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 Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome);Hypertrichotic osteochondrodysplasia 239850" False 3 67;33;0 8.46 False ENSG00000069431 ENSG00000069431 HGNC:60 ACAN gene ACAN Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal 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 24762113 False 3 67;33;0 8.46 False ENSG00000157766 ENSG00000157766 HGNC:319 ACP5 gene ACP5 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation 607944 False 3 67;33;0 8.46 False ENSG00000102575 ENSG00000102575 HGNC:124 ACVR1 gene ACVR1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva 135100 False 3 67;33;0 8.46 False ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS10 gene ADAMTS10 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, 277600 15368195;19836009;30060141 False 3 50;50;0 8.46 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome type 4 19836009;22486325;31019231;24940034 False 3 50;50;0 8.46 False ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTSL2 gene ADAMTSL2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1 231050 False 3 67;33;0 8.46 False ENSG00000197859 ENSG00000197859 HGNC:14631 AFF3 gene AFF3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KINSSHIP syndrome, OMIM:619297 18616733;21677750;25660031;31388108;33961779 False 3 100;0;0 8.46 False ENSG00000144218 ENSG00000144218 HGNC:6473 AGA gene AGA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000038002 ENSG00000038002 HGNC:318 AGPS gene AGPS Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121;Rhizomelic chondrodysplasia punctata, type 3 600121" False 3 67;33;0 8.46 False ENSG00000018510 ENSG00000018510 HGNC:327 ALG12 gene ALG12 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 3 67;33;0 8.46 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG3 gene ALG3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 False 3 67;33;0 8.46 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG9 gene ALG9 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Gillessen-Kaesbach-Nishimura syndrome 263210;Congenital disorder of glycosylation, type Il 608776;Gillessen-Kaesbach-Nishimura syndrome 263210" 25966638 False 3 67;33;0 8.46 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALPL gene ALPL Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult, OMIM:146300;Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500 False 3 75;25;0 8.46 False ENSG00000162551 ENSG00000162551 HGNC:438 ALX1 gene ALX1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia type 3 613456;Frontonasal dysplasia 3 613456 27324866;20451171 False 3 33;33;33 8.46 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1 136760 (frontorhiny);Frontonasal dysplasia 1 136760 False 3 67;33;0 8.46 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Frontonasal dysplasia 2 613451 False 3 67;33;0 8.46 False ENSG00000052850 ENSG00000052850 HGNC:450 AMER1 gene AMER1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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;Osteopathia striata with cranial sclerosis 300373" False 3 67;33;0 8.46 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANAPC1 gene ANAPC1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 31303264 False 3 67;33;0 8.46 False ENSG00000153107 ENSG00000153107 HGNC:19988 ANKH gene ANKH Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrocalcinosis 2 118600;Craniometaphyseal dysplasia 123000 False 3 75;25;0 8.46 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD11 gene ANKRD11 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome 148050 False 3 67;33;0 8.46 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO5 gene ANO5 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gnathodiaphyseal dysplasia OMIM:166260;gnathodiaphyseal dysplasia MONDO:0008151;Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;skeletal dysplasias;Disproportionate Short Stature 15124103;23047743;32112655 False 3 100;0;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171714 ENSG00000171714 HGNC:27337 ANTXR2 gene ANTXR2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome 228600 False 3 67;33;0 8.46 False ENSG00000163297 ENSG00000163297 HGNC:21732 ARCN1 gene ARCN1 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164 27476655;31075182;33154040 False 3 100;0;0 8.46 False ENSG00000095139 ENSG00000095139 HGNC:649 ARHGAP31 gene ARHGAP31 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1 100300 29924900;21565291 False 3 67;33;0 8.46 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARL6 gene ARL6 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 3 600151 15258860;15314642;19858128 False 3 0;0;0 8.46 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARSB gene ARSB Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200;Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200" False 3 67;33;0 8.46 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000157399 ENSG00000157399 HGNC:719 ARSK gene ARSK Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis, type X, OMIM:619698;mucopolysaccharidosis, type 10, MONDO:0030524 34916232;35959767;38292179 False 3 67;33;0 8.46 False ENSG00000164291 ENSG00000164291 HGNC:25239 ASXL1 gene ASXL1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome, OMIM:605039;Bohring-Opitz syndrome, MONDO:0011510 False 3 33;33;33 8.46 False ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Shashi-Pena syndrome 617190;Shashi-Pena syndrome 617190" 27693232 False 3 67;33;0 8.46 False ENSG00000143970 ENSG00000143970 HGNC:23805 ATP6V0A2 gene ATP6V0A2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IIA 219200;Cutis laxa, autosomal recessive, type IIA 219200" False 3 67;33;0 8.46 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, 300489;Menkes disease 309400;Occipital horn syndrome 304150 False 3 67;33;0 8.46 False ENSG00000165240 ENSG00000165240 HGNC:869 AXIN1 gene AXIN1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681 37582359 False 3 100;0;0 8.46 False ENSG00000103126 ENSG00000103126 HGNC:903 B3GALT6 gene B3GALT6 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600;Larsen alike phenotype (skd incl) False 3 67;33;0 8.46 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540;O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16909395;23889335 False 3 100;0;0 8.46 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT7 gene B4GALT7 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070 False 3 67;33;0 8.46 False ENSG00000027847 ENSG00000027847 HGNC:930 BBS1 gene BBS1 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 12118255;12567324;12677556;12524598;23143442;11567139 False 3 0;0;0 8.46 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 10, 615987 False 3 0;0;0 8.46 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 12, 615989 False 3 0;0;0 8.46 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 2, 615981 False 3 0;0;0 8.46 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 4, 615982 False 3 0;0;0 8.46 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 5, 615983 False 3 0;0;0 8.46 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 7, 615984 False 3 0;0;0 8.46 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 9, 615986 False 3 0;0;0 8.46 False ENSG00000122507 ENSG00000122507 HGNC:30000 BGN gene BGN Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepimetaphyseal dysplasia, X-linked, OMIM:300106 27236923 False 3 100;0;0 8.46 False ENSG00000182492 ENSG00000182492 HGNC:1044 BHLHA9 gene BHLHA9 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 False 3 67;33;0 8.46 False ENSG00000205899 ENSG00000205899 HGNC:35126 BMP1 gene BMP1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII, 614856 False 3 67;33;0 8.46 False ENSG00000168487 ENSG00000168487 HGNC:1067 BMP2 gene BMP2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 19327734;21357617;29198724 False 3 75;25;0 8.46 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMPER gene BMPER Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis 608022 False 3 67;33;0 8.46 False ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acromesomelic dysplasia, Demirhan type, OMIM:609441;Brachydactyly, type A1, D, OMIM:616849;Brachydactyly, type A2, OMIM:112600 False 3 67;33;0 8.46 False ENSG00000138696 ENSG00000138696 HGNC:1077 C21orf2 gene C21orf2 Expert list;Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial 602271;Axial Spondylometaphyseal Dysplasia 602271 26974433 False 3 67;33;0 8.46 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV 615948 False 3 67;33;0 8.46 False ENSG00000168014 ENSG00000168014 HGNC:24564 CA2 gene CA2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 False 3 75;25;0 8.46 False ENSG00000104267 ENSG00000104267 HGNC:1373 CANT1 gene CANT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1 251450;multiple epiphyseal dysplasia type 7, 617719. False 3 67;33;0 8.46 False ENSG00000171302 ENSG00000171302 HGNC:19721 CASR gene CASR Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBFB gene CBFB Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleidocranial dysplasia 2, OMIM:620099;cleidocranial dysplasia 2, MONDO:0859307 36241386 False 3 100;0;0 8.46 False ENSG00000067955 ENSG00000067955 HGNC:1539 CC2D2A gene CC2D2A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6 612284 23351400;24706459;18513680 False 3 67;33;0 8.46 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC8 gene CCDC8 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, 614205 21737058 False 3 67;33;0 8.46 False ENSG00000169515 ENSG00000169515 HGNC:25367 CDC45 gene CDC45 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Craniosynostosis (Wilkie) (from Ana Beleza);Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) 27374770 False 3 67;33;0 8.46 False ENSG00000093009 ENSG00000093009 HGNC:1739 CDH3 gene CDH3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 15805154;22140374 False 3 67;33;0 8.46 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDKN1C gene CDKN1C Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGE syndrome 614732 False 3 67;33;0 8.46 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDT1 gene CDT1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, OMIM:613804 False 3 67;33;0 8.46 False ENSG00000167513 ENSG00000167513 HGNC:24576 CEP120 gene CEP120 Expert list;Expert Review Green;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 213300;Short-rib thoracic dysplasia 13 with or without polydactyly 616300 27208211 False 3 67;33;0 8.46 False ENSG00000168944 ENSG00000168944 HGNC:26690 CEP290 gene CEP290 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000198707 ENSG00000198707 HGNC:29021 CHST14 gene CHST14 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776 False 3 67;33;0 8.46 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 False 3 67;33;0 8.46 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282 False 3 67;33;0 8.46 False ENSG00000131873 ENSG00000131873 HGNC:17198 CLCN5 gene CLCN5 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, OMIM:611490;Osteopetrosis, autosomal dominant 2, OMIM:166600 False 3 75;25;0 8.46 False ENSG00000103249 ENSG00000103249 HGNC:2025 COG1 gene COG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg 611209 16537452;19008299 False 3 67;33;0 8.46 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saul-Wilson syndrome, OMIM:618150;microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 31949312;30290151 False 3 50;50;0 8.46 False Other ENSG00000103051 ENSG00000103051 HGNC:18620 COL10A1 gene COL10A1 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondrodysplasia, Schmid type 156500 False 3 75;25;0 8.46 False ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type II, OMIM:604841;Marshall syndrome, OMIM:154780;Fibrochondrogenesis 1, OMIM:228520 False 3 75;25;0 8.46 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type III 184840;Otospondylomegaepiphyseal dysplasia 215150;Fibrochondrogenesis 2 614524?;Fibrochondrogenesis 2 614524;Weissenbacher-Zweymuller syndrome 277610 False 3 75;25;0 8.46 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL1A1 gene COL1A1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, cardiac valvular form, OMIM:225320;Ehlers-Danlos syndrome, type VIIB, OMIM:130060;Osteogenesis imperfecta, type II, OMIM:166210;Osteogenesis imperfecta, type III, OMIM:259420;Osteogenesis imperfecta, type IV, OMIM:166220 False 3 75;25;0 8.46 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL27A1 gene COL27A1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Steel syndrome, OMIM:615155 24986830;28276056;28322503;31903681;32360765;33963180 False 3 100;0;0 8.46 False ENSG00000196739 ENSG00000196739 HGNC:22986 COL2A1 gene COL2A1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL9A1 gene COL9A1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type IV, OMIM:614134;Epiphyseal dysplasia, multiple, 6, OMIM:614135 False 3 75;25;0 8.46 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type V, OMIM:614284;Epiphyseal dysplasia, multiple, 2, OMIM:600204 False 3 75;25;0 8.46 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Emory Genetics Laboratory;Expert;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 False 3 75;25;0 8.46 False ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC11 gene COLEC11 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2 265050 21258343;2569826;8933348;28301481 False 3 67;33;0 8.46 False ENSG00000118004 ENSG00000118004 HGNC:17213 COMP gene COMP Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, 1, OMIM:132400;Pseudoachondroplasia, OMIM:177170 False 3 75;25;0 8.46 False ENSG00000105664 ENSG00000105664 HGNC:2227 COPB2 gene COPB2 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal juvenile osteoporosis;Osteopenia;Osteoporosis;recurrent fractures 34450031;29036432 False 3 67;33;0 8.46 False ENSG00000184432 ENSG00000184432 HGNC:2232 CREB3L1 gene CREB3L1 Expert Review;Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI 616229 25007323;29936144.;28817112;30657919 False 3 33;67;0 8.46 False ENSG00000157613 ENSG00000157613 HGNC:18856 CREBBP gene CREBBP Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Rubinstein-Taybi syndrome 180849;Rubinstein-Taybi syndrome 180849" False 3 50;50;0 8.46 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRTAP gene CRTAP Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII 610682 False 3 75;25;0 8.46 False ENSG00000170275 ENSG00000170275 HGNC:2379 CSGALNACT1 gene CSGALNACT1 Expert Review;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia with mild joint laxity;non-proportionate short stature;Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870;skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 27599773;31325655;31705726 False 3 100;0;0 8.46 False ENSG00000147408 ENSG00000147408 HGNC:24290 CSPP1 gene CSPP1 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 21 615636; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy;ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy;Joubert syndrome 21 615636; ORPHA:475 Joubert syndrome;ORPHA:564 Meckel syndrome;ORPHA:475 Joubert syndrome; ORPHA:564 Meckel syndrome" 24360808;24360803 False 3 67;33;0 8.46 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTGF gene CTGF Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Kyphomelic dysplasia, OMIM:211350;kyphomelic dysplasia, MONDO:0008881;spondyloepimetaphyseal dysplasia, MONDO:0100510 12736220;39414788;39506047 False 3 100;0;0 8.46 False ENSG00000118523 ENSG00000118523 HGNC:2500 CTSA gene CTSA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 256540 False 3 67;33;0 8.46 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome 245010,;Haim-Munk syndrome 245010 15727652;26205983;24966751 False 3 67;33;0 8.46 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSK gene CTSK Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 265800 28328823 False 3 67;33;0 8.46 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUL7 gene CUL7 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1 273750 False 3 67;33;0 8.46 False ENSG00000044090 ENSG00000044090 HGNC:21024 CYP27B1 gene CYP27B1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I 264700 False 3 67;33;0 8.46 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation, 600081 22855339;15128933;28548312;25942481 False 3 100;0;0 8.46 False ENSG00000186104 ENSG00000186104 HGNC:20580 DCC gene DCC Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 28250456;33141514 False 3 25;50;25 8.46 False ENSG00000187323 ENSG00000187323 HGNC:2701 DDR2 gene DDR2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported;Spondylometaepiphyseal dysplasia, short limb-hand type 271665 30449416;39095787;23637089;30449416;39095787 False 3 67;33;0 8.46 False ENSG00000162733 ENSG00000162733 HGNC:2731 DDRGK1 gene DDRGK1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557 28263186;35377455;35670300;36243336 False 3 100;0;0 8.46 False ENSG00000198171 ENSG00000198171 HGNC:16110 DHCR24 gene DHCR24 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Desmosterolosis 602398 False 3 67;33;0 8.46 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 8.46 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Miller syndrome (postaxial acrofacial dysostosis) 263750 False 3 67;33;0 8.46 False ENSG00000102967 ENSG00000102967 HGNC:2867 DIS3L2 gene DIS3L2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Perlman syndrome 267000 22306653 False 3 67;33;0 8.46 False ENSG00000144535 ENSG00000144535 HGNC:28648 DLL3 gene DLL3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive 277300 False 3 67;33;0 8.46 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 6, 616589 26299364 False 3 67;33;0 8.46 False ENSG00000128917 ENSG00000128917 HGNC:2910 DLX3 gene DLX3 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amelogenesis imperfecta, type IV 104510;Trichodontoosseous syndrome 190320 26104267;26762616 False 3 67;33;0 8.46 False ENSG00000064195 ENSG00000064195 HGNC:2916 DLX5 gene DLX5 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Split-hand/foot malformation 1 with sensorineural hearing loss, OMIM:220600;Split-hand/foot malformation 1, OMIM:183600 27085093 False 3 67;33;0 8.46 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMP1 gene DMP1 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Multiple synostoses syndrome 2, 610017; Chondrodysplasia, Grebe type, 200700; Brachydactyly, type C, 113100;Hypophosphatemic rickets, AR, 241520; Brachydactyly, type A1, C, 615072; Brachydactyly, type A2, 112600;Acromesomelic dysplasia, Hunter-Thompson type, 201250; {Osteoarthritis-5}, 612400;Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1); skeletal dysplasias;Osteogenesis Imperfecta and Decreased Bone Density; Du Pan syndrome, 228900; Symphalangism, proximal, 1B, 615298; Hypophosphatemic rickets, AR, 241520 False 3 75;25;0 8.46 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNMT3A gene DNMT3A Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tatton-Brown-Rahman syndrome 615879 False 3 67;33;0 8.46 False ENSG00000119772 ENSG00000119772 HGNC:2978 DOCK6 gene DOCK6 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Adams-Oliver syndrome 2 614219;Adams-Oliver syndrome 2 614219" False 3 67;33;0 8.46 False ENSG00000130158 ENSG00000130158 HGNC:19189 DPAGT1 gene DPAGT1 Expert list;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates 614750;UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) 12872255;22304930;30653653 False 3 100;0;0 8.46 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 23856421;10642602;15669674 False 3 67;33;0 8.46 False ENSG00000000419 ENSG00000000419 HGNC:3005 DVL1 gene DVL1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Robinow syndrome, autosomal dominant 2 616331;Robinow syndrome, autosomal dominant 2 616331" 25817016;25817014 False 3 67;33;0 8.46 False ENSG00000107404 ENSG00000107404 HGNC:3084 DVL2 gene DVL2 Expert Review;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant Robinow sydrome;Robinow syndrome, MONDO:0019978 35047859;33599851;30521570 False 3 100;0;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000004975 ENSG00000004975 HGNC:3086 DVL3 gene DVL3 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 26924530 False 3 67;33;0 8.46 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease 223800;Smith-McCort dysplasia 607326 False 3 67;33;0 8.46 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 21211617 False 3 75;25;0 8.46 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal SRTD15 #617088;SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY;SRTD15 #617088 False 3 67;33;0 8.46 True ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked dominant chondrodysplasia punctata;CDPXLD;MEND syndrome;Chondrodysplasia punctata, X-linked dominant, 302960;MEND syndrome-300960 XLR. False 3 67;33;0 8.46 False ENSG00000147155 ENSG00000147155 HGNC:3133 EED gene EED Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cohen-Gibson syndrome 617561;Cohen-Gibson syndrome 617561" 25787343;27193220;27868325;28229514 False 3 67;33;0 8.46 False ENSG00000074266 ENSG00000074266 HGNC:3188 EFTUD2 gene EFTUD2 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type 610536 16760738;19334086;22305528 False 3 67;33;0 8.46 False ENSG00000108883 ENSG00000108883 HGNC:30858 EIF2AK3 gene EIF2AK3 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Wolcott-Rallison syndrome 226980;Wolcott-Rallison syndrome 226980" False 3 67;33;0 8.46 False ENSG00000172071 ENSG00000172071 HGNC:3255 ENPP1 gene ENPP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatemic rickets, autosomal recessive, 2 613312;Arterial calcification, generalized, of infancy, 1 208000;Cole disease 615522 False 3 67;33;0 8.46 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert list;Expert Review Green;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Adams Oliver syndrome 4 False 3 67;33;0 8.46 False ENSG00000163378 ENSG00000163378 HGNC:28526 ERF gene ERF Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chitayat syndrome - 617180;Craniosynostosis 4 600775 23354439;26097063 False 3 67;33;0 8.46 False ENSG00000105722 ENSG00000105722 HGNC:3444 ERI1 gene ERI1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal spondyloepimetaphyseal dysplasia, MONDO:0100510 37352860 False 3 100;0;0 8.46 False Other ENSG00000104626 ENSG00000104626 HGNC:23994 ESCO2 gene ESCO2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal SC phocomelia syndrome 269000;Roberts syndrome 268300 False 3 67;33;0 8.46 False ENSG00000171320 ENSG00000171320 HGNC:27230 EVC gene EVC Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;ECV1;Ellis-van Creveld Syndrome;Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 False 3 75;25;0 8.46 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500;Weyers acrofacial dysostosis, OMIM:193530 38531627;23220543;19810119;16404586 False 3 80;20;0 8.46 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC6B gene EXOC6B Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395 26669664;30284759;36150098 False 3 100;0;0 8.46 False ENSG00000144036 ENSG00000144036 HGNC:17085 EXT1 gene EXT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "trichorhinophalangeal syndrome type 2 -150230;Exostoses, multiple, type 1 133700;Exostoses, multiple, type 13370" False 3 75;25;0 8.46 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2, OMIM:133701 False 3 75;25;0 8.46 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 28148688;28132690 False 3 50;50;0 8.46 False ENSG00000012232 ENSG00000012232 HGNC:3518 EZH2 gene EZH2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome False 3 67;33;0 8.46 False ENSG00000106462 ENSG00000106462 HGNC:3527 FAM111A gene FAM111A Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gracile bone dysplasia 602361;Kenny-Caffey syndrome, type 2 127000 23684011;23996431;25529582;37023242;34382758 False 3 67;33;0 8.46 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20C gene FAM20C Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Raine syndrome 259775 False 3 67;33;0 8.46 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM46A gene FAM46A Expert Review Green;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVIII, OMIM:617952 29358272 False 3 100;0;0 8.46 False ENSG00000112773 ENSG00000112773 HGNC:18345 FAM58A gene FAM58A Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "STAR syndrome 300707;STAR syndrome 300707" False 3 67;33;0 8.46 False ENSG00000147382 ENSG00000262919 HGNC:28434 FBN1 gene FBN1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital OMIM:121050;congenital contractural arachnodactyly MONDO:0007363 7493032;33571691;25558065;28383543 False 3 67;33;0 8.46 False ENSG00000138829 ENSG00000138829 HGNC:3604 FBXW11 gene FBXW11 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914;neurodevelopmental, jaw, eye, and digital syndrome, MONDO:0030057 31402090 False 3 100;0;0 8.46 False ENSG00000072803 ENSG00000072803 HGNC:13607 FERMT3 gene FERMT3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III 612840;(Moderate osteopetrosis) Kilic SS et al. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol. 2009 Jan, 29(1):117-22. 18709451 False 3 67;33;0 8.46 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGF10 gene FGF10 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome 149730 False 3 67;33;0 8.46 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF16 gene FGF16 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females "Metacarpal 4-5 fusion 309630;Metacarpal 4-5 fusion 309630" False 3 67;33;0 8.46 False ENSG00000196468 ENSG00000196468 HGNC:3672 FGF23 gene FGF23 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypophosphatemic rickets, autosomal dominant 193100;Osteomalacia, tumor-induced;Tumoral calcinosis, hyperphosphatemic, familial 211900 False 3 75;25;0 8.46 False ENSG00000118972 ENSG00000118972 HGNC:3680 FGF4 gene FGF4 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260;Jeune syndrome, MONDO:0018770 40259859;33210601 False 3 100;0;0 8.46 False ENSG00000075388 ENSG00000075388 HGNC:3682 FGF9 gene FGF9 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome 3, OMIM:612961;multiple synostoses syndrome 3, MONDO:0013064 33140402;28730625;19589401;33174625 False 3 60;20;20 8.46 False ENSG00000102678 ENSG00000102678 HGNC:3687 FGFR1 gene FGFR1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 2 with or without anosmia 147950;Encephalocraniocutaneous lipomatosis, somatic mosaism 613001;Pfeiffer syndrome 101600;Trigonocephaly 1 190440;Hartsfield syndrome 615465;Jackson-Weiss syndrome 123150;Osteoglophonic dysplasia 166250 23154428;23812909;25394172 False 3 75;25;0 8.46 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 67;33;0 8.46 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATSHL syndrome, OMIM:610474;camptodactyly-tall stature-scoliosis-hearing loss syndrome, MONDO:0012504 17033969;24864036;27139183;37990933 False 3 80;20;0 8.46 False ENSG00000068078 ENSG00000068078 HGNC:3690 FIG4 gene FIG4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Charcot-Marie-Tooth disease type 4J MONDO:0012640;Yunis Varon syndrome OMIM:216340;Yunis-Varon syndrome MONDO:0008995 False 3 67;33;0 8.46 False ENSG00000112367 ENSG00000112367 HGNC:16873 FKBP10 gene FKBP10 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta, Recessive;Brucks syndrome 1 - 259450;Osteogenesis imperfecta, type XI, 610968;Brucks syndrome;Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 3 75;25;0 8.46 False ENSG00000141756 ENSG00000141756 HGNC:18169 FLNA gene FLNA Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Frontometaphyseal dysplasia 1, OMIM:305620;Melnick-Needles syndrome, OMIM:309350;Otopalatodigital syndrome, type I, OMIM:311300;Otopalatodigital syndrome, type II, OMIM:304120;Terminal osseous dysplasia, OMIM:300244 False 3 67;33;0 8.46 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000136068 ENSG00000136068 HGNC:3755 FN1 gene FN1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondylometaphyseal dysplasia, corner fracture type 184255 29100092;30599297 False 3 50;50;0 8.46 False Other ENSG00000115414 ENSG00000115414 HGNC:3778 FUCA1 gene FUCA1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Fucosidosis 230000 False 3 67;33;0 8.46 False ENSG00000179163 ENSG00000179163 HGNC:4006 FZD2 gene FZD2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Omodysplasia 2, OMIM:164745;Robinow syndrome 29230162;30455931;29383834;29383830;25759469 False 3 67;33;0 8.46 False ENSG00000180340 ENSG00000180340 HGNC:4040 GALNS gene GALNS Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA 253000 False 3 67;33;0 8.46 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial I 211900;Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900 False 3 67;33;0 8.46 False ENSG00000115339 ENSG00000115339 HGNC:4125 GDF5 gene GDF5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil syndrome 1, autosomal dominant 118100;Multiple synostoses syndrome type 4 - 617898. 18425797 False 3 67;33;0 8.46 False ENSG00000156466 ENSG00000156466 HGNC:4221 GHR gene GHR Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laron dwarfism, OMIM:262500;Growth hormone insensitivity, partial, OMIM:604271;Increased responsiveness to growth hormone, OMIM:604271 False 3 50;50;0 8.46 False ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400;Oculodentodigital dysplasia, OMIM:164200;Oculodentodigital dysplasia, autosomal recessive, OMIM:257850;Syndactyly, type III, OMIM:186100 False 3 67;33;0 8.46 False ENSG00000152661 ENSG00000152661 HGNC:4274 GLB1 gene GLB1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type II 230600;GM1-gangliosidosis, type I 230500;GM1-gangliosidosis, type III 230650;Mucopolysaccharidosis type IVB (Morquio) 253010 False 3 67;33;0 8.46 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLI3 gene GLI3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510;Polydactyly, postaxial, types A1 and B, OMIM:174200;Polydactyly, preaxial, type IV, OMIM:174700 32591344 False 3 75;25;0 8.46 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNAS gene GNAS Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia, OMIM:103580;pseudohypoparathyroidism type 1A, MONDO:0007078;Pseudohypoparathyroidism Ib, OMIM:603233;pseudohypoparathyroidism type 1B, MONDO:0011301;Pseudohypoparathyroidism Ic, OMIM:612462;pseudohypoparathyroidism type 1C, MONDO:0012911;McCune-Albright syndrome, somatic, mosaic, OMIM:174800;panostotic fibrous dysplasia, MONDO:0043168;Osseous heteroplasia, progressive, OMIM:166350;ACTH-independent macronodular adrenal hyperplasia. OMIM:219080;ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735;Pseudopseudohypoparathyroidism, OMIM:612463;pseudopseudohypoparathyroidism, MONDO:0012912 False 3 75;25;0 8.46 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNPAT gene GNPAT Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rhizomelic Chondrodysplasia Punctata;RCDP2;Rhizomelic chondrodysplasia punctata type 2;Chondrodysplasia punctata, rhizomelic, type 2, 222765 False 3 67;33;0 8.46 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III alpha/beta 252600;Mucolipidosis II alpha/beta 252500 False 3 67;33;0 8.46 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma 252605 False 3 67;33;0 8.46 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 False 3 67;33;0 8.46 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum 231070 False 3 67;33;0 8.46 False ENSG00000120370 ENSG00000120370 HGNC:25676 GPC6 gene GPC6 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1 258315 False 3 67;33;0 8.46 False ENSG00000183098 ENSG00000183098 HGNC:4454 GPX4 gene GPX4 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type 250220 24706940;32827718;34931062 False 3 80;20;0 8.46 False ENSG00000167468 ENSG00000167468 HGNC:4556 GSC gene GSC Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471;Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471" False 3 67;33;0 8.46 False ENSG00000133937 ENSG00000133937 HGNC:4612 GUSB gene GUSB Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII 253220 False 3 67;33;0 8.46 False ENSG00000169919 ENSG00000169919 HGNC:4696 GZF1 gene GZF1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Larsen syndrome;joint laxity, short stature, and myopia OMIM:617662;joint laxity, short stature, and myopia MONDO:0060556 28475863;33009817 False 3 75;25;0 8.46 False ENSG00000125812 ENSG00000125812 HGNC:15808 HDAC8 gene HDAC8 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000147099 ENSG00000147099 HGNC:13315 HES7 gene HES7 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive 613686 False 3 67;33;0 8.46 False ENSG00000179111 ENSG00000179111 HGNC:15977 HGSNAT gene HGSNAT Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 False 3 67;33;0 8.46 False ENSG00000165102 ENSG00000165102 HGNC:26527 HHAT gene HHAT Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nivelon-Nivelon-Mabille syndrome, OMIM:600092 24784881;30912300;33749989 False 3 50;50;0 8.46 False ENSG00000054392 ENSG00000054392 HGNC:18270 HOXA13 gene HOXA13 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-genital syndrome 140000;Hand-foot-uterus syndrome 140000;Guttmacher syndrome 176305 False 3 67;33;0 8.46 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXD13 gene HOXD13 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 9758628;12649808;17236141 False 3 67;33;0 8.46 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPGD gene HPGD Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cranioosteoarthropathy 259100;Digital clubbing, isolated congenital 119900;Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 False 3 67;33;0 8.46 False ENSG00000164120 ENSG00000164120 HGNC:5154 HS2ST1 gene HS2ST1 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies;Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194 33159882 False 3 50;50;0 8.46 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSPG2 gene HSPG2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 False 3 75;25;0 8.46 False ENSG00000142798 ENSG00000142798 HGNC:5273 ICK gene ICK Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 27069622;19185282 False 3 33;67;0 8.46 False ENSG00000112144 ENSG00000112144 HGNC:21219 IDS gene IDS Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II 309900 False 3 67;33;0 8.46 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih 607014;Mucopolysaccharidosis Is 607016;Mucopolysaccharidosis Ih/s 607015 False 3 67;33;0 8.46 False ENSG00000127415 ENSG00000127415 HGNC:5391 IFIH1 gene IFIH1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Singleton-Merten syndrome 1, OMIM:182250 25620204;28319323 False 3 50;50;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM5 gene IFITM5 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type V 610967 False 3 67;33;0 8.46 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFT122 gene IFT122 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1 218330 False 3 67;33;0 8.46 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 False 3 67;33;0 8.46 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, 615630;SRTD10 False 3 67;33;0 8.46 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly - 617866;?Cranioectodermal dysplasia 3 - 614099 26892345;24027799;28400947;22791528;21378380 False 3 0;100;0 8.46 True ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102;Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 26880018;27466190;30242358;31042281 False 3 33;67;0 8.46 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT80 gene IFT80 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly 611263 False 3 75;25;0 8.46 False ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly -617895;Short-Rib Polydactyly Syndrome 27666822;26275418;28460050;30080953 False 3 33;67;0 8.46 False ENSG00000122970 ENSG00000122970 HGNC:14313 IHH gene IHH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia, OMIM:607778;Brachydactyly, type A1, OMIM:112500 False 3 67;33;0 8.46 False ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKG gene IKBKG Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 False 3 67;33;0 8.46 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL11RA gene IL11RA Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies 614188 21741611 False 3 67;33;0 8.46 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL1RN gene IL1RN Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852 False 3 67;33;0 8.46 False ENSG00000136689 ENSG00000136689 HGNC:6000 IMPAD1 gene IMPAD1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type 614078 False 3 67;33;0 8.46 False ENSG00000104331 ENSG00000104331 HGNC:26019 INPPL1 gene INPPL1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia 258480 False 3 67;33;0 8.46 False ENSG00000165458 ENSG00000165458 HGNC:6080 KAT6B gene KAT6B Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Genitopatellar syndrome 606170;SBBYSS syndrome 603736;GTPTS,Ohdo False 3 50;50;0 8.46 False ENSG00000156650 ENSG00000156650 HGNC:17582 KDELR2 gene KDELR2 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXI, OMIM:619131;Increased susceptibility to fractures;Joint hypermobility;Scoliosis;Bowing of the legs and arms 33053334 False 3 100;0;0 8.46 False ENSG00000136240 ENSG00000136240 HGNC:6305 KIAA0753 gene KIAA0753 Expert Review Green;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia 29138412;28220259;26643951 False 3 100;0;0 8.46 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF22 gene KIF22 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 False 3 67;33;0 8.46 False ENSG00000079616 ENSG00000079616 HGNC:6391 KIF24 gene KIF24 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia 35748595 False 3 100;0;0 8.46 False ENSG00000186638 ENSG00000186638 HGNC:19916 KIF5B gene KIF5B Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted kyphomelic dysplasia, MONDO:0008881 35342932 False 3 100;0;0 8.46 False ENSG00000170759 ENSG00000170759 HGNC:6324 KIF7 gene KIF7 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990;Al-Gazali-Bakalinova syndrome 607131;Hydrolethalus syndrome 2 614120 False 3 67;33;0 8.46 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2D gene KMT2D Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1 - 147920 False 3 50;50;0 8.46 False ENSG00000167548 ENSG00000167548 HGNC:7133 LBR gene LBR Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Pelger-Huet anomaly with mild skeletal anomalies 618019;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly 169400 False 3 67;33;0 8.46 False ENSG00000143815 ENSG00000143815 HGNC:6518 LEMD3 gene LEMD3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melorheostosis with osteopoikilosis 155950 IC;Osteopoikilosis 166700;Buschke-Ollendorff syndrome 166700 False 3 67;33;0 8.46 False ENSG00000174106 ENSG00000174106 HGNC:28887 LFNG gene LFNG Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 16385447;29459493;30196550;30531807;33728697;34645488;37038048;38565611 False 3 50;50;0 8.46 False ENSG00000106003 ENSG00000106003 HGNC:6560 LIFR gene LIFR Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559 False 3 75;25;0 8.46 False ENSG00000113594 ENSG00000113594 HGNC:6597 LMBR1 gene LMBR1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 26749485;11090342 False 3 67;33;0 8.46 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMNA gene LMNA Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Emery-Dreifuss muscular dystrophy 2, 181350;Heart-hand syndrome, Slovenian type 610140;Charcot-Marie-Tooth disease, type 2B1 605588;Emery-Dreifuss muscular dystrophy 3, 616516;Cardiomyopathy, dilated, 1A 115200;Hutchinson-Gilford progeria 176670;Mandibuloacral dysplasia 248370;Lipodystrophy, familial partial, 2 151660;Restrictive dermopathy, lethal 275210;Foundation Trust) Mandibuloacral dysplasia 248370;616516;Muscular dystrophy, congenital 613205;Muscular dystrophy, limb-girdle, type 1B 159001;Malouf syndrome 212112" False 3 67;33;0 8.46 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMX1B gene LMX1B Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Nail-patella syndrome 161200;Nail-patella syndrome 161200" False 3 75;25;0 8.46 False ENSG00000136944 ENSG00000136944 HGNC:6654 LONP1 gene LONP1 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 False 3 67;33;0 8.46 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN2 gene LPIN2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628;Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia 29912021 False 3 67;33;0 8.46 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRP4 gene LRP4 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 2 614305;Cenani-Lenz syndactyly syndrome 212780 False 3 67;33;0 8.46 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Exudative vitreoretinopathy 4 601813;[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 67;33;0 8.46 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRRK1 gene LRRK1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteosclerotic metaphyseal dysplasia (OSMD), OMIM: 615198;Osteosclerotic metaphyseal dysplasia, MONDO:0014080 27829680;27055475;31571209;32119750 False 3 100;0;0 8.46 False ENSG00000154237 ENSG00000154237 HGNC:18608 LTBP1 gene LTBP1 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal inherited cutis laxa MONDO:0100237;Cutis laxa, autosomal recessive, type IIE, OMIM:619451 33991472 False 3 100;0;0 8.46 False ENSG00000049323 ENSG00000049323 HGNC:6714 LTBP3 gene LTBP3 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Geleophysic dysplasia 3, OMIM:617809;Dental anomalies and short stature, OMIM:610216;geleophysic dysplasia 3, MONDO:0054722, 27068007;19213025;25899461;25669657;19344874;8721563;33082559 False 3 67;33;0 8.46 False ENSG00000168056 ENSG00000168056 HGNC:6716 MAFB gene MAFB Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome 166300 2387013;30305815;30430035 False 3 67;33;0 8.46 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAN2B1 gene MAN2B1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 248500 False 3 67;33;0 8.46 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAP3K7 gene MAP3K7 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontometaphyseal dysplasia 2, 617137 27426733 False 3 67;33;0 8.46 True Other - please provide details in the comments ENSG00000135341 ENSG00000135341 HGNC:6859 MASP1 gene MASP1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1 - 257920 False 3 50;50;0 8.46 False ENSG00000127241 ENSG00000127241 HGNC:6901 MATN3 gene MATN3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MED;multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Dominant;Disproportionate Short Stature;Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600;Spondyloepimetaphyseal dysplasia, 608728; Spondyloepimetaphyseal dysplasia, 608728 11479597;30080953;15121775;16199550;16287128 False 3 75;25;0 8.46 False ENSG00000132031 ENSG00000132031 HGNC:6909 MBTPS1 gene MBTPS1 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia;?Spondyloepiphyseal dysplasia, Kondo-Fu type OMIM:618392;spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721 32857899;32420688;30046013;31070020 False 3 100;0;0 8.46 False ENSG00000140943 ENSG00000140943 HGNC:15456 MEGF8 gene MEGF8 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2 614976 False 3 67;33;0 8.46 False ENSG00000105429 ENSG00000105429 HGNC:3233 MEOX1 gene MEOX1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2 214300 False 3 67;33;0 8.46 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESD gene MESD Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XX, OMIM:618644;Osteogenesis imperfecta, type 20, MONDO:0032846 31564437 False 3 100;0;0 8.46 False ENSG00000117899 ENSG00000117899 HGNC:13520 MESP2 gene MESP2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive 608681 15122512;18485326 False 3 67;33;0 8.46 False ENSG00000188095 ENSG00000188095 HGNC:29659 MGP gene MGP Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Keutel syndrome, OMIM:245150;spondyloepiphyseal dysplasia, MONDO:0016761 37923733 False 3 75;25;0 8.46 False ENSG00000111341 ENSG00000111341 HGNC:7060 MKKS gene MKKS Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 6, 605231;McKusick-Kaufman syndrome, 236700 False 3 0;0;0 8.46 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1 249000;Bardet-Biedl syndrome 13 615990 False 3 67;33;0 8.46 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMP13 gene MMP13 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal anadysplasia 1 602111;Spondyloepimetaphyseal dysplasia, Missouri type 602111;Metaphyseal dysplasia, Spahr type - 250400 24648384 False 3 67;33;0 8.46 False ENSG00000137745 ENSG00000137745 HGNC:7159 MMP2 gene MMP2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Multicentric osteolysis, nodulosis, and arthropathy 259600 False 3 67;33;0 8.46 False ENSG00000087245 ENSG00000087245 HGNC:7166 MNX1 gene MNX1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome 176450 False 3 67;33;0 8.46 False ENSG00000130675 ENSG00000130675 HGNC:4979 MPDU1 gene MPDU1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180 False 3 67;33;0 8.46 False ENSG00000129255 ENSG00000129255 HGNC:7207 MSX2 gene MSX2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis, type 2 604757;Parietal foramina with cleidocranial dysplasia 168550;Parietal foramina 1 168500 False 3 67;33;0 8.46 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTX2 gene MTX2 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia;Mandibuloacral dysplasia;lipodystrophy;arterial calcification;Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 32917887 False 3 100;0;0 8.46 False ENSG00000128654 ENSG00000128654 HGNC:7506 MYCN gene MYCN Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 False 3 67;33;0 8.46 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYH3 gene MYH3 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469;contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, MONDO:0008338 25957469;27381093;28205584;29314551;29805041;35169139 False 3 100;0;0 8.46 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYO18B gene MYO18B Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 25748484;31195167;32184166;32637634;33179433 False 3 50;50;0 8.46 False ENSG00000133454 ENSG00000133454 HGNC:18150 NAGLU gene NAGLU Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 False 3 67;33;0 8.46 False ENSG00000108784 ENSG00000108784 HGNC:7632 NANS gene NANS Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442;Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 27213289 False 3 67;33;0 8.46 True ENSG00000095380 ENSG00000095380 HGNC:19237 NBAS gene NBAS Expert Review Green;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 27789416 False 3 0;0;0 8.46 False ENSG00000151779 ENSG00000151779 HGNC:15625 NEK1 gene NEK1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short rib thoracic dysplasia 6 with or without polydactyly - 263520;SRPS type 2 (Majewski);Short Rib Polydactyly Syndrome;Short rib-polydactyly syndrome, type IIA, 263520 False 3 75;25;0 8.46 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEPRO gene NEPRO Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 3, OMIM:618853 26633546;29620724;31250547;37294112 False 3 67;33;0 8.46 False ENSG00000163608 ENSG00000163608 HGNC:24496 NEU1 gene NEU1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550 False 3 67;33;0 8.46 False ENSG00000204386 ENSG00000204386 HGNC:7758 NF1 gene NF1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurofibromatosis, type 1 162200;Neurofibromatosis, type 1 162200;Neurofibromatosis, familial spinal 162210;Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis, familial spinal 162210;Neurofibromatosis-Noonan syndrome 601321" False 3 67;33;0 8.46 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIX gene NFIX Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marshall-Smith syndrome 602535;Sotos syndrome 2 614753 False 3 67;33;0 8.46 False ENSG00000008441 ENSG00000008441 HGNC:7788 NIPBL gene NIPBL Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 29379197;29440723 False 3 67;33;0 8.46 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKX3-2 gene NKX3-2 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 False 3 67;33;0 8.46 False ENSG00000109705 ENSG00000109705 HGNC:951 NLRP3 gene NLRP3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CINCA syndrome, OMIM:607115 False 3 67;33;0 8.46 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOG gene NOG Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH1 gene NOTCH1 Expert Review;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 25963545;25132448;27077170 False 3 50;50;0 8.46 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500;Alagille syndrome 2 610205 False 3 75;25;0 8.46 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPR2 gene NPR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 80;20;0 8.46 False ENSG00000159899 ENSG00000159899 HGNC:7944 NPR3 gene NPR3 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Boudin-Mortier syndrome, OMIM:619543;Boudin-Mortier syndrome, MONDO:0859194 30032985;10468599;35233476;40171685 False 3 100;0;0 8.46 False ENSG00000113389 ENSG00000113389 HGNC:7945 NSD1 gene NSD1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1 117550 False 3 67;33;0 8.46 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000147383 ENSG00000147383 HGNC:13398 NT5E gene NT5E Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Calcification of joints and arteries, OMIM:211800;hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 21288095;26010187;28825389;32522903;34999808;26178434;27045881 False 3 100;0;0 8.46 False ENSG00000135318 ENSG00000135318 HGNC:8021 NXN gene NXN Expert Review;Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 2, OMIM:618529 29276006 False 3 50;50;0 8.46 False ENSG00000167693 ENSG00000167693 HGNC:18008 OBSL1 gene OBSL1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2 612921 False 3 67;33;0 8.46 False ENSG00000124006 ENSG00000124006 HGNC:29092 OFD1 gene OFD1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000046651 ENSG00000046651 HGNC:2567 ORC1 gene ORC1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690 False 3 67;33;0 8.46 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, OMIM:613800 False 3 67;33;0 8.46 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, OMIM:613803 False 3 67;33;0 8.46 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSTM1 gene OSTM1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 259720 False 3 75;25;0 8.46 False ENSG00000081087 ENSG00000081087 HGNC:21652 P3H1 gene P3H1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII 610915 False 3 75;25;0 8.46 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert Review;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cole-Carpenter syndrome 1 112240;Cole-Carpenter syndrome 1 112240" 29384951;30063094;25683117 False 3 50;50;0 8.46 False Other ENSG00000185624 ENSG00000185624 HGNC:8548 PAPSS2 gene PAPSS2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 False 3 67;33;0 8.46 False ENSG00000198682 ENSG00000198682 HGNC:8604 PAX3 gene PAX3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniofacial-deafness-hand syndrome, 122880;Waardenburg syndrome, type 1, 193500;Waardenburg syndrome, type 3, 148820 6340503;12949970;7726174;26443304;8447316;11683776;30173992 False 3 100;0;0 8.46 False ENSG00000135903 ENSG00000135903 HGNC:8617 PCNT gene PCNT Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 False 3 67;33;0 8.46 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Spondylometaphyseal dysplasia with cone-rod dystrophy 608940;Spondylometaphyseal dysplasia with cone-rod dystrophy 608940" False 3 67;33;0 8.46 False ENSG00000161217 ENSG00000161217 HGNC:8754 PDE3A gene PDE3A Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, 112410 25961942;9696728 False 3 67;33;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172572 ENSG00000172572 HGNC:8778 PDE4D gene PDE4D Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Acrodysostosis 2, with or without hormone resistance 614613;Acrodysostosis 2, with or without hormone resistance 614613" False 3 67;33;0 8.46 False ENSG00000113448 ENSG00000113448 HGNC:8783 PEX5 gene PEX5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110;Rhizomelic chondrodysplasia punctata, type 5 616716 18712838 False 3 67;33;0 8.46 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1, 215100;Rhizomelic CDP type 1;Rhizomelic chondrodysplasia punctata, type 1, 215100 28742517;25800479;7719337 False 3 67;33;0 8.46 False ENSG00000112357 ENSG00000112357 HGNC:8860 PGM3 gene PGM3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 23 615816;Immunodeficiency 23 615816" 24931394 False 3 33;67;0 8.46 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHEX gene PHEX Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHGDH gene PHGDH Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 False 3 67;33;0 8.46 False ENSG00000092621 ENSG00000092621 HGNC:8923 PIGT gene PIGT Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 29868109;28327575 False 3 67;33;0 8.46 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300 False 3 67;33;0 8.46 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIK3C2A gene PIK3C2A Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome 618440 31034465 False 3 0;100;0 8.46 False ENSG00000011405 ENSG00000011405 HGNC:8971 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome 269880 False 3 67;33;0 8.46 False ENSG00000145675 ENSG00000145675 HGNC:8979 PISD gene PISD Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Liberfarb syndrome, OMIM:618889 31263216;30858161;30488656;3561949 False 3 100;0;0 8.46 False ENSG00000241878 ENSG00000241878 HGNC:8999 PITX1 gene PITX1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800;Liebenberg syndrome 186550 30459804;23022097;23587911 False 3 67;33;0 8.46 False ENSG00000069011 ENSG00000069011 HGNC:9004 PKDCC gene PKDCC Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rhizomelic limb shortening with dysmorphic features, OMIM:618821 30478137;19097194 False 3 50;50;0 8.46 False ENSG00000162878 ENSG00000162878 HGNC:25123 PLOD2 gene PLOD2 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2 609220 False 3 75;25;0 8.46 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert Review;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000102024 ENSG00000102024 HGNC:9091 POC1A gene POC1A Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813;Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813" 26374189;26162852;26336158 False 3 67;33;0 8.46 False ENSG00000164087 ENSG00000164087 HGNC:24488 POLR1A gene POLR1A Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type 616462 25913037 False 3 67;33;0 8.46 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1B gene POLR1B Expert Review Green;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome 4 OMIM:618939;treacher collins syndrome 4 MONDO:0030067 31649276 False 3 100;0;0 8.46 False ENSG00000125630 ENSG00000125630 HGNC:20454 POLR1C gene POLR1C Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 3 248390 False 3 67;33;0 8.46 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2 613717 False 3 67;33;0 8.46 False ENSG00000186184 ENSG00000186184 HGNC:20422 POP1 gene POP1 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, 617396 28067412;21455487;27380734 False 3 67;33;0 8.46 False ENSG00000104356 ENSG00000104356 HGNC:30129 POR gene POR Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 False 3 67;33;0 8.46 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPIB gene PPIB Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type IX 259440;Osteogenesis imperfecta, type IX 259440" False 3 75;25;0 8.46 False ENSG00000166794 ENSG00000166794 HGNC:9255 PRKAR1A gene PRKAR1A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 1, with or without hormone resistance, OMIM:101800 21651393;22464250;22464252;28804209;23425300;25075981;26763073 False 3 67;33;0 8.46 False Other ENSG00000108946 ENSG00000108946 HGNC:9388 PRKG2 gene PRKG2 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 4, OMIM:619636;Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638 33106379;34782440;34680883 False 3 100;0;0 8.46 False ENSG00000138669 ENSG00000138669 HGNC:9416 PRMT7 gene PRMT7 Expert Review Green;NHS GMS;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 False 3 67;33;0 8.46 True ENSG00000132600 ENSG00000132600 HGNC:25557 PSAT1 gene PSAT1 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2 616038 False 3 67;33;0 8.46 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSMC3 gene PSMC3 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;scoliosis, MONDO:0005392;Acetabular dysplasia, HP:0008807;brachymetatarsy 37256937 False 3 100;0;0 8.46 False ENSG00000165916 ENSG00000165916 HGNC:9549 PSPH gene PSPH Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 False 3 67;33;0 8.46 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTBP1 gene PTBP1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;STAD syndrome, OMIM:621495 40965981 False 3 100;0;0 8.46 False ENSG00000011304 ENSG00000011304 HGNC:9583 PTDSS1 gene PTDSS1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism 151050 False 3 67;33;0 8.46 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTH1R gene PTH1R Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Brachydactyly, type E2 613382;Brachydactyly, type E2 613382" False 3 67;33;0 8.46 False ENSG00000087494 ENSG00000087494 HGNC:9607 PTPN11 gene PTPN11 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Metachondromatosis 156250;LEOPARD syndrome 1 151100;Noonan syndrome 1 163950;LEOPARD syndrome 1 151100" False 3 67;33;0 8.46 False ENSG00000179295 ENSG00000179295 HGNC:9644 PUF60 gene PUF60 Expert Review Green;Literature;NHS GMS;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583;PUF60 syndrome;VRJS;Chromosome 8q24.3 deletion syndrome 27804958;28327570;24140112 False 3 67;33;0 8.46 False ENSG00000179950 ENSG00000179950 HGNC:17042 PYCR1 gene PYCR1 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB 612940;Cutis laxa, autosomal recessive, type IIIB 614438 False 3 67;33;0 8.46 False ENSG00000183010 ENSG00000183010 HGNC:9721 RAB23 gene RAB23 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 201000 False 3 67;33;0 8.46 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB33B gene RAB33B Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2 615222 22652534;16470731;23042644;28127940 False 3 67;33;0 8.46 False ENSG00000172007 ENSG00000172007 HGNC:16075 RASGRP2 gene RASGRP2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects;Bleeding disorder, platelet-type, 18 615888 24958846;18709451 False 3 67;33;0 8.46 False ENSG00000068831 ENSG00000068831 HGNC:9879 RBM8A gene RBM8A Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome 274000 False 3 67;33;0 8.46 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, 614814 28160419;22883147;29924900 False 3 33;67;0 8.46 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, OMIM:218600;RAPADILINO syndrome, OMIM:266280;Rothmund-Thomson syndrome, type 2, OMIM:268400 False 3 67;33;0 8.46 False ENSG00000160957 ENSG00000160957 HGNC:9949 RFT1 gene RFT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015 False 3 67;33;0 8.46 False ENSG00000163933 ENSG00000163933 HGNC:30220 RINT1 gene RINT1 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal liver failure;short stature;skeletal abnormalities;Infantile liver failure syndrome 3 OMIM:618641;infantile liver failure syndrome 3 MONDO:0032844 31204009 False 3 100;0;0 8.46 False ENSG00000135249 ENSG00000135249 HGNC:21876 RIPPLY2 gene RIPPLY2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 6, OMIM:616566;spondylocostal dysostosis 6, autosomal recessive, MONDO:0014694 26238661;25343988;32212228;33410135 False 3 50;50;0 8.46 False ENSG00000203877 ENSG00000203877 HGNC:21390 RMRP gene RMRP Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia 250250;Anauxetic dysplasia 607095;Metaphyseal dysplasia without hypotrichosis 250460 False 3 67;33;0 8.46 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNU4ATAC gene RNU4ATAC Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome, OMIM:226960;Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710;Roifman syndrome, OMIM:616651 False 3 67;33;0 8.46 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1, OMIM:113000 (AD);Robinow syndrome, autosomal recessive, OMIM:268310 (AR) False 3 67;33;0 8.46 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Meckel syndrome 5 611561;Joubert syndrome 7 611560 False 3 67;33;0 8.46 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL13 gene RPL13 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728 31630789 False 3 100;0;0 8.46 False ENSG00000167526 ENSG00000167526 HGNC:10303 RSPRY1 gene RSPRY1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 26365341;30063090;38562122;39940902 False 3 100;0;0 8.46 False ENSG00000159579 ENSG00000159579 HGNC:29420 RUNX2 gene RUNX2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000124813 ENSG00000124813 HGNC:10472 SALL1 gene SALL1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 False 3 67;33;0 8.46 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Okihiro (Duane-radial ray) syndrome 607323;IVIC syndrome 147750 False 3 67;33;0 8.46 False ENSG00000101115 ENSG00000101115 HGNC:15924 SBDS gene SBDS Expert list;Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Shwachman-Diamond syndrome 260400;Shwachman-Diamond syndrome 260400" False 3 67;33;0 8.46 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCARF2 gene SCARF2 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome 600920 False 3 67;33;0 8.46 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCUBE3 gene SCUBE3 Expert Review Green;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184;short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 33308444 False 3 100;0;0 8.46 False ENSG00000146197 ENSG00000146197 HGNC:13655 SEC24D gene SEC24D Expert Review;Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis Imperfecta, Cole Carpenter syndrome;Cole-Carpenter syndrome;SYNDROMIC OSTEOGENESIS IMPERFECTA 25683121 False 3 50;50;0 8.46 False ENSG00000150961 ENSG00000150961 HGNC:10706 SERPINF1 gene SERPINF1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, 613982;osteogenesis imperfecta;OI/osteoporosis;Osteogenesis Imperfecta, Recessive False 3 67;33;0 8.46 False ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal 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 25510505;20188343 False 3 50;50;0 8.46 False ENSG00000149257 ENSG00000149257 HGNC:1546 SETD2 gene SETD2 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Luscan-Lumish syndrome 616831;Luscan-Lumish syndrome 616831" False 3 67;33;0 8.46 False ENSG00000181555 ENSG00000181555 HGNC:18420 SETD5 gene SETD5 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 23, OMIM:615761;skeletal dysplasia, MONDO:0018230;facial dysmorphism 24680889;28881385 False 3 100;0;0 8.46 False ENSG00000168137 ENSG00000168137 HGNC:25566 SF3B4 gene SF3B4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type 154400 False 3 67;33;0 8.46 False ENSG00000143368 ENSG00000143368 HGNC:10771 SFRP4 gene SFRP4 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal PYL;Metaphyseal dysplasia;Pyle disease 265900 27355534;26273529;20174869;27117872;22965941;28100910;24096177;22387305 False 3 50;50;0 8.46 False ENSG00000106483 ENSG00000106483 HGNC:10778 SGMS2 gene SGMS2 Expert list;Expert Review Green Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550;calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470 30779713;32028018 False 3 100;0;0 8.46 False ENSG00000164023 ENSG00000164023 HGNC:28395 SGSH gene SGSH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 False 3 67;33;0 8.46 False ENSG00000181523 ENSG00000181523 HGNC:10818 SH3BP2 gene SH3BP2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism, OMIM:118400 False 3 67;33;0 8.46 False ENSG00000087266 ENSG00000087266 HGNC:10825 SH3PXD2B gene SH3PXD2B Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome 249420 False 3 67;33;0 8.46 False ENSG00000174705 ENSG00000174705 HGNC:29242 SHOX gene SHOX Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582;Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shortening False 3 75;25;0 8.46 False ENSG00000185960 ENSG00000185960 HGNC:10853 SKI gene SKI Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome 182212 False 3 67;33;0 8.46 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC10A7 gene SLC10A7 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal skeletal dysplasia and amelogenesis imperfecta;Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 30082715;30082715 False 3 0;0;0 8.46 False ENSG00000120519 ENSG00000120519 HGNC:23088 SLC13A1 gene SLC13A1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal impaired sulfate transport and skeletal dysplasia 39925707 False 3 100;0;0 8.46 False ENSG00000081800 ENSG00000081800 HGNC:10916 SLC17A5 gene SLC17A5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Salla disease, OMIM:604369;Sialic acid storage disorder, infantile, OMIM:269920 False 3 67;33;0 8.46 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC26A2 gene SLC26A2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ACG1B,DD,rMED;multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Recessive;Epiphyseal dysplasia, multiple, 4 False 3 75;25;0 8.46 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC29A3 gene SLC29A3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 False 3 67;33;0 8.46 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC34A1 gene SLC34A1 Expert Review Green;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 12324554;9560283;25050900 False 3 100;0;0 8.46 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria 241530 False 3 67;33;0 8.46 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35C1 gene SLC35C1 Expert Review Green;Other Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc 266265;GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 11326280;12476046 False 3 0;0;0 8.46 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Schneckenbecken dysplasia 269250;Schneckenbecken dysplasia 269250" False 3 67;33;0 8.46 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC39A13 gene SLC39A13 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 False 3 67;33;0 8.46 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLCO2A1 gene SLCO2A1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441;hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756;Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100;hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172 23509104;27134495;33852188;22331663;27134495 False 3 83;17;0 8.46 False ENSG00000174640 ENSG00000174640 HGNC:10955 SMAD3 gene SMAD3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3 613795 False 3 67;33;0 8.46 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Myhre syndrome 139210;Myhre syndrome 139210" False 3 67;33;0 8.46 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMAD6 gene SMAD6 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Radioulnar synostosis, nonsyndromic}, OMIM:179300 31138930 False 3 100;0;0 8.46 False ENSG00000137834 ENSG00000137834 HGNC:6772 SMARCAL1 gene SMARCAL1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 False 3 67;33;0 8.46 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMC1A gene SMC1A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370 False 3 67;33;0 8.46 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3 610759 False 3 67;33;0 8.46 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMOC1 gene SMOC1 Expert Review;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Microphthalmia with limb anomalies 206920;Ophthalmo-acromelic syndrome;Polydactyly 21194678;21194680 False 3 50;50;0 8.46 False ENSG00000198732 ENSG00000198732 HGNC:20318 SNRPB gene SNRPB Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebrocostomandibular syndrome 117650 False 3 67;33;0 8.46 False ENSG00000125835 ENSG00000125835 HGNC:11153 SNX10 gene SNX10 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 615085 23280965 False 3 67;33;0 8.46 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOST gene SOST Expert;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniodiaphyseal dysplasia, autosomal dominant 122860;Van Buchem disease 239100;Sclerosteosis 1 269500 False 3 67;33;0 8.46 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX9 gene SOX9 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia with autosomal sex reversal 114290;Acampomelic campomelic dysplasia 114290;Campomelic dysplasia 114290 False 3 75;25;0 8.46 False ENSG00000125398 ENSG00000125398 HGNC:11204 SP7 gene SP7 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII 613849 2057926;29382611 False 3 50;50;0 8.46 False ENSG00000170374 ENSG00000170374 HGNC:17321 SPARC gene SPARC Expert list;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII, OMIM:616507 26027498;34462290 False 3 100;0;0 8.46 False ENSG00000113140 ENSG00000113140 HGNC:11219 STT3A gene STT3A Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 34653363 False 3 100;0;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134910 ENSG00000134910 HGNC:6172 SUMF1 gene SUMF1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 272200 False 3 67;33;0 8.46 False ENSG00000144455 ENSG00000144455 HGNC:20376 TALDO1 gene TALDO1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 606003 26238251;25388407 False 3 67;33;0 8.46 False ENSG00000177156 ENSG00000177156 HGNC:11559 TAPT1 gene TAPT1 Expert Review;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897" 26365339 False 3 0;0;0 8.46 False ENSG00000169762 ENSG00000169762 HGNC:26887 TBCE gene TBCE Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Kenny-Caffey syndrome, type 1 244460.;Hypoparathyroidism-retardation-dysmorphism syndrome 241410;Kenny-Caffey syndrome, type 1 244460 False 3 67;33;0 8.46 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBX15 gene TBX15 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cousin syndrome 260660 24039145 False 3 67;33;0 8.46 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX3 gene TBX3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome 181450 28961683;30654152;28145909 False 3 67;33;0 8.46 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 False 3 67;33;0 8.46 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome 142900 False 3 67;33;0 8.46 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBX6 gene TBX6 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spondylocostal dysostosis 5 122600;Spondylocostal dysostosis 5 122600" False 3 67;33;0 8.46 False ENSG00000149922 ENSG00000149922 HGNC:11605 TBXAS1 gene TBXAS1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, OMIM:231095 False 3 67;33;0 8.46 False ENSG00000059377 ENSG00000059377 HGNC:11609 TCIRG1 gene TCIRG1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 259700 False 3 75;25;0 8.46 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCOF1 gene TCOF1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1 154500 False 3 67;33;0 8.46 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405;Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 26044572;25830415 False 3 67;33;0 8.46 True ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN2 gene TCTN2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24 616654;Meckel syndrome 8 613885 False 3 67;33;0 8.46 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IV 258860;Joubert syndrome 18 614815 22883145 False 3 67;33;0 8.46 False ENSG00000119977 ENSG00000119977 HGNC:24519 TERT gene TERT Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 False 3 67;33;0 8.46 False ENSG00000164362 ENSG00000164362 HGNC:11730 TGFB1 gene TGFB1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Camurati-Engelmann disease, OMIM:131300 False 3 67;33;0 8.46 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB2 gene TGFB2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4 614816 False 3 67;33;0 8.46 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFBR2 gene TGFBR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2 610168 False 3 67;33;0 8.46 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMCO1 gene TMCO1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980;Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980" 24424126 False 3 67;33;0 8.46 False ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM165 gene TMEM165 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727 False 3 67;33;0 8.46 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM216 gene TMEM216 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2 603194;Joubert syndrome 2 608091 False 3 67;33;0 8.46 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20 614970;Meckel syndrome 11 615397 False 3 67;33;0 8.46 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM38B gene TMEM38B Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV, OMIM:615066;Osteogenesis imperfecta type 14, MONDO:0014029 False 3 67;33;0 8.46 False ENSG00000095209 ENSG00000095209 HGNC:25535 TNFRSF11A gene TNFRSF11A Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteolysis, familial expansile 174810;Osteopetrosis, autosomal recessive 7 612301;Paget disease of bone 2, early-onset 602080 False 3 75;25;0 8.46 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF11B gene TNFRSF11B Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Paget disease of bone 5, juvenile-onset 239000;Paget disease of bone 5, juvenile-onset 239000" False 3 67;33;0 8.46 False ENSG00000164761 ENSG00000164761 HGNC:11909 TNFSF11 gene TNFSF11 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 259710 False 3 75;25;0 8.46 False ENSG00000120659 ENSG00000120659 HGNC:11926 TOMM7 gene TOMM7 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601;Garg-Mishra progeroid syndrome, MONDO:0957953 36282599;36299998;39333057 False 3 50;50;0 8.46 False ENSG00000196683 ENSG00000196683 HGNC:21648 TONSL gene TONSL Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510;spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068 32959051;30773278;30773277 False 3 100;0;0 8.46 False ENSG00000160949 ENSG00000160949 HGNC:7801 TP63 gene TP63 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ADULT syndrome, OMIM:103285;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292;Limb-mammary syndrome, OMIM:603543;Split-hand/foot malformation 4, OMIM:605289 False 3 67;33;0 8.46 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRAPPC2 gene TRAPPC2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females "Spondyloepiphyseal dysplasia tarda 313400;Spondyloepiphyseal dysplasia tarda 313400" False 3 67;33;0 8.46 False ENSG00000196459 ENSG00000196459 HGNC:23068 TREM2 gene TREM2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease 221770 False 3 67;33;0 8.46 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRIP11 gene TRIP11 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal "Achondrogenesis, type IA 200600;Achondrogenesis, type IA 200600" False 3 75;25;0 8.46 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRPS1 gene TRPS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type III 190351;Trichorhinophalangeal syndrome, type I 190350 False 3 75;25;0 8.46 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal 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 75;25;0 8.46 False ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, 618188 29861107 False 3 100;0;0 8.46 True ENSG00000165125 ENSG00000165125 HGNC:14006 TTC21B gene TTC21B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Asphyxiating Thoracic Dystrophy;SRTD4 False 3 67;33;0 8.46 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 8, 615985 False 3 0;0;0 8.46 False ENSG00000165533 ENSG00000165533 HGNC:20087 TWIST1 gene TWIST1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal 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 67;33;0 8.46 False ENSG00000122691 ENSG00000122691 HGNC:12428 TYROBP gene TYROBP Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease 221770 False 3 67;33;0 8.46 False ENSG00000011600 ENSG00000011600 HGNC:12449 UBA2 gene UBA2 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted split hand-foot malformation MONDO:0016576;aplasia cutis congenita (disease) MONDO:0007145;Ectrodactyly 31332306;24243649;29988626;31587267 False 3 50;50;0 8.46 False ENSG00000126261 ENSG00000126261 HGNC:30661 UFSP2 gene UFSP2 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Beukes Hip Dysplasia OMIM:142669;hip dysplasia, Beukes type MONDO:0007726;?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974;spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 28892125;26428751;32755715;33473208 False 3 33;67;0 8.46 False ENSG00000109775 ENSG00000109775 HGNC:25640 UNC45A gene UNC45A Expert list;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, OMIM:619377 29429573 False 3 67;33;0 8.46 False ENSG00000140553 ENSG00000140553 HGNC:30594 VDR gene VDR Expert;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA, 277440 False 3 0;0;0 8.46 False ENSG00000111424 ENSG00000111424 HGNC:12679 VPS33A gene VPS33A Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome, OMIM:617303;mucopolysaccharidosis-plus syndrome, MONDO:0015012 27547915;28013294;31070736;39273517 False 3 100;0;0 8.46 False ENSG00000139719 ENSG00000139719 HGNC:18179 WBP11 gene WBP11 Expert Review Green;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 8.46 False ENSG00000084463 ENSG00000084463 HGNC:16461 WDPCP gene WDPCP Emory Genetics Laboratory;Expert Review Green Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085;?Bardet-Biedl syndrome 15, 615992 25427950;28289185;27158779 False 3 0;0;0 8.46 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 4, 614378;Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Asphyxiating thoracic dystrophy 5, 614376;SRTD5 22019273;24504730 False 3 33;67;0 8.46 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 False 3 67;33;0 8.46 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly 614091;Cranioectodermal dysplasia 2 613610 False 3 67;33;0 8.46 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly 615503 False 3 67;33;0 8.46 False ENSG00000126870 ENSG00000126870 HGNC:21862 WISP3 gene WISP3 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Arthropathy, progressive pseudorheumatoid, of childhood 208230;Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 False 3 67;33;0 8.46 False ENSG00000112761 ENSG00000112761 HGNC:12771 WNT1 gene WNT1 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221;Osteogenesis imperfecta, type XV, OMIM:615220 23499309;23499310;23434763;23656646 False 3 67;33;0 8.46 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, OMIM:225300 24211389 False 3 67;33;0 8.46 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT5A gene WNT5A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1 180700 False 3 67;33;0 8.46 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ulna and fibula, absence of, with severe limb deficiency 276820;Fuhrmann syndrome 228930 False 3 67;33;0 8.46 False ENSG00000154764 ENSG00000154764 HGNC:12786 XRCC4 gene XRCC4 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 False 3 67;33;0 8.46 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 23982343;24581741;22711505;30554721 False 3 75;25;0 8.46 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 605822 26987875 False 3 33;67;0 8.46 False ENSG00000015532 ENSG00000015532 HGNC:15517 YY1 gene YY1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted " Gabriele-de Vries syndrome 617557;Gabriele-de Vries syndrome 617557" 28575647 False 3 67;33;0 8.46 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZMPSTE24 gene ZMPSTE24 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy 608612;Restrictive dermopathy, lethal 275210 False 3 75;25;0 8.46 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF687 gene ZNF687 Expert Review Green;Other;Research Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paget disease of bone 6, OMIM:616833 29493781;26849110 False 3 100;0;0 8.46 False Other ENSG00000143373 ENSG00000143373 HGNC:29277 ZSWIM6 gene ZSWIM6 Expert Review Green;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 8.46 False ENSG00000130449 ENSG00000130449 HGNC:29316 ABL1 gene ABL1 Expert Review Amber;Literature;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations syndrome, 617602 28288113 False 2 50;50;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000097007 ENSG00000097007 HGNC:76 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627;24886560 False 2 33;33;33 8.46 False ENSG00000108641 ENSG00000108641 HGNC:24123 BTRC gene BTRC Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560;split hand-foot malformation 3, MONDO:0009525 19584065;18067070;12913067;16681918;27600068;30622331;35908152;36928426;18392654 False 2 0;100;0 8.46 False Other ENSG00000166167 ENSG00000166167 HGNC:1144 C16orf62 gene C16orf62 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal 3C/Ritscher-Schinzel-like syndrome 31712251 False 2 0;100;0 8.46 False ENSG00000103544 ENSG00000103544 HGNC:24641 CSNK1G1 gene CSNK1G1 Expert Review Amber;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown early-onset epileptic encephalopathy and microcephaly 24463883;33009664 False 2 0;100;0 8.46 False ENSG00000169118 ENSG00000169118 HGNC:2454 DROSHA gene DROSHA Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Cerebral white matter atrophy;Abnormality of the corpus callosum;Abnormality of movement;Stereotypic behavior;Abnormality of head or neck;Short foot 35405010 False 2 33;67;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113360 ENSG00000113360 HGNC:17904 EN1 gene EN1 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ENDOVE syndrome, limb-only type, MIM# 619217;ENDOVE syndrome, limb-brain type, MIM# 619218 33568816 False 2 100;0;0 8.46 False ENSG00000163064 ENSG00000163064 HGNC:3342 FBLN1 gene FBLN1 Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 24084572 False 2 33;67;0 8.46 False ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560;split hand-foot malformation 3, MONDO:0009525 19584065;18067070;12913067;16681918;27600068;30622331;35908152;36928426;18392654 False 2 100;0;0 8.46 False Other - please provide details in the comments ENSG00000107829 ENSG00000107829 HGNC:10847 GNPNAT1 gene GNPNAT1 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Rhizomelic skeletal dysplasia 32591345 False 2 0;100;0 8.46 False ENSG00000100522 ENSG00000100522 HGNC:19980 H2AFY gene H2AFY Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Liebenberg syndrome;brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 23022097;23587911;30711920 False 2 50;50;0 8.46 False ENSG00000113648 ENSG00000113648 HGNC:4740 HDAC4 gene HDAC4 Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Albright hereditary osteodystrophy type 3;Brachydactyly-intellectual disability;Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430;Albright hereditary osteodystrophy-like syndrome;Del(2)(q37) 600430 19365831;15521982;20691407;25402011 False 2 33;67;0 8.46 False ENSG00000068024 ENSG00000068024 HGNC:14063 HEATR3 gene HEATR3 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Anemia;Thrombocytopenia;Growth delay;Short stature;Abnormality of the skeletal system;Abnormality of finger;Abnormality of the thumb;Intellectual disability;Obesity;Abnormality of the face 35213692 False 2 0;100;0 8.46 False ENSG00000155393 ENSG00000155393 HGNC:26087 HNRNPK gene HNRNPK Expert Review Amber;NHS GMS;Other Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orphanet:453499; OMIM:616580;Au-Kline syndrome:616580;Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation;Orphanet:453499 26173930;26638989;26954065 False 2 0;100;0 8.46 False ENSG00000165119 ENSG00000165119 HGNC:5044 IDH1 gene IDH1 Expert Review Amber;NHS GMS Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236 False 2 33;67;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000138413 ENSG00000138413 HGNC:5382 LRRC8C gene LRRC8C Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TIMES syndrome, OMIM:621056 39623139 False 2 0;100;0 8.46 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171488 ENSG00000171488 HGNC:25075 MANBA gene MANBA Expert Review Amber;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Beta-mannosidosis, 248510 2079835;16401745;18980795 False 2 50;50;0 8.46 False ENSG00000109323 ENSG00000109323 HGNC:6831 MBTPS2 gene MBTPS2 Expert list;Expert Review Amber Skeletal dysplasia Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Osteogenesis imperfecta, type XIX, OMIM:301014;osteogenesis imperfecta, type 19, MONDO:0049223 27380894 False 2 33;67;0 8.46 False ENSG00000012174 ENSG00000012174 HGNC:15455 MIA3 gene MIA3 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 32101163;33778321;40948380;40119123;40130161;21606205;34680893 False 2 33;0;67 8.46 False ENSG00000154305 ENSG00000154305 HGNC:24008 MIR17HG gene MIR17HG Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FS2;Brachydactyly with short stature and microcephaly;Microcephaly-oculo-digito-esophageal-duodenal syndrome;Feingold syndrome 2, 614326 25391829;21892160;26360630;19344873 False 2 25;50;25 8.46 False ENSG00000215417 ENSG00000215417 HGNC:23564 MMP9 gene MMP9 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Metaphyseal anadysplasia 2 613073 28342220;19615667 False 2 67;33;0 8.46 False ENSG00000100985 ENSG00000100985 HGNC:7176 NMNAT1 gene NMNAT1 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 32533184;33668384 False 2 50;50;0 8.46 False ENSG00000173614 ENSG00000173614 HGNC:17877 NRCAM gene NRCAM Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 35108495 False 2 100;0;0 8.46 False ENSG00000091129 ENSG00000091129 HGNC:7994 PAM16 gene PAM16 Expert list;Expert Review Amber;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 24786642;27354339 False 2 67;33;0 8.46 False ENSG00000217930 ENSG00000217930 HGNC:29679 PDIA6 gene PDIA6 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes;Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252 33495992;34487921;35856135;40974269 False 2 0;100;0 8.46 False ENSG00000143870 ENSG00000143870 HGNC:30168 PFN1 gene PFN1 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paget s disease of bone;bone Paget disease MONDO:0005382 32392277;31991009;31346562;32589291;22801503 False 2 0;100;0 8.46 False ENSG00000108518 ENSG00000108518 HGNC:8881 PLEKHM1 gene PLEKHM1 Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 6 - 611497;Osteopetrosis, autosomal recessive 6 611497;Osteopetrosis, autosomal dominant 3 - 618107 17404618;27291868;17997709;21054159;28290981;32415263 False 2 50;50;0 8.46 False ENSG00000225190 ENSG00000225190 HGNC:29017 RAD21 gene RAD21 Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, OMIM:614701 22633399;30716475;24378232;27882533;27620904;31334757;32193685 False 2 67;33;0 8.46 False ENSG00000164754 ENSG00000164754 HGNC:9811 SCNM1 gene SCNM1 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, OMIM:620107;orofaciodigital syndrome 19, MONDO:0859310 36084634;41291844 False 2 100;0;0 8.46 False ENSG00000163156 ENSG00000163156 HGNC:23136 SIK3 gene SIK3 Expert Review Amber;NHS GMS Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162;spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571 30232230;22318228 False 2 33;67;0 8.46 False ENSG00000160584 ENSG00000160584 HGNC:29165 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Abnormality of the skeletal system;Short long bone;Short stature;Abnormality of epiphysis morphology;Scoliosis;Multiple joint dislocation;Global develpmental delay;Intellectual disability;CNS hypomyelination;Abnormality of the corpus callosum;Cerebral atrophy;Abnormality of the amniotic fluid 35325049 False 2 0;100;0 8.46 False ENSG00000157593 ENSG00000157593 HGNC:16872 SUCO gene SUCO Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, MONDO:0019019;skeletal dysplasia, HP:0002652;osteopenia 29620724;20440000 False 2 0;100;0 8.46 False ENSG00000094975 ENSG00000094975 HGNC:1240 TMEM251 gene TMEM251 Expert Review Amber;Literature Skeletal dysplasia Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Dysostosis multiplex, Ain-Naz type, OMIM:19345;severe short stature 33252156 False 2 0;100;0 8.46 False ENSG00000153485 ENSG00000153485 HGNC:20218 ISCA-37394-Loss region NHS GMS;Expert Review Green;ClinGen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination;600430 25402011;23188045;30848064 False 3 0;0;0 8.46 False 2 239032997 241988449 3 60 cnv_loss 2q37.3 terminal region (includes HDAC4) Loss ISCA-37406-Loss region NHS GMS;Expert Review Green;ClinGen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543 10573006;16783566 False 3 0;0;0 8.46 False 16 3725055 3880120 3 60 cnv_loss 16p13.3 region (includes CREBBP) Loss ISCA-37418-Loss region NHS GMS;Expert Review Green;ClinGen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Potocki-Lupski syndrome;hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders;Smith-Magenis syndrome;Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance;182290;moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems;hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies;Dental abnormalities False 3 0;0;0 8.46 False 17 16906714 20309889 3 60 cnv_loss 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37434-Loss region NHS GMS;Expert Review Green;ClinGen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown posteriorly rotated, low-set, abnormal ears;brachycephaly;epicanthus;heart defects;pointed chin;deep-set eyes;microcephaly;hypotonia;seizures;poor/absent speech;central nervous system anomalies;large anterior fontanels;microbrachycephaly;mental retardation;growth impairment;large, late-closing anterior fontanel;flat nose;nasal bridge;developmental delay;hearing impairment;distinct dysmorphic features;1p36 deletion syndrome;607872 17918734;22766398;18245432 False 3 0;0;0 8.46 False 1 898703 6229913 3 60 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37441-Loss region NHS GMS;Expert Review Green;ClinGen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Potocki-Shaffer syndrome;multiple exostoses;biparietal foramina;intellectual disability;strabismus;minor craniofacial anomalies;myopia;ophthalmologic anomalies;601224;mental retardation;enlarged anterior fontanel;genital abnormalities in males;parietal foramina;developmental delay 15852040;16319823;20140962 False 3 0;0;0 8.46 False 11 43873250 46130899 3 60 cnv_loss 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37447-Loss region Expert Review Green;ClinGen Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Kagami-Ogata syndrome, OMIM:608149;Temple syndrome, OMIM:616222 20585555;24801763;27406249;33579810;18176563;28640239 False 3 100;0;0 8.46 False 14 100724515 100833215 3 60 cnv_loss DLK1-MEG3 Intergenic Region Loss ISCA-37501-Loss region Expert Review Green;Expert list Skeletal dysplasia Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 17q23.1-q23.2 deletion syndrome, 613355;PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities;PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss 20206336;22052739 False 3 100;0;0 8.46 False 17 60035641 62198448 3 60 cnv_loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss