasias;Osteogenesis Imperfecta and Decreased Bone Density False 3 100;0;0 0.32 False ENSG00000162551 ENSG00000162551 HGNC:438 ALX3 gene ALX3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1 136760 (frontorhiny) False 3 100;0;0 0.32 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Frontonasal dysplasia 2 613451 False 3 100;0;0 0.32 False ENSG00000052850 ENSG00000052850 HGNC:450 AMER1 gene AMER1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Osteopathia striata with cranial sclerosis 300373 False 3 100;0;0 0.32 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANKH gene ANKH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrocalcinosis 2 118600;Craniometaphyseal dysplasia 123000 False 3 100;0;0 0.32 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD11 gene ANKRD11 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome 148050 False 3 100;0;0 0.32 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO5 gene ANO5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Gnatodiaphyseal dysplasia;Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;Disproportionate Short Stature False 3 100;0;0 0.32 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANTXR2 gene ANTXR2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome 228600 False 3 100;0;0 0.32 False ENSG00000163297 ENSG00000163297 HGNC:21732 ARHGAP31 gene ARHGAP31 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1 100300 False 3 100;0;0 0.32 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1B gene ARID1B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome type 1 - 135900 False 3 100;0;0 0.32 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARSB gene ARSB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 False 3 100;0;0 0.32 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, biallelic mutations in females CDPXL;Chondrodysplasia punctata, X-linked recessive, 302950;CHONDRODYSPLASIA PUNCTATA 1, X-LINKED;X-linked recessive chondrodysplasia punctata False 3 100;0;0 0.32 False ENSG00000157399 ENSG00000157399 HGNC:719 ASXL2 gene ASXL2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shashi-Pena syndrome 617190 False 3 100;0;0 0.32 False ENSG00000143970 ENSG00000143970 HGNC:23805 ATP6V0A2 gene ATP6V0A2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA 219200 False 3 100;0;0 0.32 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, 300489;Menkes disease 309400;Occipital horn syndrome 304150 False 3 100;0;0 0.32 False ENSG00000165240 ENSG00000165240 HGNC:869 B3GALT6 gene B3GALT6 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, progeroid type, 2 615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 False 3 100;0;0 0.32 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600;Larsen alike phenotype (skd incl) False 3 100;0;0 0.32 False ENSG00000149541 ENSG00000149541 HGNC:923 B4GALT7 gene B4GALT7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070 False 3 100;0;0 0.32 False ENSG00000027847 ENSG00000027847 HGNC:930 BHLHA9 gene BHLHA9 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 False 3 100;0;0 0.32 False ENSG00000205899 ENSG00000205899 HGNC:35126 BMP1 gene BMP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII, 614856 False 3 100;0;0 0.32 False ENSG00000168487 ENSG00000168487 HGNC:1067 BMP2 gene BMP2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.;Brachydactyly, type A2 112600;{HFE hemochromatosis, modifier of} 235200 False 3 100;0;0 0.32 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMPER gene BMPER Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis 608022 False 3 100;0;0 0.32 False ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type A1, D 616849;Brachydactyly, type A2 112600;Acromesomelic dysplasia, Demirhan type 609441 False 3 100;0;0 0.32 False ENSG00000138696 ENSG00000138696 HGNC:1077 C21orf2 gene C21orf2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial 602271 False 3 100;0;0 0.32 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV 615948 False 3 100;0;0 0.32 False ENSG00000168014 ENSG00000168014 HGNC:24564 CA2 gene CA2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 False 3 100;0;0 0.32 False ENSG00000104267 ENSG00000104267 HGNC:1373 CANT1 gene CANT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1 251450;multiple epiphyseal dysplasia type 7, 617719. False 3 100;0;0 0.32 False ENSG00000171302 ENSG00000171302 HGNC:19721 CASR gene CASR Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalcemia, autosomal dominant 601198;Hypocalciuric hypercalcemia, type I 145980;Hyperparathyroidism, neonatal 239200;Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 False 3 100;0;0 0.32 False ENSG00000036828 ENSG00000036828 HGNC:1514 CC2D2A gene CC2D2A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6 612284 False 3 100;0;0 0.32 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC8 gene CCDC8 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, 614205 False 3 100;0;0 0.32 False ENSG00000169515 ENSG00000169515 HGNC:25367 CDC45 gene CDC45 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770);Craniosynostosis (Wilkie) (from Ana Beleza) 27374770 False 3 100;0;0 0.32 False ENSG00000093009 ENSG00000093009 HGNC:1739 CDH3 gene CDH3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 False 3 100;0;0 0.32 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDKN1C gene CDKN1C Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted IMAGE syndrome 614732 False 3 100;0;0 0.32 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDT1 gene CDT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4 613804 False 3 100;0;0 0.32 False ENSG00000167513 ENSG00000167513 HGNC:24576 CEP120 gene CEP120 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 213300;Short-rib thoracic dysplasia 13 with or without polydactyly 616300 False 3 100;0;0 0.32 False ENSG00000168944 ENSG00000168944 HGNC:26690 CEP290 gene CEP290 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 4 611134;Senior-Loken syndrome 6 610189;Joubert syndrome 5 610188;Bardet-Biedl syndrome 14 615991;Leber congenital amaurosis 10 False 3 100;0;0 0.32 False ENSG00000198707 ENSG00000198707 HGNC:29021 CHST14 gene CHST14 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776 False 3 100;0;0 0.32 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 False 3 100;0;0 0.32 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282 False 3 100;0;0 0.32 False ENSG00000131873 ENSG00000131873 HGNC:17198 CKAP2L gene CKAP2L Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Syndactyly with microcephaly and MR (Filippi syndrome) 272440 False 3 100;0;0 0.32 False ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN5 gene CLCN5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, biallelic mutations in females Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990;Dent disease 300009;Nephrolithiasis, type I 310468;Hypophosphatemic rickets 300554 False 3 100;0;0 0.32 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4 611490;Osteopetrosis, autosomal dominant 2 166600 False 3 100;0;0 0.32 False ENSG00000103249 ENSG00000103249 HGNC:2025 COG1 gene COG1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg 611209 False 3 100;0;0 0.32 False ENSG00000166685 ENSG00000166685 HGNC:6545 COL10A1 gene COL10A1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondrodysplasia, Schmid type 156500 False 3 100;0;0 0.32 False ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type II 604841;Marshall syndrome 154780;Fibrochondrogenesis 1 228520 False 3 100;0;0 0.32 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type III 184840;Otospondylomegaepiphyseal dysplasia 215150;Fibrochondrogenesis 2 614524? False 3 100;0;0 0.32 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL1A1 gene COL1A1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteogenesis imperfecta, type I 166200;Caffey disease 114000;Osteogenesis imperfecta, type III 259420;Osteogenesis imperfecta, type II 166210;Ehlers-Danlos syndrome, type VIIA 130060;Ehlers-Danlos syndrome, classic 130000;Osteogenesis imperfecta, type IV 166220 False 3 100;0;0 0.32 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal OR MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (if exclude 255320) Ehlers-Danlos syndrome, cardiac valvular form 225320;Ehlers-Danlos syndrome, type VIIB 130060;Osteogenesis imperfecta, type II 166210;Osteogenesis imperfecta, type III 259420;Osteogenesis imperfecta, type IV 166220 False 3 100;0;0 0.32 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epiphyseal dysplasia, multiple, with myopia and deafness 132450;Spondyloepiphyseal dysplasia, Stanescu type 616583;Stickler sydrome, type I, nonsyndromic ocular 609508;Achondrogenesis, type II or hypochondrogenesis 200610;Kniest dysplasia 156550;Legg-Calve-Perthes disease 150600;Otospondylomegaepiphyseal dysplasia 215150;Stickler syndrome, type I 108300;SMED Strudwick type 184250;Spondyloperipheral dysplasia 271700;Platyspondylic skeletal dysplasia, Torrance type 151210;Czech dysplasia 609162;SED congenita 183900;Osteoarthritis with mild chondrodysplasia 604864;Avascular necrosis of the femoral head 608805 False 3 100;0;0 0.32 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type IV 614134;Epiphyseal dysplasia, multiple, 6 614135 False 3 100;0;0 0.32 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epiphyseal dysplasia, multiple, 2 600204;Stickler syndrome, type V 614284;Stickler syndrome, type V, 614284;{Intervertebral disc disease, susceptibility to}, 603932 False 3 100;0;0 0.32 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MED;multiple epiphyseal dysplasia 3, with or without myopathy - 600969 False 3 100;0;0 0.32 False ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC11 gene COLEC11 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2 265050 False 3 100;0;0 0.32 False ENSG00000118004 ENSG00000118004 HGNC:17213 COMP gene COMP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, 1 132400;Pseudoachondroplasia 177170 False 3 100;0;0 0.32 False ENSG00000105664 ENSG00000105664 HGNC:2227 CREBBP gene CREBBP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 180849 False 3 100;0;0 0.32 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRTAP gene CRTAP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII 610682 False 3 100;0;0 0.32 False ENSG00000170275 ENSG00000170275 HGNC:2379 CSPP1 gene CSPP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy;ORPHA:475 Joubert syndrome;ORPHA:564 Meckel syndrome;Joubert syndrome 21 615636 False 3 100;0;0 0.32 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTSA gene CTSA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 256540 False 3 100;0;0 0.32 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome 245010, False 3 100;0;0 0.32 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSK gene CTSK Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 265800 False 3 100;0;0 0.32 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUL7 gene CUL7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1 273750 False 3 100;0;0 0.32 False ENSG00000044090 ENSG00000044090 HGNC:21024 CYP27B1 gene CYP27B1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I 264700 False 3 100;0;0 0.32 False ENSG00000111012 ENSG00000111012 HGNC:2606 DDR2 gene DDR2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported False 3 100;0;0 0.32 False ENSG00000162733 ENSG00000162733 HGNC:2731 DHCR24 gene DHCR24 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Desmosterolosis 602398 False 3 100;0;0 0.32 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHODH gene DHODH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Miller syndrome (postaxial acrofacial dysostosis) 263750 False 3 100;0;0 0.32 False ENSG00000102967 ENSG00000102967 HGNC:2867 DIS3L2 gene DIS3L2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Perlman syndrome 267000 False 3 100;0;0 0.32 False ENSG00000144535 ENSG00000144535 HGNC:28648 DLL3 gene DLL3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive 277300 False 3 100;0;0 0.32 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 6, 616589 False 3 100;0;0 0.32 False ENSG00000128917 ENSG00000128917 HGNC:2910 DLX3 gene DLX3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IV 104510;Trichodontoosseous syndrome 190320 False 3 100;0;0 0.32 False ENSG00000064195 ENSG00000064195 HGNC:2916 DLX5 gene DLX5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 1 with sensorineural hearing loss 220600 False 3 100;0;0 0.32 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMP1 gene DMP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, AR, 241520 False 3 100;0;0 0.32 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNMT3A gene DNMT3A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tatton-Brown-Rahman syndrome 615879 False 3 100;0;0 0.32 False ENSG00000119772 ENSG00000119772 HGNC:2978 DOCK6 gene DOCK6 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2 614219 False 3 100;0;0 0.32 False ENSG00000130158 ENSG00000130158 HGNC:19189 DPM1 gene DPM1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie 608799 False 3 100;0;0 0.32 False ENSG00000000419 ENSG00000000419 HGNC:3005 DVL1 gene DVL1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 2 616331 False 3 100;0;0 0.32 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 False 3 100;0;0 0.32 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease 223800;Smith-McCort dysplasia 607326 False 3 100;0;0 0.32 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 False 3 100;0;0 0.32 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY;SRTD15 #617088 False 3 100;0;0 0.32 False ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MEND syndrome-300960 XLR.;CDPXLD;Chondrodysplasia punctata, X-linked dominant, 302960 False 3 100;0;0 0.32 False ENSG00000147155 ENSG00000147155 HGNC:3133 EED gene EED Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cohen-Gibson syndrome 617561 False 3 100;0;0 0.32 False ENSG00000074266 ENSG00000074266 HGNC:3188 EFNB1 gene EFNB1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males is generally not pathogenic, monoallelic mutations in females may cause disease, as do mosaic mutations in males Craniofrontonasal dysplasia 304110 False 3 100;0;0 0.32 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type 610536 False 3 100;0;0 0.32 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF2AK3 gene EIF2AK3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome 226980 False 3 100;0;0 0.32 False ENSG00000172071 ENSG00000172071 HGNC:3255 ENPP1 gene ENPP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatemic rickets, autosomal recessive, 2 613312;Cole disease 615522 False 3 100;0;0 0.32 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Adams Oliver syndrome 4 False 3 100;0;0 0.32 False ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 180849 False 3 100;0;0 0.32 False ENSG00000100393 ENSG00000100393 HGNC:3373 ERF gene ERF Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chitayat syndrome - 617180;Craniosynostosis 4 600775 False 3 100;0;0 0.32 False ENSG00000105722 ENSG00000105722 HGNC:3444 ESCO2 gene ESCO2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal SC phocomelia syndrome 269000;Roberts syndrome 268300 False 3 100;0;0 0.32 False ENSG00000171320 ENSG00000171320 HGNC:27230 EVC gene EVC Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal ECV1;Ellis-van Creveld syndrome, 225500 False 3 100;0;0 0.32 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome 225500;Weyers acrofacial dysostosis 193530 False 3 100;0;0 0.32 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXT1 gene EXT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted trichorhinophalangeal syndrome type 2 -150230;Exostoses, multiple, type 13370 False 3 100;0;0 0.32 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2 133701 False 3 100;0;0 0.32 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 False 3 100;0;0 0.32 False ENSG00000012232 ENSG00000012232 HGNC:3518 EZH2 gene EZH2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome False 3 100;0;0 0.32 False ENSG00000106462 ENSG00000106462 HGNC:3527 FAM111A gene FAM111A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gracile bone dysplasia 602361;Kenny-Caffey syndrome, type 2 127000 False 3 100;0;0 0.32 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20C gene FAM20C Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Raine syndrome 259775 False 3 100;0;0 0.32 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM58A gene FAM58A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia 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 0.32 False ENSG00000147382 ENSG00000262919 HGNC:28434 FBN1 gene FBN1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Geleophysic dysplasia 2 614185;Stiff skin syndrome 184900;Marfan syndrome 154700;Acromicric dysplasia 102370;Weill-Marchesani syndrome 2, dominant 608328 False 3 100;0;0 0.32 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Contractural arachnodactyly, congenital 121050 False 3 100;0;0 0.32 False ENSG00000138829 ENSG00000138829 HGNC:3604 FERMT3 gene FERMT3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III 612840 False 3 100;0;0 0.32 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGF10 gene FGF10 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Multiple synostoses syndrome type 3 612961 False 3 100;0;0 0.32 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF16 gene FGF16 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome 149730 False 3 100;0;0 0.32 False ENSG00000196468 ENSG00000196468 HGNC:3672 FGF23 gene FGF23 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, biallelic mutations in females Metacarpal 4-5 fusion 309630 False 3 100;0;0 0.32 False ENSG00000118972 ENSG00000118972 HGNC:3680 FGFR1 gene FGFR1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteoglophonic dysplasia 166250;Hartsfield syndrome 615465;Jackson-Weiss syndrome 123150;Pfeiffer syndrome 101600;Trigonocephaly 1 190440 False 3 100;0;0 0.32 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beare-Stevenson cutis gyrata syndrome 123790;Craniosynostosis, nonspecific Crouzon syndrome 123500;Craniofacial-skeletal-dermatologic dysplasia 101600;Pfeiffer syndrome 101600;Gastric cancer, somatic 613659;Jackson-Weiss syndrome 123150;LADD syndrome 149730;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Apert syndrome 101200;Bent bone dysplasia syndrome 614592 False 3 100;0;0 0.32 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thanatophoric dysplasia, type I 187600;Muenke syndrome 602849;CATSHL syndrome 610474;SADDAN 616482;Thanatophoric dysplasia, type II 187601;Achondroplasia 100800;LADD syndrome 149730;Hypochondroplasia 146000;Crouzon syndrome with acanthosis nigricans 612247 False 3 100;0;0 0.32 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome 216340 False 3 100;0;0 0.32 False ENSG00000112367 ENSG00000112367 HGNC:16873 FKBP10 gene FKBP10 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Brucks syndrome 1 - 259450;Osteogenesis imperfecta, type XI, 610968 False 3 100;0;0 0.32 False ENSG00000141756 ENSG00000141756 HGNC:18169 FLNA gene FLNA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Terminal osseous dysplasia 300244;Melnick Needles syndrome 309350;Frontometaphyseal dysplasia 305620;Otopalatodigital syndrome, type II -304120;Otopalatodigital syndrome, type I -311300 False 3 100;0;0 0.32 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylocarpotarsal synostosis syndrome 272460;Atelosteogenesis, type III 108721;Boomerang dysplasia 112310;Atelosteogenesis, type I 108720;Larsen syndrome 150250 False 3 100;0;0 0.32 False ENSG00000136068 ENSG00000136068 HGNC:3755 FN1 gene FN1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondylometaphyseal dysplasia, corner fracture type 184255 False 3 100;0;0 0.32 False ENSG00000115414 ENSG00000115414 HGNC:3778 FUCA1 gene FUCA1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Fucosidosis 230000 False 3 100;0;0 0.32 False ENSG00000179163 ENSG00000179163 HGNC:4006 FZD2 gene FZD2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant omodysplasia type 2 164745 False 3 100;0;0 0.32 False ENSG00000180340 ENSG00000180340 HGNC:4040 GALNS gene GALNS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA 253000 False 3 100;0;0 0.32 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial I 211900 False 3 100;0;0 0.32 False ENSG00000115339 ENSG00000115339 HGNC:4125 GDF5 gene GDF5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type C 113100;Acromesomelic dysplasia, Hunter-Thompson type 201250;Du Pan syndrome 228900;{Osteoarthritis-5} 612400;Chondrodysplasia, Grebe type 200700;Brachydactyly, type A2 112600;Brachydactyly, type A1, C 615072;Symphalangism, proximal, 1B 615298;Multiple synostoses syndrome 2 610017 False 3 100;0;0 0.32 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil syndrome 1, autosomal dominant 118100;Multiple synostoses syndrome type 4 - 617898. False 3 100;0;0 0.32 False ENSG00000156466 ENSG00000156466 HGNC:4221 GHR gene GHR Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal increased responsiveness to growth hormone 604271;Laron dwarfism, 262500;Growth hormone insensitivity False 3 100;0;0 0.32 False ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia 164200;Syndactyly, type III 186100;Erythrokeratodermia variabilis et progressiva 133200;Palmoplantar keratoderma with congenital alopecia 104100;Oculodentodigital dysplasia, autosomal recessive 257850;Craniometaphyseal dysplasia, autosomal recessive 218400;Hypoplastic left heart syndrome 1 241550 False 3 100;0;0 0.32 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLB1 gene GLB1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I 230500;Mucopolysaccharidosis type IVB (Morquio) 253010 False 3 100;0;0 0.32 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLI3 gene GLI3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome 175700;Polydactyly, postaxial, types A1 and B 174200;Polydactyly, preaxial, type IV 174700;Pallister-Hall syndrome 146510;{Hypothalamic hamartomas, somatic} 241800 False 3 100;0;0 0.32 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNAS gene GNAS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ia 103580;Pseudohypoparathyroidism Ib 603233;Osseous heteroplasia, progressive 166350;McCune-Albright syndrome, somatic, mosaic 174800 False 3 100;0;0 0.32 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNPAT gene GNPAT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Rhizomelic Chondrodysplasia Punctata;RCDP2;Rhizomelic chondrodysplasia punctata type 2;Chondrodysplasia punctata, rhizomelic, type 2, 222765 False 3 100;0;0 0.32 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III alpha/beta 252600;Mucolipidosis II alpha/beta 252500 False 3 100;0;0 0.32 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma 252605 False 3 100;0;0 0.32 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID 252940 False 3 100;0;0 0.32 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum 231070 False 3 100;0;0 0.32 False ENSG00000120370 ENSG00000120370 HGNC:25676 GPC6 gene GPC6 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1 258315 False 3 100;0;0 0.32 False ENSG00000183098 ENSG00000183098 HGNC:4454 GSC gene GSC Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 False 3 100;0;0 0.32 False ENSG00000133937 ENSG00000133937 HGNC:4612 GUSB gene GUSB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII 253220 False 3 100;0;0 0.32 False ENSG00000169919 ENSG00000169919 HGNC:4696 HDAC8 gene HDAC8 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wilson-Turner syndrome 309585;Cornelia de Lange syndrome 5 300882 False 3 100;0;0 0.32 False ENSG00000147099 ENSG00000147099 HGNC:13315 HES7 gene HES7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive 613686 False 3 100;0;0 0.32 False ENSG00000179111 ENSG00000179111 HGNC:15977 HGSNAT gene HGSNAT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 False 3 100;0;0 0.32 False ENSG00000165102 ENSG00000165102 HGNC:26527 HOXD11 gene HOXD11 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndactyly, type V 186300;Brachydactyly-syndactyly syndrome 610713;Brachydactyly, type E 113300;Synpolydactyly 1 186000;Brachydactyly, type D 113200 False 3 0;100;0 0.32 False ENSG00000128713 ENSG00000128713 HGNC:5134 HOXD13 gene HOXD13 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cranioosteoarthropathy 259100;Digital clubbing, isolated congenital 119900;Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 False 3 100;0;0 0.32 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPGD gene HPGD Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cranioosteoarthropathy 259100;Digital clubbing, isolated congenital 119900;Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 False 3 100;0;0 0.32 False ENSG00000164120 ENSG00000164120 HGNC:5154 HSPG2 gene HSPG2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Dyssegmental dysplasia, Silverman-Handmaker type 224410;Schwartz-Jampel syndrome, type 1 255800 False 3 100;0;0 0.32 False ENSG00000142798 ENSG00000142798 HGNC:5273 IDH2 gene IDH2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875) False 3 100;0;0 0.32 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II 309900 False 3 100;0;0 0.32 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih 607014;Mucopolysaccharidosis Is 607016;Mucopolysaccharidosis Ih/s 607015 False 3 100;0;0 0.32 False ENSG00000127415 ENSG00000127415 HGNC:5391 IFIH1 gene IFIH1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Singleton-Merten syndrome 1 (182250) False 3 100;0;0 0.32 False ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM5 gene IFITM5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type V 610967 False 3 100;0;0 0.32 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFT122 gene IFT122 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1 218330 False 3 100;0;0 0.32 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 False 3 100;0;0 0.32 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, 615630;SRTD10 False 3 100;0;0 0.32 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT80 gene IFT80 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly 611263 False 3 100;0;0 0.32 False ENSG00000068885 ENSG00000068885 HGNC:29262 IGF1R gene IGF1R Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 100;0;0 0.32 False ENSG00000140443 ENSG00000140443 HGNC:5465 IHH gene IHH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia 607778;Brachydactyly, type A1 112500 False 3 100;0;0 0.32 False ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKG gene IKBKG Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Incontinentia pigmenti 308300;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 False 3 100;0;0 0.32 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL11RA gene IL11RA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies 614188 False 3 100;0;0 0.32 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL1RN gene IL1RN Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency 612852 False 3 100;0;0 0.32 False ENSG00000136689 ENSG00000136689 HGNC:6000 IMPAD1 gene IMPAD1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type 614078 False 3 100;0;0 0.32 False ENSG00000104331 ENSG00000104331 HGNC:26019 INPPL1 gene INPPL1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia 258480 False 3 100;0;0 0.32 False ENSG00000165458 ENSG00000165458 HGNC:6080 KAT6A gene KAT6A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 32 - 616268 False 3 100;0;0 0.32 False ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome 603736;Genitopatellar syndrome 606170 False 3 100;0;0 0.32 False ENSG00000156650 ENSG00000156650 HGNC:17582 KIF22 gene KIF22 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 False 3 100;0;0 0.32 False ENSG00000079616 ENSG00000079616 HGNC:6391 KIF7 gene KIF7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 False 3 100;0;0 0.32 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2D gene KMT2D Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1 - 147920 False 3 100;0;0 0.32 False ENSG00000167548 ENSG00000167548 HGNC:7133 LBR gene LBR Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pelger-Huet anomaly with mild skeletal anomalies 618019;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly 169400 False 3 100;0;0 0.32 False ENSG00000143815 ENSG00000143815 HGNC:6518 LEMD3 gene LEMD3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melorheostosis with osteopoikilosis 155950 IC;Osteopoikilosis 166700;Buschke-Ollendorff syndrome 166700 False 3 100;0;0 0.32 False ENSG00000174106 ENSG00000174106 HGNC:28887 LIFR gene LIFR Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 False 3 100;0;0 0.32 False ENSG00000113594 ENSG00000113594 HGNC:6597 LMBR1 gene LMBR1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laurin-Sandrow syndrome 135750;Polydactyly, preaxial type II 174500;Hypoplastic or aplastic tibia with polydactyly 188740;Triphalangeal thumb, type I 174500;Triphalangeal thumb-polysyndactyly syndrome 174500;Syndactyly, type IV 186200;Acheiropody 200500 False 3 100;0;0 0.32 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMNA gene LMNA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Heart-hand syndrome, Slovenian type 610140;616516;Hutchinson-Gilford progeria 176670;Mandibuloacral dysplasia 248370 False 3 100;0;0 0.32 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMX1B gene LMX1B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome 161200 False 3 100;0;0 0.32 False ENSG00000136944 ENSG00000136944 HGNC:6654 LONP1 gene LONP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 False 3 100;0;0 0.32 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN2 gene LPIN2 Expert Review Green;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 3 100;0;0 0.32 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRP4 gene LRP4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 2 614305;Cenani-Lenz syndactyly syndrome 212780 False 3 100;0;0 0.32 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal [Bone mineral density variability 1] 601884;Osteopetrosis, autosomal dominant 1 607634;Osteosclerosis 144750;van Buchem disease, type 2 607636;Osteoporosis-pseudoglioma syndrome 259770;Hyperostosis, endosteal 144750;{Osteoporosis} 166710 False 3 100;0;0 0.32 False ENSG00000162337 ENSG00000162337 HGNC:6697 LTBP3 gene LTBP3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dental anomalies and short stature 610216;Geleophysic dysplasia 3 617809 False 3 100;0;0 0.32 False ENSG00000168056 ENSG00000168056 HGNC:6716 MAFB gene MAFB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome 166300 False 3 100;0;0 0.32 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAN2B1 gene MAN2B1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 248500 False 3 100;0;0 0.32 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Beta-mannosidosis, 248510 False 3 100;0;0 0.32 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAP3K7 gene MAP3K7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontometaphyseal dysplasia 2, 617137 False 3 100;0;0 0.32 False ENSG00000135341 ENSG00000135341 HGNC:6859 MASP1 gene MASP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1 - 257920 False 3 100;0;0 0.32 False ENSG00000127241 ENSG00000127241 HGNC:6901 MATN3 gene MATN3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia, 608728;Epiphyseal dysplasia, multiple, 5, 607078 False 3 100;0;0 0.32 False ENSG00000132031 ENSG00000132031 HGNC:6909 MEGF8 gene MEGF8 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2 614976 False 3 100;0;0 0.32 False ENSG00000105429 ENSG00000105429 HGNC:3233 MEOX1 gene MEOX1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2 214300 False 3 100;0;0 0.32 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESP2 gene MESP2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive 608681 False 3 100;0;0 0.32 False ENSG00000188095 ENSG00000188095 HGNC:29659 MGP gene MGP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Keutel syndrome 245150 False 3 100;0;0 0.32 False ENSG00000111341 ENSG00000111341 HGNC:7060 MKS1 gene MKS1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1 249000;Bardet-Biedl syndrome 13 615990 False 3 100;0;0 0.32 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMP13 gene MMP13 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal anadysplasia 1 602111;Spondyloepimetaphyseal dysplasia, Missouri type 602111;Metaphyseal dysplasia, Spahr type - 250400 False 3 100;0;0 0.32 False ENSG00000137745 ENSG00000137745 HGNC:7159 MMP2 gene MMP2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Multicentric osteolysis, nodulosis, and arthropathy 259600 False 3 100;0;0 0.32 False ENSG00000087245 ENSG00000087245 HGNC:7166 MMP9 gene MMP9 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Metaphyseal anadysplasia 2 613073 False 3 100;0;0 0.32 False ENSG00000100985 ENSG00000100985 HGNC:7176 MNX1 gene MNX1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome 176450 False 3 100;0;0 0.32 False ENSG00000130675 ENSG00000130675 HGNC:4979 MPDU1 gene MPDU1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If 609180 False 3 100;0;0 0.32 False ENSG00000129255 ENSG00000129255 HGNC:7207 MSX2 gene MSX2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis, type 2 604757;Parietal foramina with cleidocranial dysplasia 168550;Parietal foramina 1 168500 False 3 100;0;0 0.32 False ENSG00000120149 ENSG00000120149 HGNC:7392 MYCN gene MYCN Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 False 3 100;0;0 0.32 False ENSG00000134323 ENSG00000134323 HGNC:7559 NAGLU gene NAGLU Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 False 3 100;0;0 0.32 False ENSG00000108784 ENSG00000108784 HGNC:7632 NANS gene NANS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 False 3 100;0;0 0.32 False ENSG00000095380 ENSG00000095380 HGNC:19237 NEK1 gene NEK1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short rib thoracic dysplasia 6 with or without polydactyly - 263520 False 3 100;0;0 0.32 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEU1 gene NEU1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Sialidosis, type II 256550;Sialidosis, type I 256550 False 3 100;0;0 0.32 False ENSG00000204386 ENSG00000204386 HGNC:7758 NF1 gene NF1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, familial spinal 162210;Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis, type 1 162200 False 3 100;0;0 0.32 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIX gene NFIX Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marshall-Smith syndrome 602535;Sotos syndrome 2 614753 False 3 100;0;0 0.32 False ENSG00000008441 ENSG00000008441 HGNC:7788 NIPBL gene NIPBL Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 False 3 100;0;0 0.32 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKX3-2 gene NKX3-2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 False 3 100;0;0 0.32 False ENSG00000109705 ENSG00000109705 HGNC:951 NLRP3 gene NLRP3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 False 3 100;0;0 0.32 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOG gene NOG Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Symphalangism, proximal, 1A 185800;Brachydactyly, type B2 611377;Tarsal-carpal coalition syndrome 186570;Stapes ankylosis with broad thumb and toes 184460;Multiple synostoses syndrome 1 186500 False 3 100;0;0 0.32 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH1 gene NOTCH1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Limb, scalp and skull defects;AOS;Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly);Adams-Oliver syndrome 5, 616028 False 3 100;0;0 0.32 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500;Alagille syndrome 2 610205 False 3 100;0;0 0.32 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPR2 gene NPR2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Maroteaux type 602875;Short stature with nonspecific skeletal abnormalities 616255;Epiphyseal chondrodysplasia, Miura type 615923 False 3 100;0;0 0.32 False ENSG00000159899 ENSG00000159899 HGNC:7944 NSD1 gene NSD1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1 117550 False 3 100;0;0 0.32 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050;CK syndrome 300831 False 3 100;0;0 0.32 False ENSG00000147383 ENSG00000147383 HGNC:13398 OAT gene OAT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia 258870 False 3 100;0;0 0.32 False ENSG00000065154 ENSG00000065154 HGNC:8091 OBSL1 gene OBSL1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2 612921 False 3 100;0;0 0.32 False ENSG00000124006 ENSG00000124006 HGNC:29092 OFD1 gene OFD1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10 300804;Simpson-Golabi-Behmel syndrome, type 2 300209 XLR;Orofaciodigital syndrome I 311200 XLD False 3 100;0;0 0.32 False ENSG00000046651 ENSG00000046651 HGNC:2567 ORC1 gene ORC1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1 224690 False 3 100;0;0 0.32 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2 613800 False 3 100;0;0 0.32 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3 613803 False 3 100;0;0 0.32 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSTM1 gene OSTM1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 259720 False 3 100;0;0 0.32 False ENSG00000081087 ENSG00000081087 HGNC:21652 P3H1 gene P3H1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII 610915 False 3 100;0;0 0.32 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cole-Carpenter syndrome 1 112240 False 3 100;0;0 0.32 False ENSG00000185624 ENSG00000185624 HGNC:8548 PAM16 gene PAM16 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 False 3 100;0;0 0.32 False ENSG00000217930 ENSG00000217930 HGNC:29679 PAPSS2 gene PAPSS2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 False 3 100;0;0 0.32 False ENSG00000198682 ENSG00000198682 HGNC:8604 PCNT gene PCNT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II 210720 False 3 100;0;0 0.32 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 False 3 100;0;0 0.32 False ENSG00000161217 ENSG00000161217 HGNC:8754 PDE3A gene PDE3A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, 112410 False 3 100;0;0 0.32 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance 614613 False 3 100;0;0 0.32 False ENSG00000113448 ENSG00000113448 HGNC:8783 PEX5 gene PEX5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110;Rhizomelic chondrodysplasia punctata, type 5 616716 False 3 100;0;0 0.32 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1, 215100;Rhizomelic CDP type 1 False 3 100;0;0 0.32 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHEX gene PHEX Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, X-linked dominant 307800 False 3 100;0;0 0.32 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHGDH gene PHGDH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 False 3 100;0;0 0.32 False ENSG00000092621 ENSG00000092621 HGNC:8923 PIGT gene PIGT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 False 3 100;0;0 0.32 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300 False 3 100;0;0 0.32 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIK3R1 gene PIK3R1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome 269880 False 3 100;0;0 0.32 False ENSG00000145675 ENSG00000145675 HGNC:8979 PITX1 gene PITX1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800;Liebenberg syndrome 186550 False 3 100;0;0 0.32 False ENSG00000069011 ENSG00000069011 HGNC:9004 PLOD2 gene PLOD2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2 609220 False 3 100;0;0 0.32 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Bone mineral density QTL18, osteoporosis 300910 False 3 100;0;0 0.32 False ENSG00000102024 ENSG00000102024 HGNC:9091 POC1A gene POC1A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 False 3 100;0;0 0.32 False ENSG00000164087 ENSG00000164087 HGNC:24488 POLR1A gene POLR1A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type 616462 False 3 100;0;0 0.32 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 3 248390 False 3 100;0;0 0.32 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2 613717 False 3 100;0;0 0.32 False ENSG00000186184 ENSG00000186184 HGNC:20422 POP1 gene POP1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, 617396 False 3 100;0;0 0.32 False ENSG00000104356 ENSG00000104356 HGNC:30129 POR gene POR Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 False 3 100;0;0 0.32 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPIB gene PPIB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX 259440 False 3 100;0;0 0.32 False ENSG00000166794 ENSG00000166794 HGNC:9255 PRKAR1A gene PRKAR1A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrodysostosis 1, with or without hormone resistance 101800 False 3 100;0;0 0.32 False ENSG00000108946 ENSG00000108946 HGNC:9388 PRMT7 gene PRMT7 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 False 3 100;0;0 0.32 False ENSG00000132600 ENSG00000132600 HGNC:25557 PSAT1 gene PSAT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2 616038 False 3 100;0;0 0.32 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 False 3 100;0;0 0.32 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTDSS1 gene PTDSS1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism 151050 False 3 100;0;0 0.32 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTH1R gene PTH1R Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Failure of tooth eruption, primary 125350;Eiken syndrome 600002;Metaphyseal chondrodysplasia, Murk Jansen type 156400;Chondrodysplasia, Blomstrand type 215045 False 3 100;0;0 0.32 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type E2 613382 False 3 100;0;0 0.32 False ENSG00000087494 ENSG00000087494 HGNC:9607 PTPN11 gene PTPN11 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metachondromatosis 156250;LEOPARD syndrome 1 151100;Noonan syndrome 1 163950 False 3 100;0;0 0.32 False ENSG00000179295 ENSG00000179295 HGNC:9644 PUF60 gene PUF60 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583;VRJS False 3 100;0;0 0.32 False ENSG00000179950 ENSG00000179950 HGNC:17042 PYCR1 gene PYCR1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB 612940;Cutis laxa, autosomal recessive, type IIIB 614438 False 3 100;0;0 0.32 False ENSG00000183010 ENSG00000183010 HGNC:9721 RAB23 gene RAB23 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 201000 False 3 100;0;0 0.32 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB33B gene RAB33B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2 615222 False 3 100;0;0 0.32 False ENSG00000172007 ENSG00000172007 HGNC:16075 RAD21 gene RAD21 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4 614701 False 3 100;0;0 0.32 False ENSG00000164754 ENSG00000164754 HGNC:9811 RASGRP2 gene RASGRP2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 18 615888 False 3 100;0;0 0.32 False ENSG00000068831 ENSG00000068831 HGNC:9879 RBM8A gene RBM8A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome 274000 False 3 100;0;0 0.32 False ENSG00000131795 ENSG00000265241 HGNC:9905 RECQL4 gene RECQL4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal RAPILINO syndrome 266280;Rothmund-Thomson syndrome 268400;Baller-Gerold syndrome 218600 False 3 100;0;0 0.32 False ENSG00000160957 ENSG00000160957 HGNC:9949 RFT1 gene RFT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015 False 3 100;0;0 0.32 False ENSG00000163933 ENSG00000163933 HGNC:30220 RMRP gene RMRP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia 250250;Anauxetic dysplasia 607095;Metaphyseal dysplasia without hypotrichosis 250460 False 3 100;0;0 0.32 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNU4ATAC gene RNU4ATAC Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Roifman syndrome 616651;Microcephalic osteodysplastic primordial dwarfism, type I 210710 False 3 100;0;0 0.32 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1 113000;Robinow syndrome, autosomal recessive 268310 False 3 100;0;0 0.32 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Meckel syndrome 5 611561;Joubert syndrome 7 611560 False 3 100;0;0 0.32 False ENSG00000103494 ENSG00000103494 HGNC:29168 RUNX2 gene RUNX2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510;Cleidocranial dysplasia, forme fruste, with brachydactyly 119600;Cleidocranial dysplasia, forme fruste, dental anomalies only 119600;Cleidocranial dysplasia 119600 False 3 100;0;0 0.32 False ENSG00000124813 ENSG00000124813 HGNC:10472 SALL1 gene SALL1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 False 3 100;0;0 0.32 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Okihiro (Duane-radial ray) syndrome 607323;IVIC syndrome 147750 False 3 100;0;0 0.32 False ENSG00000101115 ENSG00000101115 HGNC:15924 SBDS gene SBDS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 260400 False 3 100;0;0 0.32 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCARF2 gene SCARF2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome 600920 False 3 100;0;0 0.32 False ENSG00000244486 ENSG00000244486 HGNC:19869 SEC24D gene SEC24D Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta, Cole Carpenter syndrome;Cole-Carpenter syndrome;SYNDROMIC OSTEOGENESIS IMPERFECTA False 3 100;0;0 0.32 False ENSG00000150961 ENSG00000150961 HGNC:10706 SERPINF1 gene SERPINF1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, 613982;osteogenesis imperfecta;OI/osteoporosis;Osteogenesis Imperfecta, Recessive False 3 100;0;0 0.32 False ENSG00000132386 ENSG00000132386 HGNC:8824 SETD2 gene SETD2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome 616831 False 3 100;0;0 0.32 False ENSG00000181555 ENSG00000181555 HGNC:18420 SF3B4 gene SF3B4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type 154400 False 3 100;0;0 0.32 False ENSG00000143368 ENSG00000143368 HGNC:10771 SFRP4 gene SFRP4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal PYL;Metaphyseal dysplasia;Pyle disease 265900 False 3 100;0;0 0.32 False ENSG00000106483 ENSG00000106483 HGNC:10778 SGSH gene SGSH Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 False 3 100;0;0 0.32 False ENSG00000181523 ENSG00000181523 HGNC:10818 SH3BP2 gene SH3BP2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism 118400 False 3 100;0;0 0.32 False ENSG00000087266 ENSG00000087266 HGNC:10825 SH3PXD2B gene SH3PXD2B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome 249420 False 3 100;0;0 0.32 False ENSG00000174705 ENSG00000174705 HGNC:29242 SHOX gene SHOX Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Langer mesomelic dysplasia 249700;Short stature, idiopathic familial 300582;Leri-Weill dyschondrosteosis 127300 False 3 100;0;0 0.32 False ENSG00000185960 ENSG00000185960 HGNC:10853 SKI gene SKI Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome 182212 False 3 100;0;0 0.32 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC17A5 gene SLC17A5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile 269920 False 3 100;0;0 0.32 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC26A2 gene SLC26A2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal ACG1B,DD,rMED;multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Recessive;Epiphyseal dysplasia, multiple, 4 False 3 100;0;0 0.32 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC29A3 gene SLC29A3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome 602782 False 3 100;0;0 0.32 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC34A3 gene SLC34A3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria 241530 False 3 100;0;0 0.32 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35D1 gene SLC35D1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia 269250 False 3 100;0;0 0.32 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC39A13 gene SLC39A13 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 False 3 100;0;0 0.32 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLCO2A1 gene SLCO2A1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 False 3 100;0;0 0.32 False ENSG00000174640 ENSG00000174640 HGNC:10955 SMAD3 gene SMAD3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3 613795 False 3 100;0;0 0.32 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myhre syndrome 139210 False 3 100;0;0 0.32 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCAL1 gene SMARCAL1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia 242900 False 3 100;0;0 0.32 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMC1A gene SMC1A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia 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 300590 False 3 100;0;0 0.32 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3 610759 False 3 100;0;0 0.32 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMOC1 gene SMOC1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies 206920;Ophthalmo-acromelic syndrome;Polydactyly False 3 100;0;0 0.32 False ENSG00000198732 ENSG00000198732 HGNC:20318 SNRPB gene SNRPB Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebrocostomandibular syndrome 117650 False 3 100;0;0 0.32 False ENSG00000125835 ENSG00000125835 HGNC:11153 SNX10 gene SNX10 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 615085 False 3 100;0;0 0.32 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOST gene SOST Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniodiaphyseal dysplasia, autosomal dominant 122860;Van Buchem disease 239100;Sclerosteosis 1 269500 False 3 100;0;0 0.32 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX9 gene SOX9 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia with autosomal sex reversal 114290;Acampomelic campomelic dysplasia 114290;Campomelic dysplasia 114290 False 3 100;0;0 0.32 False ENSG00000125398 ENSG00000125398 HGNC:11204 SUMF1 gene SUMF1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 272200 False 3 100;0;0 0.32 False ENSG00000144455 ENSG00000144455 HGNC:20376 TALDO1 gene TALDO1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 606003 False 3 100;0;0 0.32 False ENSG00000177156 ENSG00000177156 HGNC:11559 TBCE gene TBCE Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome 241410;Kenny-Caffey syndrome, type 1 244460. False 3 100;0;0 0.32 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBX15 gene TBX15 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Cousin syndrome 260660 False 3 100;0;0 0.32 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX3 gene TBX3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome 181450 False 3 100;0;0 0.32 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ischiocoxopodopatellar syndrome 147891 False 3 100;0;0 0.32 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome 142900 False 3 100;0;0 0.32 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBX6 gene TBX6 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondylocostal dysostosis 5 122600 False 3 100;0;0 0.32 False ENSG00000149922 ENSG00000149922 HGNC:11605 TBXAS1 gene TBXAS1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome 231095 False 3 100;0;0 0.32 False ENSG00000059377 ENSG00000059377 HGNC:11609 TCF12 gene TCF12 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniosynostosis 3 615314 False 3 100;0;0 0.32 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCIRG1 gene TCIRG1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 259700 False 3 100;0;0 0.32 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCOF1 gene TCOF1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1 154500 False 3 100;0;0 0.32 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCTEX1D2 gene TCTEX1D2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 False 3 100;0;0 0.32 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN2 gene TCTN2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24 616654;Meckel syndrome 8 613885 False 3 100;0;0 0.32 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IV 258860;Joubert syndrome 18 614815 False 3 100;0;0 0.32 False ENSG00000119977 ENSG00000119977 HGNC:24519 TERT gene TERT Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 False 3 100;0;0 0.32 False ENSG00000164362 ENSG00000164362 HGNC:11730 TGDS gene TGDS Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Catel-Manzke syndrome 616145 False 3 100;0;0 0.32 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB1 gene TGFB1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Camurati-Engelmann disease 131300 False 3 100;0;0 0.32 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB2 gene TGFB2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4 614816 False 3 100;0;0 0.32 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFBR1 gene TGFBR1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1 609192 False 3 100;0;0 0.32 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2 610168 False 3 100;0;0 0.32 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMCO1 gene TMCO1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 False 3 0;0;100 0.32 False ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM165 gene TMEM165 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727 False 3 100;0;0 0.32 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM216 gene TMEM216 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2 603194;Joubert syndrome 2 608091 False 3 100;0;0 0.32 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20 614970;Meckel syndrome 11 615397 False 3 100;0;0 0.32 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM38B gene TMEM38B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV 615066;Osteogenesis imperfecta, type XIV, 615066;osteogenesis imperfecta False 3 100;0;0 0.32 False ENSG00000095209 ENSG00000095209 HGNC:25535 TNFRSF11A gene TNFRSF11A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteolysis, familial expansile 174810;Osteopetrosis, autosomal recessive 7 612301;Paget disease of bone 2, early-onset 602080 False 3 100;0;0 0.32 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF11B gene TNFRSF11B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset 239000 False 3 100;0;0 0.32 False ENSG00000164761 ENSG00000164761 HGNC:11909 TNFSF11 gene TNFSF11 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 259710 False 3 100;0;0 0.32 False ENSG00000120659 ENSG00000120659 HGNC:11926 TP63 gene TP63 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rapp-Hodgkin syndrome 129400;Orofacial cleft 8 129400;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292;Hay-Wells syndrome 106260;ULT syndrome 103285;Split-hand/foot malformation 4 605289;Limb-mammary syndrome 603543 False 3 100;0;0 0.32 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRAPPC2 gene TRAPPC2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepiphyseal dysplasia tarda 313400 False 3 100;0;0 0.32 False ENSG00000196459 ENSG00000196459 HGNC:23068 TREM2 gene TREM2 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease 221770 False 3 100;0;0 0.32 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRIP11 gene TRIP11 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Achondrogenesis, type IA 200600 False 3 100;0;0 0.32 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRPS1 gene TRPS1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type III 190351;Trichorhinophalangeal syndrome, type I 190350 False 3 100;0;0 0.32 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachyolmia type 3 113500;Hereditary motor and sensory neuropathy, type IIc 606071;Digital arthropathy-brachydactyly, familial 606835;SED, Maroteaux type 184095;Parastremmatic dwarfism 168400;Metatropic dysplasia 156530;Scapuloperoneal spinal muscular atrophy 181405;Spinal muscular atrophy, distal, congenital nonprogressive 600175;Spondylometaphyseal dysplasia, Kozlowski type 184252 False 3 100;0;0 0.32 False ENSG00000111199 ENSG00000111199 HGNC:18083 TTC21B gene TTC21B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Asphyxiating Thoracic Dystrophy;SRTD4 False 3 100;0;0 0.32 False ENSG00000123607 ENSG00000123607 HGNC:25660 TWIST1 gene TWIST1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow-Sorauf syndrome 180750;Saethre-Chotzen syndrome 101400;Craniosynostosis, type 1 123100;Saethre-Chotzen syndrome with eyelid anomalies 101400 False 3 100;0;0 0.32 False ENSG00000122691 ENSG00000122691 HGNC:12428 TYROBP gene TYROBP Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease 221770 False 3 100;0;0 0.32 False ENSG00000011600 ENSG00000011600 HGNC:12449 WDR34 gene WDR34 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 False 3 100;0;0 0.32 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly 614091;Cranioectodermal dysplasia 2 613610 False 3 100;0;0 0.32 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly 615503 False 3 100;0;0 0.32 False ENSG00000126870 ENSG00000126870 HGNC:21862 WISP3 gene WISP3 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Arthropathy, progressive pseudorheumatoid, of childhood 208230;Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 False 3 100;0;0 0.32 False ENSG00000112761 ENSG00000112761 HGNC:12771 WNT1 gene WNT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal osteogenesis imperfecta;OI/osteoporosis;{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221;Osteogenesis imperfecta, type XV, 615220 False 3 100;0;0 0.32 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6 225300 False 3 100;0;0 0.32 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1 180700 False 3 100;0;0 0.32 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Ulna and fibula, absence of, with severe limb deficiency 276820;Fuhrmann syndrome 228930 False 3 100;0;0 0.32 False ENSG00000154764 ENSG00000154764 HGNC:12786 WRN gene WRN Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Werner syndrome -277700 False 3 100;0;0 0.32 False ENSG00000165392 ENSG00000165392 HGNC:12791 XRCC4 gene XRCC4 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction 616541 False 3 100;0;0 0.32 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2 615777 False 3 100;0;0 0.32 False ENSG00000103489 ENSG00000103489 HGNC:15516 YY1 gene YY1 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome 617557 False 3 100;0;0 0.32 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZMPSTE24 gene ZMPSTE24 Expert Review Green;NHS GMS GMS Musculoskeletal specialist test group Skeletal dysplasia BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy 608612;Restrictive dermopathy, lethal 275210 False 3 100;0;0 0.32 False ENSG00000084073 ENSG00000084073 HGNC:12877 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 ISCA-37394-Loss region Expert Review Green;NHS GMS;Expert list GMS Musculoskeletal specialist test group Skeletal dysplasia 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 25402011;23188045 False 3 100;0;0 0.32 False 2 239032997 241988449 3 80 cnv_loss 2q37.3 terminal region (includes HDAC4) Loss