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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome);Hypertrichotic osteochondrodysplasia 239850" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000069431 ENSG00000069431 HGNC:60 ABL1 gene ABL1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations syndrome, 617602 Skeletal dysplasia;HP:0002652 28288113;30855488;32643838 False 3 100;0;0 0.302 True 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 ACAN gene ACAN Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, Kimberley type 608361;Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800;Spondyloepimetaphyseal dysplasia, aggrecan type 61283 Skeletal dysplasia;HP:0002652 24762113 False 3 100;0;0 0.302 False ENSG00000157766 ENSG00000157766 HGNC:319 ACP5 gene ACP5 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation 607944 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000102575 ENSG00000102575 HGNC:124 ACVR1 gene ACVR1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva 135100 Skeletal dysplasia;HP:0002652 16642017;29089047 False 3 100;0;0 0.302 True ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS10 gene ADAMTS10 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive, 277600 Skeletal dysplasia;HP:0002652 19836009;30060141;15368195 False 3 100;0;0 0.302 False ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome type 4 Skeletal dysplasia;HP:0002652 19836009;31019231;22486325;24940034 False 3 100;0;0 0.302 False ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTSL2 gene ADAMTSL2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1 231050 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000197859 ENSG00000197859 HGNC:14631 AFF3 gene AFF3 Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 Skeletal dysplasia;HP:0002652 31388108;33961779 False 3 100;0;0 0.302 True ENSG00000144218 ENSG00000144218 HGNC:6473 AFF4 gene AFF4 Expert Review Green;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHOPS syndrome MIM#616368 Skeletal dysplasia;HP:0002652 25730767;31058441 False 3 100;0;0 0.302 True Other ENSG00000072364 ENSG00000072364 HGNC:17869 AGA gene AGA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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) Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000038002 ENSG00000038002 HGNC:318 AGPS gene AGPS Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121;Rhizomelic chondrodysplasia punctata, type 3 600121" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000018510 ENSG00000018510 HGNC:327 ALG12 gene ALG12 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG3 gene ALG3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG9 gene ALG9 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Gillessen-Kaesbach-Nishimura syndrome 263210;Congenital disorder of glycosylation, type Il 608776;Gillessen-Kaesbach-Nishimura syndrome 263210" Skeletal dysplasia;HP:0002652 25966638 False 3 100;0;0 0.302 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALPL gene ALPL Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult 146300 (AD, AR);Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR Skeletal dysplasia;HP:0002652 3174660;1409720;19500388;23688511;31413732;30811537 False 3 100;0;0 0.302 True ENSG00000162551 ENSG00000162551 HGNC:438 ALX1 gene ALX1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 3 613456;Frontonasal dysplasia type 3 613456 Skeletal dysplasia;HP:0002652 20451171;27324866 False 3 100;0;0 0.302 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Frontonasal dysplasia 1 136760;Frontonasal dysplasia 1 136760 (frontorhiny) Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Frontonasal dysplasia 2 613451 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000052850 ENSG00000052850 HGNC:450 AMER1 gene AMER1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000184675 ENSG00000184675 HGNC:26837 ANKH gene ANKH Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrocalcinosis 2 118600;Craniometaphyseal dysplasia 123000 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD11 gene ANKRD11 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome 148050 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO5 gene ANO5 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disproportionate Short Stature;Osteogenesis Imperfecta and Decreased Bone Density;Gnatodiaphyseal dysplasia;skeletal dysplasias Skeletal dysplasia;HP:0002652 28176803;32112655 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome 228600 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000163297 ENSG00000163297 HGNC:21732 ARHGAP31 gene ARHGAP31 Emory Genetics Laboratory;Expert list;Expert Review Green;Genetic Health Queensland;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 1 100300 Skeletal dysplasia;HP:0002652 21565291;29924900 False 3 50;50;0 0.302 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARID1A gene ARID1A Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris Skeletal dysplasia;HP:0002652 22426308;23929686;32888375 False 3 100;0;0 0.302 True ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome type 1 - 135900;Coffin-Siris Skeletal dysplasia;HP:0002652 22426308;23929686;34122524 False 3 100;0;0 0.302 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARL6 gene ARL6 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 3 600151 Skeletal dysplasia;HP:0002652 19858128;15314642;15258860 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200;MONDO:0009661 Skeletal dysplasia;HP:0002652 11668612 False 3 100;0;0 0.302 True ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females CHONDRODYSPLASIA PUNCTATA 1, X-LINKED;X-linked recessive chondrodysplasia punctata;Chondrodysplasia punctata, X-linked recessive, 302950;CDPXL Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000157399 ENSG00000157399 HGNC:719 ARSK gene ARSK Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis MONDO:0019249, ARSK-related Skeletal dysplasia;HP:0002652 34916232;32856704 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bohring-Opitz syndrome 605039 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Shashi-Pena syndrome 617190;Shashi-Pena syndrome 617190" Skeletal dysplasia;HP:0002652 27693232 False 3 100;0;0 0.302 False ENSG00000143970 ENSG00000143970 HGNC:23805 ATP6V0A2 gene ATP6V0A2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IIA 219200;Cutis laxa, autosomal recessive, type IIA 219200" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, distal, 300489;Menkes disease 309400;Occipital horn syndrome 304150 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000165240 ENSG00000165240 HGNC:869 AXIN1 gene AXIN1 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Skeletal dysplasia;HP:0002652 PMID: 37582359 False 3 100;0;0 0.302 True ENSG00000103126 ENSG00000103126 HGNC:903 B3GALT6 gene B3GALT6 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, progeroid type, 2 615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Larsen alike phenotype (skd incl);Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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) Skeletal dysplasia;HP:0002652 23889335;16909395 False 3 100;0;0 0.302 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT7 gene B4GALT7 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000027847 ENSG00000027847 HGNC:930 BBS1 gene BBS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 1 209900 Skeletal dysplasia;HP:0002652 11567139;12118255;12677556;12567324;12524598;23143442 False 3 100;0;0 0.302 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10, 615987;Polydactyly Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12, 615989;Polydactyly Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 2, 615981 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982;Polydactyly Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 5, 615983 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984;Polydactyly Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet Biedl syndrome 9, 615986 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000122507 ENSG00000122507 HGNC:30000 BGN gene BGN Expert list;Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106 Skeletal dysplasia;HP:0002652 27236923 False 3 100;0;0 0.302 True ENSG00000182492 ENSG00000182492 HGNC:1044 BHLHA9 gene BHLHA9 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000205899 ENSG00000205899 HGNC:35126 BMP1 gene BMP1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII, 614856 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000168487 ENSG00000168487 HGNC:1067 BMP2 gene BMP2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {HFE hemochromatosis, modifier of} 235200;short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.;Brachydactyly, type A2 112600 Skeletal dysplasia;HP:0002652 19327734;29198724;21357617 False 3 100;0;0 0.302 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMPER gene BMPER Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis 608022 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type A1, D 616849;Acromesomelic dysplasia, Demirhan type 609441;Brachydactyly, type A2 112600 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000138696 ENSG00000138696 HGNC:1077 C21orf2 gene C21orf2 Expert list;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Axial Spondylometaphyseal Dysplasia 602271;Spondylometaphyseal dysplasia, axial 602271 Skeletal dysplasia;HP:0002652 26974433 False 3 100;0;0 0.302 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV 615948 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000168014 ENSG00000168014 HGNC:24564 CA2 gene CA2 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000104267 ENSG00000104267 HGNC:1373 CANT1 gene CANT1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal multiple epiphyseal dysplasia type 7, 617719.;Desbuquois dysplasia 1 251450 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000171302 ENSG00000171302 HGNC:19721 CASR gene CASR Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalcemia, autosomal dominant, with Bartter syndrome 601198;Hypocalcemia, autosomal dominant 601198;Hyperparathyroidism, neonatal 239200;Hypocalciuric hypercalcemia, type I 145980 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBFB gene CBFB Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cleidocranial dysplasia (MONDO#0007340), CBFB-related Skeletal dysplasia;HP:0002652 36241386 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6 612284 Skeletal dysplasia;HP:0002652 24706459;18513680;23351400 False 3 100;0;0 0.302 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC8 gene CCDC8 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, 614205 Skeletal dysplasia;HP:0002652 21737058 False 3 100;0;0 0.302 False ENSG00000169515 ENSG00000169515 HGNC:25367 CDC45 gene CDC45 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Craniosynostosis (Wilkie) (from Ana Beleza);Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) Skeletal dysplasia;HP:0002652 27374770 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Skeletal dysplasia;HP:0002652 22140374;15805154 False 3 100;0;0 0.302 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDKN1C gene CDKN1C Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGE syndrome 614732 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDT1 gene CDT1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4 613804 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000167513 ENSG00000167513 HGNC:24576 CEP120 gene CEP120 Expert list;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 213300;Short-rib thoracic dysplasia 13 with or without polydactyly 616300 Skeletal dysplasia;HP:0002652 27208211 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14 615991;Leber congenital amaurosis 10;Joubert syndrome 5 610188;Meckel syndrome 4 611134;Senior-Loken syndrome 6 610189 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000131873 ENSG00000131873 HGNC:17198 CLCN5 gene CLCN5 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nephrolithiasis, type I 310468;Dent disease 300009;Hypophosphatemic rickets 300554;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4 611490;Osteopetrosis, autosomal dominant 2 166600 Skeletal dysplasia;HP:0002652 31155284 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg 611209 Skeletal dysplasia;HP:0002652 19008299;16537452 False 3 100;0;0 0.302 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Literature;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Saul-Wilson syndrome, OMIM #618150 Skeletal dysplasia;HP:0002652 PMID: 31949312;30290151 False 3 100;0;0 0.302 True ENSG00000103051 ENSG00000103051 HGNC:18620 COL10A1 gene COL10A1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondrodysplasia, Schmid type 156500 Skeletal dysplasia;HP:0002652 15880705;31633898 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type II 604841;Fibrochondrogenesis 1 228520;Marshall syndrome 154780 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Fibrochondrogenesis 2 614524?;Otospondylomegaepiphyseal dysplasia 215150;Fibrochondrogenesis 2 614524;Weissenbacher-Zweymuller syndrome 277610;Stickler syndrome, type III 184840 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, type VIIA 130060;Osteogenesis imperfecta, type III 259420;Osteogenesis imperfecta, type I 166200;Osteogenesis imperfecta, type IV 166220;Ehlers-Danlos syndrome, classic 130000;Caffey disease 114000;Osteogenesis imperfecta, type II 166210 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteogenesis imperfecta, type III 259420;Osteogenesis imperfecta, type IV 166220;Ehlers-Danlos syndrome, type VIIB 130060;Ehlers-Danlos syndrome, cardiac valvular form 225320;Osteogenesis imperfecta, type II 166210 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL27A1 gene COL27A1 Expert Review Green;Literature;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal OMIM #615155 Steel Syndrome Skeletal dysplasia;HP:0002652 24986830;28276056;28322503 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteoarthritis with mild chondrodysplasia 604864;Czech dysplasia 609162;SMED Strudwick type 184250;Spondyloepiphyseal dysplasia, Stanescu type 616583;Epiphyseal dysplasia, multiple, with myopia and deafness 132450;SED congenita 183900;Otospondylomegaepiphyseal dysplasia 215150;Stickler syndrome, type I 108300;Stickler sydrome, type I, nonsyndromic ocular 609508;Kniest dysplasia 156550;Platyspondylic skeletal dysplasia, Torrance type 151210;Spondyloperipheral dysplasia 271700;Achondrogenesis, type II or hypochondrogenesis 200610;Legg-Calve-Perthes disease 150600;Avascular necrosis of the femoral head 608805 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type IV 614134;Epiphyseal dysplasia, multiple, 6 614135 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stickler syndrome, type V, 614284;Epiphyseal dysplasia, multiple, 2 600204;Stickler syndrome, type V 614284;{Intervertebral disc disease, susceptibility to}, 603932 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Emory Genetics Laboratory;Expert;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MED;Mutiple Epiphyseal Dysplasia;Multiple Epiphyseal Dysplasia, Dominant;Epiphyseal dysplasia, multiple, with myopathy;Stickler syndrome type VI;multiple epiphyseal dysplasia;multiple epiphyseal dysplasia 3, with or without myopathy - 600969 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC11 gene COLEC11 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2 265050 Skeletal dysplasia;HP:0002652 28301481;8933348;21258343;2569826 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epiphyseal dysplasia, multiple, 1 132400;Pseudoachondroplasia 177170 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000105664 ENSG00000105664 HGNC:2227 CREB3L1 gene CREB3L1 Expert Review;Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVI 616229 Skeletal dysplasia;HP:0002652 25007323;28817112;29936144.;30657919 False 3 100;0;0 0.302 False ENSG00000157613 ENSG00000157613 HGNC:18856 CREBBP gene CREBBP Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Rubinstein-Taybi syndrome 180849;Rubinstein-Taybi syndrome 180849" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII 610682 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000170275 ENSG00000170275 HGNC:2379 CSGALNACT1 gene CSGALNACT1 Expert Review;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Skeletal dysplasia;HP:0002652 31705726;31325655 False 3 100;0;0 0.302 True ENSG00000147408 ENSG00000147408 HGNC:24290 CSPP1 gene CSPP1 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "ORPHA:475 Joubert syndrome;Joubert syndrome 21 615636;ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy;Joubert syndrome 21 615636;ORPHA:564 Meckel syndrome" Skeletal dysplasia;HP:0002652 24360803;24360808 False 3 100;0;0 0.302 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTSA gene CTSA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 256540 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome 245010,;Haim-Munk syndrome 245010 Skeletal dysplasia;HP:0002652 26205983;15727652;24966751 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 265800 Skeletal dysplasia;HP:0002652 28328823 False 3 100;0;0 0.302 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUL7 gene CUL7 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, MIM# 273750;Yakut short stature syndrome Skeletal dysplasia;HP:0002652 16142236;19225462;17675530 False 3 100;0;0 0.302 True ENSG00000044090 ENSG00000044090 HGNC:21024 CYP26B1 gene CYP26B1 Expert Review Green;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 Skeletal dysplasia;HP:0002652 27410456;22019272 False 3 100;0;0 0.302 True ENSG00000003137 ENSG00000003137 HGNC:20581 CYP27B1 gene CYP27B1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I 264700 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green;Other Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation, 600081 Skeletal dysplasia;HP:0002652 22855339;15128933;28548312;25942481 False 3 100;0;0 0.302 False ENSG00000186104 ENSG00000186104 HGNC:20580 DCC gene DCC Expert list;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM# 617542" Skeletal dysplasia;HP:0002652 28250456;33141514 False 3 100;0;0 0.302 True ENSG00000187323 ENSG00000187323 HGNC:2701 DDR2 gene DDR2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type 271665;Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000162733 ENSG00000162733 HGNC:2731 DDRGK1 gene DDRGK1 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557 Skeletal dysplasia;HP:0002652 28263186;35377455;35670300;36243336 False 3 100;0;0 0.302 True ENSG00000198171 ENSG00000198171 HGNC:16110 DHCR24 gene DHCR24 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis 602398 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert list;Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 Skeletal dysplasia;HP:0002652 9634533 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Miller syndrome (postaxial acrofacial dysostosis) 263750 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Perlman syndrome 267000 Skeletal dysplasia;HP:0002652 22306653 False 3 100;0;0 0.302 False ENSG00000144535 ENSG00000144535 HGNC:28648 DLL3 gene DLL3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive 277300 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 6, 616589 Skeletal dysplasia;HP:0002652 26299364 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichodontoosseous syndrome 190320;Amelogenesis imperfecta, type IV 104510 Skeletal dysplasia;HP:0002652 26762616;26104267 False 3 100;0;0 0.302 False ENSG00000064195 ENSG00000064195 HGNC:2916 DLX5 gene DLX5 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Split-hand/foot malformation 1 with sensorineural hearing loss 220600 Skeletal dysplasia;HP:0002652 27085093 False 3 100;0;0 0.302 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMP1 gene DMP1 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia, Hunter-Thompson type, 201250;Symphalangism, proximal, 1B, 615298;Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1);Brachydactyly, type A1, C, 615072;Brachydactyly, type A2, 112600;Du Pan syndrome, 228900;Hypophosphatemic rickets, AR, 241520;Osteogenesis Imperfecta and Decreased Bone Density;Chondrodysplasia, Grebe type, 200700;skeletal dysplasias;Brachydactyly, type C, 113100;{Osteoarthritis-5}, 612400;Multiple synostoses syndrome 2, 610017 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNAJC21 gene DNAJC21 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 617052 BONE MARROW FAILURE SYNDROME 3;BMFS3 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 True ENSG00000168724 ENSG00000168724 HGNC:27030 DNMT3A gene DNMT3A Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tatton-Brown-Rahman syndrome 615879 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000119772 ENSG00000119772 HGNC:2978 DOCK6 gene DOCK6 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Adams-Oliver syndrome 2 614219;Adams-Oliver syndrome 2 614219" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000130158 ENSG00000130158 HGNC:19189 DONSON gene DONSON Expert Review;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and limb abnormalities, MIM# 617604;Microcephaly-micromelia syndrome, MIM# 251230 Skeletal dysplasia;HP:0002652 28191891;28630177;28191891 False 3 100;0;0 0.302 True ENSG00000159147 ENSG00000159147 HGNC:2993 DPAGT1 gene DPAGT1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates 614750;UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ij 608093 Skeletal dysplasia;HP:0002652 12872255;22304930;30653653 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie 608799 Skeletal dysplasia;HP:0002652 23856421;15669674;10642602 False 3 100;0;0 0.302 False ENSG00000000419 ENSG00000000419 HGNC:3005 DSPP gene DSPP Expert Review Green;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentin dysplasia, type II, 125420 -3;Dentinogenesis imperfecta, Shields type III, 125500;Dentinogenesis imperfecta, Shields type II, 125490;Deafness, autosomal dominant 36, with dentinogenesis, 605594 Skeletal dysplasia;HP:0002652 27973701;29512331 False 3 100;0;0 0.302 False ENSG00000152591 ENSG00000152591 HGNC:3054 DVL1 gene DVL1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Robinow syndrome, autosomal dominant 2, MIM# 616331 Skeletal dysplasia;HP:0002652 25817014;25817016 False 3 100;0;0 0.302 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 3, 616894 Skeletal dysplasia;HP:0002652 26924530 False 3 100;0;0 0.302 False ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 607326;Dyggve-Melchior-Clausen disease 223800 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091;Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087;Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff) Skeletal dysplasia;HP:0002652 21211617 False 3 100;0;0 0.302 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal SRTD15 #617088;SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000138036 ENSG00000138036 HGNC:24595 EBP gene EBP Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MEND syndrome;CDPXLD;MEND syndrome-300960 XLR.;X-linked dominant chondrodysplasia punctata;Chondrodysplasia punctata, X-linked dominant, 302960 Skeletal dysplasia;HP:0002652 12509714 False 3 100;0;0 0.302 True ENSG00000147155 ENSG00000147155 HGNC:3133 EED gene EED Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cohen-Gibson syndrome 617561;Cohen-Gibson syndrome 617561" Skeletal dysplasia;HP:0002652 27868325;25787343;28229514;27193220 False 3 100;0;0 0.302 False ENSG00000074266 ENSG00000074266 HGNC:3188 EFL1 gene EFL1 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 617941 SHWACHMAN-DIAMOND SYNDROME 2;SDS2 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 True ENSG00000140598 ENSG00000140598 HGNC:25789 EFTUD2 gene EFTUD2 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type 610536 Skeletal dysplasia;HP:0002652 16760738;22305528;19334086 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Wolcott-Rallison syndrome 226980;Wolcott-Rallison syndrome 226980" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000172071 ENSG00000172071 HGNC:3255 EN1 gene EN1 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal ENDOVE syndrome, limb-only type, MIM# 619217;ENDOVE syndrome, limb-brain type, MIM# 619218 Skeletal dysplasia;HP:0002652 33568816 False 3 100;0;0 0.302 True ENSG00000163064 ENSG00000163064 HGNC:3342 ENPP1 gene ENPP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cole disease 615522;Arterial calcification, generalized, of infancy, 1 208000;Hypophosphatemic rickets, autosomal recessive, 2 613312 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert list;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Adams Oliver syndrome 4 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000163378 ENSG00000163378 HGNC:28526 ERF gene ERF Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 4 600775;Chitayat syndrome - 617180 Skeletal dysplasia;HP:0002652 23354439;26097063 False 3 100;0;0 0.302 False ENSG00000105722 ENSG00000105722 HGNC:3444 ERI1 gene ERI1 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 Skeletal dysplasia;HP:0002652 37352860 False 3 100;0;0 0.302 True ENSG00000104626 ENSG00000104626 HGNC:23994 ESCO2 gene ESCO2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal SC phocomelia syndrome 269000;Roberts syndrome 268300 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000171320 ENSG00000171320 HGNC:27230 EVC gene EVC Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;ECV1;Ellis-van Creveld Syndrome;Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530 Skeletal dysplasia;HP:0002652 False 3 33;67;0 0.302 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome 225500;Weyers acrofacial dysostosis 193530 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC6B gene EXOC6B Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675 Skeletal dysplasia;HP:0002652 26669664;30284759;36150098 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "trichorhinophalangeal syndrome type 2 -150230;Exostoses, multiple, type 13370;Exostoses, multiple, type 1 133700" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Emory Genetics Laboratory;Expert list;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2 133701 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425;Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425" Skeletal dysplasia;HP:0002652 28132690;28148688 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000106462 ENSG00000106462 HGNC:3527 FAM111A gene FAM111A Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gracile bone dysplasia 602361;Kenny-Caffey syndrome, type 2 127000 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20C gene FAM20C Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome 259775 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM46A gene FAM46A Expert Review Green;Other Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVIII 617952 Skeletal dysplasia;HP:0002652 29358272 False 3 100;0;0 0.302 False ENSG00000112773 ENSG00000112773 HGNC:18345 FAM58A gene FAM58A Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False - ENSG00000262919 HGNC:28434 FBN1 gene FBN1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stiff skin syndrome 184900;Marfan syndrome 154700;Geleophysic dysplasia 2 614185;Weill-Marchesani syndrome 2, dominant 608328;Acromicric dysplasia 102370 Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital 121050 Skeletal dysplasia;HP:0002652 33571691 False 3 100;0;0 0.302 True ENSG00000138829 ENSG00000138829 HGNC:3604 FERMT3 gene FERMT3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal (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.;Leukocyte adhesion deficiency, type III 612840 Skeletal dysplasia;HP:0002652 18709451 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome 149730 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF16 gene FGF16 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Metacarpal 4-5 fusion 309630;Metacarpal 4-5 fusion 309630" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteomalacia, tumor-induced;Tumoral calcinosis, hyperphosphatemic, familial 211900;Hypophosphatemic rickets, autosomal dominant 193100 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000118972 ENSG00000118972 HGNC:3680 FGF9 gene FGF9 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple synostoses syndrome type 3 612961 Skeletal dysplasia;HP:0002652 33140402;28730625;19589401;33174625 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 2 with or without anosmia 147950;Hartsfield syndrome 615465;Osteoglophonic dysplasia 166250;Pfeiffer syndrome 101600;Encephalocraniocutaneous lipomatosis, somatic mosaism 613001;Jackson-Weiss syndrome 123150;Trigonocephaly 1 190440 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniosynostosis, nonspecific Crouzon syndrome 123500;Pfeiffer syndrome 101600;Beare-Stevenson cutis gyrata syndrome 123790;Apert syndrome 101200;Gastric cancer, somatic 613659;Craniofacial-skeletal-dermatologic dysplasia 101600;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Bent bone dysplasia syndrome 614592;Jackson-Weiss syndrome 123150;LADD syndrome 149730 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Crouzon syndrome with acanthosis nigricans 612247;Thanatophoric dysplasia, type II 187601;Thanatophoric dysplasia, type I 187600;SADDAN 616482;LADD syndrome 149730;Achondroplasia 100800;Hypochondroplasia 146000;Muenke syndrome 602849;CATSHL syndrome 610474 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Yunis-Varon syndrome 216340;Yunis-Varon syndrome 216340;Amyotrophic lateral sclerosis 11 612577" Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XI, 610968;Brucks syndrome 1 - 259450;Osteogenesis Imperfecta and Decreased Bone Density;skeletal dysplasias;Osteogenesis Imperfecta, Recessive;Brucks syndrome Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000141756 ENSG00000141756 HGNC:18169 FLNA gene FLNA Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Frontometaphyseal dysplasia 305620;Otopalatodigital syndrome, type II -304120;Osteodysplasty Melnick Needles 309350 XLD;Melnick Needles syndrome 309350;Otopalatodigital syndrome, type II 304120 XLD;Frontometaphyseal dysplasia 305620 XLR;Terminal osseous dysplasia 300244;Otopalatodigital syndrome, type I -311300 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atelosteogenesis, type I 108720;Spondylocarpotarsal synostosis syndrome 272460;Larsen syndrome 150250;Boomerang dysplasia 112310;Atelosteogenesis, type III 108721 Skeletal dysplasia;HP:0002652 22190451;29566257 False 3 100;0;0 0.302 True ENSG00000136068 ENSG00000136068 HGNC:3755 FN1 gene FN1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondylometaphyseal dysplasia, corner fracture type 184255 Skeletal dysplasia;HP:0002652 29100092;30599297 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis 230000 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUZ gene FUZ Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy_MONDO_0005308, FUZ-related;skeletal ciliopathy Skeletal dysplasia;HP:0002652 PMID: 38702430, 29068549, 34719684 False 3 100;0;0 0.302 True ENSG00000010361 ENSG00000010361 HGNC:26219 FZD2 gene FZD2 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant omodysplasia type 2 164745;Autosomal dominant omodysplasia 164745 Skeletal dysplasia;HP:0002652 25759469;29383834;29383830;29230162;30455931 False 3 100;0;0 0.302 False ENSG00000180340 ENSG00000180340 HGNC:4040 GALNS gene GALNS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, MIM# 253000;MONDO:0009659 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial I 211900;Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Chondrodysplasia, Grebe type 200700;Multiple synostoses syndrome 2 610017;Du Pan syndrome 228900;Acromesomelic dysplasia, Hunter-Thompson type 201250;Brachydactyly, type C 113100;Brachydactyly, type A1, C 615072;Symphalangism, proximal, 1B 615298;{Osteoarthritis-5} 612400;Brachydactyly, type A2 112600 Skeletal dysplasia;HP:0002652 False 3 67;0;33 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Klippel-Feil syndrome 1, autosomal dominant 118100;Multiple synostoses syndrome type 4 - 617898. Skeletal dysplasia;HP:0002652 18425797 False 3 67;0;33 0.302 False ENSG00000156466 ENSG00000156466 HGNC:4221 GHR gene GHR Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal increased responsiveness to growth hormone 604271;{Hypercholesterolemia, familial, modification of}, 143890;Short stature, 604271;Proportionate Short Stature/Small for Gestational Age;Growth hormone insensitivity;Increased responsiveness to growth hormone;Laron dwarfism, 262500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000112964 ENSG00000112964 HGNC:4263 GINS3 gene GINS3 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Skeletal dysplasia;HP:0002652 35603789 False 3 100;0;0 0.302 True ENSG00000181938 ENSG00000181938 HGNC:25851 GJA1 gene GJA1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia 164200;Erythrokeratodermia variabilis et progressiva 133200;Palmoplantar keratoderma with congenital alopecia 104100;Hypoplastic left heart syndrome 1 241550;Oculodentodigital dysplasia, autosomal recessive 257850;Craniometaphyseal dysplasia, autosomal recessive 218400;Syndactyly, type III 186100 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type II 230600;GM1-gangliosidosis, type III 230650;Mucopolysaccharidosis type IVB (Morquio) 253010;GM1-gangliosidosis, type I 230500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypothalamic hamartomas, somatic} 241800;Polydactyly, postaxial, types A1 and B 174200;Greig cephalopolysyndactyly syndrome 175700;Pallister-Hall syndrome 146510;Polydactyly, preaxial, type IV 174700 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNAS gene GNAS Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ia 103580;ACTH-independent macronodular adrenal hyperplasia 219080 IC;Pseudohypoparathyroidism Ib 603233;Pseudopseudohypoparathyroidism 612463;McCune-Albright syndrome, somatic, mosaic 174800;Pseudohypoparathyroidism Ic 612462;Osseous heteroplasia, progressive 166350 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNPAT gene GNPAT Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal RCDP2;Rhizomelic Chondrodysplasia Punctata;Rhizomelic chondrodysplasia punctata type 2;Chondrodysplasia punctata, rhizomelic, type 2, 222765 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III alpha/beta 252600;Mucolipidosis II alpha/beta 252500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma 252605 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID 252940 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum 231070 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000120370 ENSG00000120370 HGNC:25676 GPC6 gene GPC6 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1 MIM#258315 Skeletal dysplasia;HP:0002652 19481194;32655339 False 3 100;0;0 0.302 True ENSG00000183098 ENSG00000183098 HGNC:4454 GPX4 gene GPX4 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 Skeletal dysplasia;HP:0002652 24706940;32827718 False 3 100;0;0 0.302 True ENSG00000167468 ENSG00000167468 HGNC:4556 GSC gene GSC Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471 Skeletal dysplasia;HP:0002652 24290375 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII 253220 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000169919 ENSG00000169919 HGNC:4696 GZF1 gene GZF1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Joint laxity, short stature, and myopia, MIM# 617662;Larsen-like syndrome Skeletal dysplasia;HP:0002652 28475863;33009817 False 3 100;0;0 0.302 False ENSG00000125812 ENSG00000125812 HGNC:15808 HDAC8 gene HDAC8 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 5 300882;Wilson-Turner syndrome 309585 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000147099 ENSG00000147099 HGNC:13315 HES7 gene HES7 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive 613686 Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000165102 ENSG00000165102 HGNC:26527 HHAT gene HHAT Expert list;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Nivelon-Nivelon-Mabille syndrome 600092" Skeletal dysplasia;HP:0002652 24784881;30912300;33749989 False 3 100;0;0 0.302 True ENSG00000054392 ENSG00000054392 HGNC:18270 HOXA13 gene HOXA13 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Guttmacher syndrome 176305;Hand-foot-uterus syndrome 140000;Hand-foot-genital syndrome 140000 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXD13 gene HOXD13 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type E 113300;Brachydactyly, type D 113200;Syndactyly, type V 186300;Synpolydactyly 1 186000;Brachydactyly-syndactyly syndrome 610713 Skeletal dysplasia;HP:0002652 17236141;12649808;9758628 False 3 100;0;0 0.302 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPGD gene HPGD Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Digital clubbing, isolated congenital 119900;Cranioosteoarthropathy 259100;Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000164120 ENSG00000164120 HGNC:5154 HSPG2 gene HSPG2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139);Dyssegmental dysplasia, Silverman-Handmaker type 224410;Schwartz-Jampel syndrome, type 1 255800 Skeletal dysplasia;HP:0002652 38424183;11101850;16927315;11279527 False 3 100;0;0 0.302 False ENSG00000142798 ENSG00000142798 HGNC:5273 ICK gene ICK Emory Genetics Laboratory;Expert list;Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia 612651 Skeletal dysplasia;HP:0002652 19185282;27069622 False 3 100;0;0 0.302 False ENSG00000112144 ENSG00000112144 HGNC:21219 IDH1 gene IDH1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ollier disease/ Dyschondroplasia 166000;Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875;Maffucci syndrome 614569 Skeletal dysplasia;HP:0002652 22057234;22025298;22057236;24049096 False 3 100;0;0 0.302 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 IDS gene IDS Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II 309900 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Is 607016;Mucopolysaccharidosis Ih/s 607015;Mucopolysaccharidosis Ih 607014 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000127415 ENSG00000127415 HGNC:5391 IFIH1 gene IFIH1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Singleton-Merten syndrome 1, 182250 Skeletal dysplasia;HP:0002652 28319323;25620204 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type V MIM#610967 Skeletal dysplasia;HP:0002652 22863190;22863195;32383316;24519609 False 3 100;0;0 0.302 True Other 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1 218330 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, 615630;SRTD10 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly - 617866;?Cranioectodermal dysplasia 3 - 614099 Skeletal dysplasia;HP:0002652 24027799;22791528;28400947;26892345;21378380 False 3 100;0;0 0.302 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 Skeletal dysplasia;HP:0002652 26880018;30242358;27466190;31042281 False 3 100;0;0 0.302 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Jeune syndrome (MONDO:0018770), IFT74-related Skeletal dysplasia;HP:0002652 PMID:37315079 False 3 100;0;0 0.302 True ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly 611263 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000068885 ENSG00000068885 HGNC:29262 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acrocapitofemoral dysplasia 607778;Brachydactyly, type A1 112500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKG gene IKBKG Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301;Incontinentia pigmenti 308300 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL11RA gene IL11RA Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies 614188 Skeletal dysplasia;HP:0002652 21741611 False 3 100;0;0 0.302 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL1RN gene IL1RN Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Interleukin 1 receptor antagonist deficiency 612852;Interleukin 1 receptor antagonist deficiency 612852" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000136689 ENSG00000136689 HGNC:6000 IMPAD1 gene IMPAD1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with joint dislocations, GPAPP type 614078 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000104331 ENSG00000104331 HGNC:26019 INPPL1 gene INPPL1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia 258480 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000165458 ENSG00000165458 HGNC:6080 KAT6B gene KAT6B Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SBBYSS syndrome 603736;GTPTS,Ohdo;Genitopatellar syndrome 606170 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000156650 ENSG00000156650 HGNC:17582 KCNJ2 gene KCNJ2 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Andersen syndrome MIM#170390" Skeletal dysplasia;HP:0002652 20301441 False 3 100;0;0 0.302 True ENSG00000123700 ENSG00000123700 HGNC:6263 KIAA0586 gene KIAA0586 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23 MIM#616490;Short-rib thoracic dysplasia 14 with polydactyly MIM#616546 Skeletal dysplasia;HP:0002652 PMID: 36538006;26096313;26166481 False 3 100;0;0 0.302 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert list;Expert Review Green;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome 38, MIM# 619476;Short-rib skeletal dysplasia Skeletal dysplasia;HP:0002652 28220259;26643951;29138412 False 3 100;0;0 0.302 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIF22 gene KIF22 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000079616 ENSG00000079616 HGNC:6391 KIF5B gene KIF5B Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Skeletal dysplasia, MONDO:0018230, KIF5B-related;Kyphomelic dysplasia Skeletal dysplasia;HP:0002652 PMID: 35342932 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome 2 614120;Acrocallosal syndrome 200990;Joubert syndrome 12 200990;Al-Gazali-Bakalinova syndrome 607131 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000166813 ENSG00000166813 HGNC:30497 KMT2D gene KMT2D Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1 - 147920 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Pelger-Huet anomaly with mild skeletal anomalies 618019;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly 169400 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000143815 ENSG00000143815 HGNC:6518 LEMD3 gene LEMD3 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melorheostosis with osteopoikilosis 155950 IC;Osteopoikilosis 166700;Buschke-Ollendorff syndrome 166700 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000174106 ENSG00000174106 HGNC:28887 LFNG gene LFNG Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive MIM#609813 Skeletal dysplasia;HP:0002652 9690472;16385447;30531807;9690473 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 Skeletal dysplasia;HP:0002652 False 3 50;50;0 0.302 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 Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laurin-Sandrow syndrome 135750;Polydactyly, preaxial type II 174500;Triphalangeal thumb, type I 174500;Syndactyly, type IV 186200;Acheiropody 200500;Triphalangeal thumb-polysyndactyly syndrome 174500;Hypoplastic or aplastic tibia with polydactyly 188740 Skeletal dysplasia;HP:0002652 11090342;26749485 False 3 100;0;0 0.302 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMNA gene LMNA Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Emery-Dreifuss muscular dystrophy 2, 181350;Heart-hand syndrome, Slovenian type 610140;Foundation Trust) Mandibuloacral dysplasia 248370;Muscular dystrophy, limb-girdle, type 1B 159001;Malouf syndrome 212112;616516;Cardiomyopathy, dilated, 1A 115200;Lipodystrophy, familial partial, 2 151660;Emery-Dreifuss muscular dystrophy 3, 616516;Charcot-Marie-Tooth disease, type 2B1 605588;Mandibuloacral dysplasia 248370;Restrictive dermopathy, lethal 275210;Hutchinson-Gilford progeria 176670;Muscular dystrophy, congenital 613205" Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Nail-patella syndrome 161200;Nail-patella syndrome 161200" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000136944 ENSG00000136944 HGNC:6654 LONP1 gene LONP1 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 Skeletal dysplasia;HP:0002652 29912021 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sclerosteosis 2 614305;Cenani-Lenz syndactyly syndrome 212780 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Exudative vitreoretinopathy 4 601813;Osteoporosis-pseudoglioma syndrome 259770;[Bone mineral density variability 1] 601884;{Osteoporosis} 166710;van Buchem disease, type 2 607636;Osteopetrosis, autosomal dominant 1 607634;Hyperostosis, endosteal 144750;Osteosclerosis 144750 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRRK1 gene LRRK1 Expert Review;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198) Skeletal dysplasia;HP:0002652 27829680;27055475;31571209;32119750 False 3 100;0;0 0.302 True ENSG00000154237 ENSG00000154237 HGNC:18608 LTBP3 gene LTBP3 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Dental anomalies and short stature 610216;Geleophysic dysplasia 3 617809;Geleophysic dysplasia 3 617809" Skeletal dysplasia;HP:0002652 27068007 False 3 100;0;0 0.302 False ENSG00000168056 ENSG00000168056 HGNC:6716 MAB21L2 gene MAB21L2 Expert Review;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Skeletal dysplasia;HP:0002652 24906020;25719200;31037784;30375740;30073347;26116559 False 3 100;0;0 0.302 True ENSG00000181541 ENSG00000181541 HGNC:6758 MAFB gene MAFB Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome 166300 Skeletal dysplasia;HP:0002652 30430035;30305815;2387013 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 248500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAP3K7 gene MAP3K7 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontometaphyseal dysplasia 2, 617137 Skeletal dysplasia;HP:0002652 27426733 False 3 100;0;0 0.302 False Other - please provide details in the comments ENSG00000135341 ENSG00000135341 HGNC:6859 MASP1 gene MASP1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1 - 257920 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MED;Multiple Epiphyseal Dysplasia, Dominant;Disproportionate Short Stature;Spondyloepimetaphyseal dysplasia, 608728;Epiphyseal dysplasia, multiple, 5, 607078;{Osteoarthritis susceptibility 2}, 140600;multiple epiphyseal dysplasia Skeletal dysplasia;HP:0002652 16199550;16287128;15121775;30080953;11479597 False 3 100;0;0 0.302 False ENSG00000132031 ENSG00000132031 HGNC:6909 MBTPS1 gene MBTPS1 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia Skeletal dysplasia;HP:0002652 32857899;32420688;30046013 False 3 100;0;0 0.302 True ENSG00000140943 ENSG00000140943 HGNC:15456 MECOM gene MECOM Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738;Radioulnar synostosis without hematological aberration, no OMIM # Skeletal dysplasia;HP:0002652 PMID: 35219593, 26581901, 29519864 False 3 100;0;0 0.302 True ENSG00000085276 ENSG00000085276 HGNC:3498 MEGF8 gene MEGF8 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2 614976 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000105429 ENSG00000105429 HGNC:3233 MEOX1 gene MEOX1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Klippel-Feil syndrome 2 214300 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESD gene MESD Expert Review Green;Other Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type XX, MIM# 618644" Skeletal dysplasia;HP:0002652 31564437 False 3 100;0;0 0.302 True ENSG00000117899 ENSG00000117899 HGNC:13520 MESP2 gene MESP2 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, autosomal recessive 608681 Skeletal dysplasia;HP:0002652 15122512;18485326 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Keutel syndrome 245150;skeletal dysplasia MONDO:0018230, MGP-related" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 True ENSG00000111341 ENSG00000111341 HGNC:7060 MIR140 gene MIR140 Expert Review;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618" Skeletal dysplasia;HP:0002652 30804514;31633310 False 3 100;0;0 0.302 True Other ENSG00000208017 ENSG00000208017 HGNC:31527 MIR17HG gene MIR17HG Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FS2;Microcephaly-oculo-digito-esophageal-duodenal syndrome;Brachydactyly with short stature and microcephaly;Feingold syndrome 2, 614326 Skeletal dysplasia;HP:0002652 26360630;21892160;25391829;19344873 False 3 100;0;0 0.302 True ENSG00000215417 ENSG00000215417 HGNC:23564 MKKS gene MKKS Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231;Polydactyly;McKusick-Kaufman syndrome, 236700 Skeletal dysplasia;HP:0002652 False 3 67;33;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1 249000;Bardet-Biedl syndrome 13 615990 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMP13 gene MMP13 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal anadysplasia 1 602111;Spondyloepimetaphyseal dysplasia, Missouri type 602111;Metaphyseal dysplasia, Spahr type - 250400 Skeletal dysplasia;HP:0002652 24648384 False 3 100;0;0 0.302 False ENSG00000137745 ENSG00000137745 HGNC:7159 MMP2 gene MMP2 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Multicentric osteolysis, nodulosis, and arthropathy 259600 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000087245 ENSG00000087245 HGNC:7166 MMP9 gene MMP9 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 613073METAPHYSEAL ANADYSPLASIA 2;Metaphyseal anadysplasia 2 613073 Skeletal dysplasia;HP:0002652 28342220;19615667 False 3 100;0;0 0.302 True ENSG00000100985 ENSG00000100985 HGNC:7176 MNX1 gene MNX1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Currarino syndrome 176450 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000130675 ENSG00000130675 HGNC:4979 MPDU1 gene MPDU1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 Skeletal dysplasia;HP:0002652 11733564;11733556;31741824;29721919 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parietal foramina 1 168500;Parietal foramina with cleidocranial dysplasia 168550;Craniosynostosis, type 2 604757 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTX2 gene MTX2 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia progeroid syndrome, MIM# 619127;Mandibuloacral dysplasia;lipodystrophy;arterial calcification Skeletal dysplasia;HP:0002652 32917887 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000134323 ENSG00000134323 HGNC:7559 NAGLU gene NAGLU Emory Genetics Laboratory;Expert list;Expert Review Amber;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Royal Melbourne Hospital;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 Skeletal dysplasia;HP:0002652 False 3 50;50;0 0.302 False ENSG00000108784 ENSG00000108784 HGNC:7632 NANS gene NANS Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Skeletal dysplasia;HP:0002652 27213289 False 3 100;0;0 0.302 False ENSG00000095380 ENSG00000095380 HGNC:19237 NBAS gene NBAS Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Skeletal dysplasia;HP:0002652 27789416 False 3 100;0;0 0.302 False ENSG00000151779 ENSG00000151779 HGNC:15625 NEK1 gene NEK1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short rib thoracic dysplasia 6 with or without polydactyly - 263520;Short rib-polydactyly syndrome, type IIA, 263520;Short Rib Polydactyly Syndrome;SRPS type 2 (Majewski) Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEPRO gene NEPRO Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 3, MIM618853 Skeletal dysplasia;HP:0002652 26633546;29620724;31250547;37294112 False 3 33;67;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I 256550;Sialidosis, type II 256550 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis, type 1 162200;Neurofibromatosis, type 1 162200;Neurofibromatosis, familial spinal 162210;Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis, familial spinal 162210" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFIX gene NFIX Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marshall-Smith syndrome 602535;Sotos syndrome 2 614753 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 Skeletal dysplasia;HP:0002652 29379197;29440723 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115;CINCA (Infantile-onset multisystem inflammatory disease) 607115 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tarsal-carpal coalition syndrome 186570;Stapes ankylosis with broad thumb and toes 184460;Brachydactyly, type B2 611377;Symphalangism, proximal, 1A 185800;Multiple synostoses syndrome 1 186500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000183691 ENSG00000183691 HGNC:7866 NOTCH1 gene NOTCH1 Expert Review;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly);Limb, scalp and skull defects;Adams-Oliver syndrome 5, 616028;AOS Skeletal dysplasia;HP:0002652 27077170;25963545;25132448 False 3 100;0;0 0.302 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 610205;Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short stature with nonspecific skeletal abnormalities 616255;Epiphyseal chondrodysplasia, Miura type 615923;Acromesomelic dysplasia, Maroteaux type 602875 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000159899 ENSG00000159899 HGNC:7944 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1 117550 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CK syndrome 300831;Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000147383 ENSG00000147383 HGNC:13398 OBSL1 gene OBSL1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2 612921 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000124006 ENSG00000124006 HGNC:29092 OFD1 gene OFD1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Orofaciodigital syndrome I 311200 XLD;Simpson-Golabi-Behmel syndrome, type 2 300209 XLR;Joubert syndrome 10 300804 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Meier-Gorlin syndrome 1 224690;Meier-Gorlin syndrome 1 224690" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Meier-Gorlin syndrome 2 613800;Meier-Gorlin syndrome 2 613800" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Meier-Gorlin syndrome 3 613803;Meier-Gorlin syndrome 3 613803" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSTM1 gene OSTM1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 259720 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000081087 ENSG00000081087 HGNC:21652 P3H1 gene P3H1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;UKGTN Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII 610915 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cole-Carpenter syndrome 1 112240;Cole-Carpenter syndrome 1 112240" Skeletal dysplasia;HP:0002652 25683117;29384951;30063094 False 3 100;0;0 0.302 False Other ENSG00000185624 ENSG00000185624 HGNC:8548 PAM16 gene PAM16 Expert list;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 Skeletal dysplasia;HP:0002652 27354339;24786642 False 3 100;0;0 0.302 True ENSG00000217930 ENSG00000217930 HGNC:29679 PAPSS2 gene PAPSS2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Skeletal dysplasia;HP:0002652 22791835;25594860;31461705;23633440;9771708;19474428 False 3 100;0;0 0.302 True ENSG00000198682 ENSG00000198682 HGNC:8604 PAX3 gene PAX3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 3, 148820;Craniofacial-deafness-hand syndrome, 122880;Waardenburg syndrome, type 1, 193500 Skeletal dysplasia;HP:0002652 7726174;26443304;12949970;30173992;8447316;11683776;6340503 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II 210720 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Spondylometaphyseal dysplasia with cone-rod dystrophy 608940;Spondylometaphyseal dysplasia with cone-rod dystrophy 608940" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000161217 ENSG00000161217 HGNC:8754 PDE3A gene PDE3A Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, 112410 Skeletal dysplasia;HP:0002652 25961942;9696728 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Acrodysostosis 2, with or without hormone resistance 614613;Acrodysostosis 2, with or without hormone resistance 614613" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 5 616716;Peroxisome biogenesis disorder 2A (Zellweger) 214110 Skeletal dysplasia;HP:0002652 18712838 False 3 100;0;0 0.302 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX7 gene PEX7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic CDP type 1;Rhizomelic chondrodysplasia punctata, type 1, 215100 Skeletal dysplasia;HP:0002652 28742517;7719337;25800479 False 3 100;0;0 0.302 False ENSG00000112357 ENSG00000112357 HGNC:8860 PGM3 gene PGM3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 23 615816;Immunodeficiency 23 615816" Skeletal dysplasia;HP:0002652 24931394 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHF6 gene PHF6 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Skeletal dysplasia;HP:0002652 16912705 False 3 100;0;0 0.302 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHGDH gene PHGDH Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency 601815;Neu-Laxova syndrome 1 256520 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000092621 ENSG00000092621 HGNC:8923 PIGT gene PIGT Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Skeletal dysplasia;HP:0002652 28327575;29868109 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIK3C2A gene PIK3C2A Expert list;Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome 618440 Skeletal dysplasia;HP:0002652 31034465 False 3 100;0;0 0.302 False ENSG00000011405 ENSG00000011405 HGNC:8971 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome 269880 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000145675 ENSG00000145675 HGNC:8979 PISD gene PISD Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Liberfarb syndrome MIM# 618889;Spondylometaphyseal dysplasia with large epiphyses, MONDO:0100510" Skeletal dysplasia;HP:0002652 30488656;31263216;30858161 False 3 50;50;0 0.302 True ENSG00000241878 ENSG00000241878 HGNC:8999 PITX1 gene PITX1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Liebenberg syndrome 186550;Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 Skeletal dysplasia;HP:0002652 23587911;23022097;30459804 False 3 100;0;0 0.302 False ENSG00000069011 ENSG00000069011 HGNC:9004 PKDCC gene PKDCC Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic limb shortening with dysmorphic features, MIM# 618821 Skeletal dysplasia;HP:0002652 30478137;19097194;36896672 False 3 50;50;0 0.302 True ENSG00000162878 ENSG00000162878 HGNC:25123 PLOD2 gene PLOD2 Emory Genetics Laboratory;Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2 609220 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLS3 gene PLS3 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000102024 ENSG00000102024 HGNC:9091 POC1A gene POC1A Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813;Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813" Skeletal dysplasia;HP:0002652 26374189;26162852;26336158 False 3 100;0;0 0.302 False ENSG00000164087 ENSG00000164087 HGNC:24488 POLR1A gene POLR1A Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis, Cincinnati type 616462 Skeletal dysplasia;HP:0002652 25913037 False 3 100;0;0 0.302 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1B gene POLR1B Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher-Collins syndrome type 4 Skeletal dysplasia;HP:0002652 31649276 False 3 50;50;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 3 248390 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Treacher Collins syndrome 2 613717 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000186184 ENSG00000186184 HGNC:20422 POP1 gene POP1 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, 617396 Skeletal dysplasia;HP:0002652 27380734;28067412;21455487 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type IX 259440;Osteogenesis imperfecta, type IX 259440" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pigmented nodular adrenocortical disease, primary, 1 610489;Acrodysostosis 1, with or without hormone resistance 101800;Myxoma, intracardiac 255960 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000108946 ENSG00000108946 HGNC:9388 PRKG2 gene PRKG2 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 4, MIM# 619636;Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638 Skeletal dysplasia;HP:0002652 33106379;34782440 False 3 100;0;0 0.302 True ENSG00000138669 ENSG00000138669 HGNC:9416 PRMT7 gene PRMT7 Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000132600 ENSG00000132600 HGNC:25557 PSAT1 gene PSAT1 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 2 616038 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTDSS1 gene PTDSS1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism 151050 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTH1R gene PTH1R Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Brachydactyly, type E2 613382;Brachydactyly, type E2 613382" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "LEOPARD syndrome 1 151100;Noonan syndrome 1 163950;Metachondromatosis 156250;LEOPARD syndrome 1 151100" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000179295 ENSG00000179295 HGNC:9644 PUF60 gene PUF60 Expert Review Green;Literature;NHS GMS;Other Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583;Chromosome 8q24.3 deletion syndrome;VRJS;PUF60 syndrome Skeletal dysplasia;HP:0002652 28327570;24140112;27804958 False 3 100;0;0 0.302 False ENSG00000179950 ENSG00000179950 HGNC:17042 PYCR1 gene PYCR1 Emory Genetics Laboratory;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIB 614438;Cutis laxa, autosomal recessive, type IIB 612940 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 201000 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2 615222 Skeletal dysplasia;HP:0002652 23042644;28127940;22652534;16470731 False 3 100;0;0 0.302 False ENSG00000172007 ENSG00000172007 HGNC:16075 RAB34 gene RAB34 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 Skeletal dysplasia;HP:0002652 37619988;37384395 False 3 100;0;0 0.302 True ENSG00000109113 ENSG00000109113 HGNC:16519 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Martsolf syndrome 1 MIM#212720" Skeletal dysplasia;HP:0002652 23420520;20967465 False 3 100;0;0 0.302 True ENSG00000118873 ENSG00000118873 HGNC:17168 RASGRP2 gene RASGRP2 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 18709451;24958846 False 3 100;0;0 0.302 False ENSG00000068831 ENSG00000068831 HGNC:9879 RBM8A gene RBM8A Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome 274000 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adams-Oliver syndrome 3, 614814 Skeletal dysplasia;HP:0002652 28160419;22883147;29924900 False 3 100;0;0 0.302 False ENSG00000168214 ENSG00000168214 HGNC:5724 RECQL4 gene RECQL4 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome 268400;Baller-Gerold syndrome 218600;RAPILINO syndrome 266280 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000163933 ENSG00000163933 HGNC:30220 RIPPLY2 gene RIPPLY2 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 6, MIM# 616566 Skeletal dysplasia;HP:0002652 25343988;26238661;33410135;32212228;29761784 False 3 100;0;0 0.302 True ENSG00000203877 ENSG00000203877 HGNC:21390 RMRP gene RMRP Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 607095;Cartilage-hair hypoplasia 250250;Metaphyseal dysplasia without hypotrichosis 250460 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNU4ATAC gene RNU4ATAC Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I 210710;Roifman syndrome 616651 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1 113000;Robinow syndrome, autosomal recessive 268310 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 7 611560;Meckel syndrome 5 611561 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL13 gene RPL13 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal Dysplasia with Severe Short Stature Skeletal dysplasia;HP:0002652 31630789 False 3 100;0;0 0.302 True ENSG00000167526 ENSG00000167526 HGNC:10303 RUNX2 gene RUNX2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleidocranial dysplasia, forme fruste, dental anomalies only 119600;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510;Cleidocranial dysplasia, forme fruste, with brachydactyly 119600;Cleidocranial dysplasia 119600 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted IVIC syndrome 147750;Okihiro (Duane-radial ray) syndrome 607323 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000101115 ENSG00000101115 HGNC:15924 SBDS gene SBDS Expert list;Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Shwachman-Diamond syndrome 260400;Shwachman-Diamond syndrome 260400" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCARF2 gene SCARF2 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome 600920 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCUBE3 gene SCUBE3 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184;Short stature;skeletal abnormalities;craniofacial abnormalities;dental anomalies Skeletal dysplasia;HP:0002652 33308444 False 3 100;0;0 0.302 True ENSG00000146197 ENSG00000146197 HGNC:13655 SEC24D gene SEC24D Expert Review;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cole-Carpenter syndrome;SYNDROMIC OSTEOGENESIS IMPERFECTA;Osteogenesis Imperfecta, Cole Carpenter syndrome Skeletal dysplasia;HP:0002652 25683121 False 3 100;0;0 0.302 False ENSG00000150961 ENSG00000150961 HGNC:10706 SEMA3A gene SEMA3A Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897;congenital heart disease;skeletal anomalies Skeletal dysplasia;HP:0002652 28075028;33369061;20301509;21059704;24124006;22927827 False 3 100;0;0 0.302 True ENSG00000075213 ENSG00000075213 HGNC:10723 SERPINF1 gene SERPINF1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal OI/osteoporosis;osteogenesis imperfecta;Osteogenesis Imperfecta, Recessive;Osteogenesis imperfecta, type VI, 613982 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type X, 613848;OI3;Osteogenesis Imperfecta and Decreased Bone Density;{Preterm premature rupture of the membranes, susceptibility to}, 610504;skeletal dysplasias;Osteogenesis Imperfecta, Recessive Skeletal dysplasia;HP:0002652 20188343;25510505 False 3 100;0;0 0.302 False ENSG00000149257 ENSG00000149257 HGNC:1546 SETD2 gene SETD2 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Luscan-Lumish syndrome 616831 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000181555 ENSG00000181555 HGNC:18420 SF3B4 gene SF3B4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrofacial dysostosis 1, Nager type 154400 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000143368 ENSG00000143368 HGNC:10771 SFRP4 gene SFRP4 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Pyle disease, MIM#265900 Skeletal dysplasia;HP:0002652 31239337;28100910;27355534;26273529;27117872;20174869;24096177;22965941;22387305 False 3 100;0;0 0.302 True ENSG00000106483 ENSG00000106483 HGNC:10778 SGSH gene SGSH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism 118400 Skeletal dysplasia;HP:0002652 11381256;22640988;20301316;22153076 False 3 100;0;0 0.302 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome 249420 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000174705 ENSG00000174705 HGNC:29242 SHOX gene SHOX Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Leri-Weill dyschondrosteosis 127300;Short stature, idiopathic familial 300582;Langer mesomelic dysplasia 249700 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000185960 ENSG00000185960 HGNC:10853 SKI gene SKI Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome 182212 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC10A7 gene SLC10A7 Expert Review Green;Literature;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal skeletal dysplasia and amelogenesis imperfecta;Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363 Skeletal dysplasia;HP:0002652 30082715 False 3 100;0;0 0.302 False ENSG00000120519 ENSG00000120519 HGNC:23088 SLC17A5 gene SLC17A5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile 269920 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC26A2 gene SLC26A2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal multiple epiphyseal dysplasia;Epiphyseal dysplasia, multiple, 4;ACG1B,DD,rMED;Multiple Epiphyseal Dysplasia, Recessive Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC29A3 gene SLC29A3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome 602782 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC34A1 gene SLC34A1 Expert Review Green;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Skeletal dysplasia;HP:0002652 12324554;25050900;9560283 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria 241530 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35C1 gene SLC35C1 Expert Review Green;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type IIc 266265 Skeletal dysplasia;HP:0002652 12476046;11326280 False 3 100;0;0 0.302 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Schneckenbecken dysplasia 269250;Schneckenbecken dysplasia 269250" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC39A13 gene SLC39A13 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLCO2A1 gene SLCO2A1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441;Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441" Skeletal dysplasia;HP:0002652 23509104;27134495;33852188;22331663;27134495 False 3 100;0;0 0.302 True 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3 613795 Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Myhre syndrome 139210;Myhre syndrome 139210" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMAD6 gene SMAD6 Expert Review;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Radioulnar synostosis, nonsyndromic} 179300" Skeletal dysplasia;HP:0002652 31138930 False 3 100;0;0 0.302 True ENSG00000137834 ENSG00000137834 HGNC:6772 SMARCAL1 gene SMARCAL1 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Schimke immunoosseous dysplasia 242900;Schimke immunoosseous dysplasia 242900" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCB1 gene SMARCB1 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3, MIM# 614608 Skeletal dysplasia;HP:0002652 34205270;31530938;25168959 False 3 100;0;0 0.302 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 5, MIM# 616938 Skeletal dysplasia;HP:0002652 23377182;22426308;23906836;23929686;32732226;32436246;32410215;34205270 False 3 100;0;0 0.302 True ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2 300590 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3 610759 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMOC1 gene SMOC1 Expert Review;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ophthalmo-acromelic syndrome;Polydactyly;Microphthalmia with limb anomalies 206920 Skeletal dysplasia;HP:0002652 21194680;21194678 False 3 100;0;0 0.302 False ENSG00000198732 ENSG00000198732 HGNC:20318 SNRPB gene SNRPB Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebrocostomandibular syndrome 117650 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000125835 ENSG00000125835 HGNC:11153 SNX10 gene SNX10 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 615085 Skeletal dysplasia;HP:0002652 23280965 False 3 100;0;0 0.302 False ENSG00000086300 ENSG00000086300 HGNC:14974 SOST gene SOST Expert;Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Craniodiaphyseal dysplasia, autosomal dominant 122860;Van Buchem disease 239100;Sclerosteosis 1 269500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000167941 ENSG00000167941 HGNC:13771 SOX11 gene SOX11 Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome MONDO:0015452 Skeletal dysplasia;HP:0002652 26543203;29459093;24886874 False 3 100;0;0 0.302 True ENSG00000176887 ENSG00000176887 HGNC:11191 SOX9 gene SOX9 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia with autosomal sex reversal 114290;Campomelic dysplasia 114290;Acampomelic campomelic dysplasia 114290 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII 613849 Skeletal dysplasia;HP:0002652 29382611;2057926 False 3 100;0;0 0.302 False ENSG00000170374 ENSG00000170374 HGNC:17321 SPARC gene SPARC Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII 616507 Skeletal dysplasia;HP:0002652 26027498 False 3 100;0;0 0.302 False ENSG00000113140 ENSG00000113140 HGNC:11219 SRP54 gene SRP54 Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT;SCN8 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 True ENSG00000100883 ENSG00000100883 HGNC:11301 STT3A gene STT3A Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw MIM#615596 Skeletal dysplasia;HP:0002652 PMID: 34653363;23842455;30701557;28424003;34653363 False 3 100;0;0 0.302 True Other 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 272200 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000144455 ENSG00000144455 HGNC:20376 TAB2 gene TAB2 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980) Skeletal dysplasia;HP:0002652 34456334;36000780 False 3 100;0;0 0.302 True ENSG00000055208 ENSG00000055208 HGNC:17075 TALDO1 gene TALDO1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 606003 Skeletal dysplasia;HP:0002652 25388407;26238251 False 3 100;0;0 0.302 False ENSG00000177156 ENSG00000177156 HGNC:11559 TBCE gene TBCE Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome 241410;Kenny-Caffey syndrome, type 1 244460.;Kenny-Caffey syndrome, type 1 244460 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBX15 gene TBX15 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cousin syndrome 260660 Skeletal dysplasia;HP:0002652 24039145 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ulnar-mammary syndrome 181450 Skeletal dysplasia;HP:0002652 30654152;28145909;28961683 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ischiocoxopodopatellar syndrome 147891;Ischiocoxopodopatellar syndrome 147891" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome 142900 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBX6 gene TBX6 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Spondylocostal dysostosis 5 122600" Skeletal dysplasia;HP:0002652 33058178;31015262;30636772;28054739;23335591;30307510 False 3 100;0;0 0.302 True ENSG00000149922 ENSG00000149922 HGNC:11605 TBXAS1 gene TBXAS1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome MIM#231095 Skeletal dysplasia;HP:0002652 18264100 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 259700 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1 154500 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 Skeletal dysplasia;HP:0002652 25830415;26044572 False 3 100;0;0 0.302 False 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 8 613885;Joubert syndrome 24 616654 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IV 258860;Joubert syndrome 18 614815 Skeletal dysplasia;HP:0002652 22883145 False 3 100;0;0 0.302 False ENSG00000119977 ENSG00000119977 HGNC:24519 TERT gene TERT Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000164362 ENSG00000164362 HGNC:11730 TGFB1 gene TGFB1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Camurati-Engelmann disease 131300;Camurati-Engelmann disease 131300" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4 614816 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2 610168 Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMCO1 gene TMCO1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980;Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980" Skeletal dysplasia;HP:0002652 24424126 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 2 603194;Joubert syndrome 2 608091 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 11 615397;Joubert syndrome 20 614970 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM38B gene TMEM38B Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV 615066;osteogenesis imperfecta;Osteogenesis imperfecta, type XIV, 615066 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000095209 ENSG00000095209 HGNC:25535 TMEM53 gene TMEM53 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Primary Bone Dysplasia MONDO: 0018230 Skeletal dysplasia;HP:0002652 PMID: 33824347 False 3 100;0;0 0.302 True ENSG00000126106 ENSG00000126106 HGNC:26186 TNFRSF11A gene TNFRSF11A Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteolysis, familial expansile 174810;Paget disease of bone 2, early-onset 602080;Osteopetrosis, autosomal recessive 7 612301 Skeletal dysplasia;HP:0002652 18606301;32048120 False 3 100;0;0 0.302 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF11B gene TNFRSF11B Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Paget disease of bone 5, juvenile-onset 239000;Paget disease of bone 5, juvenile-onset 239000" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 259710 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000120659 ENSG00000120659 HGNC:11926 TONSL gene TONSL Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510;spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068 Skeletal dysplasia;HP:0002652 30773277;30773278;32959051 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hay-Wells syndrome 106260;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292;Limb-mammary syndrome 603543;Rapp-Hodgkin syndrome 129400;Orofacial cleft 8 129400;ULT syndrome 103285;Split-hand/foot malformation 4 605289 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000073282 ENSG00000073282 HGNC:15979 TRAPPC2 gene TRAPPC2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepiphyseal dysplasia tarda, MIM# 313400 Skeletal dysplasia;HP:0002652 10431248;14755465;33726005;20301324;32953644 False 3 100;0;0 0.302 True 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease 221770 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRIP11 gene TRIP11 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Achondrogenesis, type IA 200600;Achondrogenesis, type IA 200600" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type I 190350;Trichorhinophalangeal syndrome, type III 190351 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV4 gene TRPV4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Digital arthropathy-brachydactyly, familial 606835;Parastremmatic dwarfism 168400;Scapuloperoneal spinal muscular atrophy 181405;SED, Maroteaux type 184095;Brachyolmia type 3 113500;Hereditary motor and sensory neuropathy, type IIc 606071;Spinal muscular atrophy, distal, congenital nonprogressive 600175;Metatropic dysplasia 156530;Spondylometaphyseal dysplasia, Kozlowski type 184252 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 Expert Review Green;Literature;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, 618188 Skeletal dysplasia;HP:0002652 29861107 False 3 100;0;0 0.302 False ENSG00000165125 ENSG00000165125 HGNC:14006 TTC21B gene TTC21B Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal SRTD4;Asphyxiating Thoracic Dystrophy;Nephronophthisis 12, 613820 Skeletal dysplasia;HP:0002652 False 3 67;0;33 0.302 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Emory Genetics Laboratory;Expert list;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Polydactyly;Bardet-Biedl syndrome 8, 615985 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000165533 ENSG00000165533 HGNC:20087 TWIST1 gene TWIST1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis, type 1 123100;Saethre-Chotzen syndrome with eyelid anomalies 101400;Saethre-Chotzen syndrome 101400;Robinow-Sorauf syndrome 180750 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000122691 ENSG00000122691 HGNC:12428 TYROBP gene TYROBP Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Nasu-Hakola disease 221770 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000011600 ENSG00000011600 HGNC:12449 UBA2 gene UBA2 Expert Review Green;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ACCES syndrome, MIM# 619959;Split-Hand/Foot Malformation;Aplasia Cutis Congenita;Ectrodactyly Skeletal dysplasia;HP:0002652 31332306;31587267;34159400 False 3 33;67;0 0.302 True ENSG00000126261 ENSG00000126261 HGNC:30661 UFSP2 gene UFSP2 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hip dysplasia, Beukes type, MIM#142669;Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 Skeletal dysplasia;HP:0002652 28892125;26428751;32755715;37214758 False 3 50;50;0 0.302 True ENSG00000109775 ENSG00000109775 HGNC:25640 USP9X gene USP9X Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Skeletal dysplasia;HP:0002652 31443933;26833328 False 3 100;0;0 0.302 True ENSG00000124486 ENSG00000124486 HGNC:12632 VDR gene VDR Expert;Expert Review Green;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA, 277440 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000111424 ENSG00000111424 HGNC:12679 WDPCP gene WDPCP Emory Genetics Laboratory;Expert list;Expert Review Green Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085 Skeletal dysplasia;HP:0002652 28289185;27158779;25427950;20671153 False 3 100;0;0 0.302 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Asphyxiating thoracic dystrophy 5, 614376;Cranioectodermal dysplasia 4, 614378;SRTD5 Skeletal dysplasia;HP:0002652 24504730;22019273 False 3 100;0;0 0.302 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2 613610;Short-rib thoracic dysplasia 7 with or without polydactyly 614091 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly 615503 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000126870 ENSG00000126870 HGNC:21862 WISP3 gene WISP3 Expert Review Green;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Arthropathy, progressive pseudorheumatoid, of childhood 208230;Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 True ENSG00000112761 ENSG00000112761 HGNC:12771 WNT1 gene WNT1 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal OI/osteoporosis;osteogenesis imperfecta;Osteogenesis imperfecta, type XV, 615220;{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6 225300 Skeletal dysplasia;HP:0002652 24211389 False 3 100;0;0 0.302 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;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1 180700 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 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 Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Fuhrmann syndrome, MIM# 228930;Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820;Santos syndrome, MIM# 613005 Skeletal dysplasia;HP:0002652 21344627;20949531;16826533 False 3 100;0;0 0.302 True ENSG00000154764 ENSG00000154764 HGNC:12786 XRCC4 gene XRCC4 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction 616541 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Desbuquois dysplasia 2 615777;Desbuquois dysplasia 2 615777" Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 605822 Skeletal dysplasia;HP:0002652 26987875 False 3 100;0;0 0.302 False ENSG00000015532 ENSG00000015532 HGNC:15517 YY1 gene YY1 Expert Review Green;Literature;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Gabriele-de Vries syndrome 617557;Gabriele-de Vries syndrome 617557" Skeletal dysplasia;HP:0002652 28575647 False 3 100;0;0 0.302 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZMPSTE24 gene ZMPSTE24 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Restrictive dermopathy, lethal 275210;Mandibuloacral dysplasia with type B lipodystrophy 608612 Skeletal dysplasia;HP:0002652 False 3 100;0;0 0.302 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZSWIM6 gene ZSWIM6 Expert Review;Expert Review Green;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 Skeletal dysplasia;HP:0002652 25105228 False 3 50;50;0 0.302 False ENSG00000130449 ENSG00000130449 HGNC:29316 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Amber;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9 614209 Skeletal dysplasia;HP:0002652 21493627;24886560 False 2 33;67;0 0.302 False ENSG00000108641 ENSG00000108641 HGNC:24123 BNIP1 gene BNIP1 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal spondyloepiphyseal dysplasia MONDO:0016761 Skeletal dysplasia;HP:0002652 35266227;31344970 False 2 0;100;0 0.302 True ENSG00000113734 ENSG00000113734 HGNC:1082 CHST11 gene CHST11 Expert list;Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167" Skeletal dysplasia;HP:0002652 26436107;29514872 False 2 0;100;0 0.302 True ENSG00000171310 ENSG00000171310 HGNC:17422 CTGF gene CTGF Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Kyphomelic dysplasia MONDO:0008881;Spondyloepimetaphyseal dysplasia MONDO:0100510 Skeletal dysplasia;HP:0002652 39506047 False 2 0;50;50 0.302 True ENSG00000118523 ENSG00000118523 HGNC:2500 FAM20B gene FAM20B Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia MONDO:0015426 Skeletal dysplasia;HP:0002652 30847897;30105814;22732358;27405802 False 2 0;100;0 0.302 True ENSG00000116199 ENSG00000116199 HGNC:23017 FGF8 gene FGF8 Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders Unknown Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel. Skeletal dysplasia;HP:0002652 24569166;34433009 False 2 0;100;0 0.302 True ENSG00000107831 ENSG00000107831 HGNC:3686 GNPNAT1 gene GNPNAT1 Expert list;Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Skeletal dysplasia;HP:0002652 32591345 False 2 33;67;0 0.302 True ENSG00000100522 ENSG00000100522 HGNC:19980 HDAC4 gene HDAC4 Emory Genetics Laboratory;Expert list;Expert Review Amber;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Albright hereditary osteodystrophy-like syndrome;Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430;Albright hereditary osteodystrophy type 3;Brachydactyly-intellectual disability;Del(2)(q37) 600430 Skeletal dysplasia;HP:0002652 15521982;25402011;19365831;20691407 False 2 50;50;0 0.302 False ENSG00000068024 ENSG00000068024 HGNC:14063 HNRNPK gene HNRNPK Expert Review Amber;Expert Review Green;NHS GMS;Other;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM:616580;Orphanet:453499;Au-Kline syndrome:616580;Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Skeletal dysplasia;HP:0002652 26173930;26954065;26638989 False 2 100;0;0 0.302 False ENSG00000165119 ENSG00000165119 HGNC:5044 HYLS1 gene HYLS1 Emory Genetics Laboratory;Expert list;Expert Review Amber;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders Hydrolethalus syndrome MIM#236680 Skeletal dysplasia;HP:0002652 15843405;18648327;19400947;19656802;32509774;26830932 False 2 0;100;0 0.302 True ENSG00000198331 ENSG00000198331 HGNC:26558 IFT81 gene IFT81 Expert Review Amber;NHS GMS;Other Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly -617895;Short-Rib Polydactyly Syndrome Skeletal dysplasia;HP:0002652 27666822;30080953;28460050;26275418 False 2 0;100;0 0.302 False ENSG00000122970 ENSG00000122970 HGNC:14313 MANBA gene MANBA Expert Review Amber;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Beta-mannosidosis, 248510 Skeletal dysplasia;HP:0002652 18980795;16401745;2079835 False 2 100;0;0 0.302 False ENSG00000109323 ENSG00000109323 HGNC:6831 MIA3 gene MIA3 Expert list;Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Skeletal dysplasia;HP:0002652 32101163;33778321 False 2 0;100;0 0.302 True ENSG00000154305 ENSG00000154305 HGNC:24008 MTAP gene MTAP Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250 Skeletal dysplasia;HP:0002652 22464254 False 2 0;100;0 0.302 True ENSG00000099810 ENSG00000099810 HGNC:7413 RAD21 gene RAD21 Emory Genetics Laboratory;Expert list;Expert Review Amber;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4 614701 Skeletal dysplasia;HP:0002652 22633399;27620904;30716475;27882533;24378232 False 2 100;0;0 0.302 False ENSG00000164754 ENSG00000164754 HGNC:9811 RSPRY1 gene RSPRY1 Expert list;Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Skeletal dysplasia;HP:0002652 26365341 False 2 0;100;0 0.302 True ENSG00000159579 ENSG00000159579 HGNC:29420 SIK3 gene SIK3 Expert list;Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Krakow type - #618162 Skeletal dysplasia;HP:0002652 30232230;22318228 False 2 0;100;0 0.302 True ENSG00000160584 ENSG00000160584 HGNC:29165 SLC13A1 gene SLC13A1 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal sulfation-related bone disorder MONDO:0019688, SLC13A1-related Skeletal dysplasia;HP:0002652 36175384;doi: https://doi.org/10.1016/j.gimo.2024.101958 False 2 0;50;50 0.302 True ENSG00000081800 ENSG00000081800 HGNC:10916 TAPT1 gene TAPT1 Expert Review;Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897" Skeletal dysplasia;HP:0002652 26365339;36697720;36652330 False 2 0;100;0 0.302 True ENSG00000169762 ENSG00000169762 HGNC:26887 TMEM251 gene TMEM251 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Dysostosis multiplex, Ain-Naz type 619345 Skeletal dysplasia;HP:0002652 33252156 False 2 0;100;0 0.302 True ENSG00000153485 ENSG00000153485 HGNC:20218 ISCA-37394-Loss region Expert Review Green;ClinGen;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 25402011;23188045 False 3 0;0;0 0.302 False 2 239032997 241988449 3 80 cnv_loss 2q37.3 terminal region (includes HDAC4) Loss ISCA-37406-Loss region Expert Review Green;ClinGen;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 16783566;10573006 False 3 0;0;0 0.302 False 16 3725055 3880120 3 80 cnv_loss 16p13.3 region (includes CREBBP) Loss ISCA-37418-Loss region Expert Review Green;ClinGen;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Potocki-Lupski syndrome;Smith-Magenis syndrome;moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems;182290;Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance;hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies;Dental abnormalities;hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders Skeletal dysplasia;HP:0002652 False 3 0;0;0 0.302 False 17 16853797 20316338 3 80 cnv_loss 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37434-Loss region Expert Review Green;ClinGen;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;1p36 deletion syndrome;large anterior fontanels;large, late-closing anterior fontanel;deep-set eyes;central nervous system anomalies;pointed chin;heart defects;poor/absent speech;hypotonia;brachycephaly;hearing impairment;607872;growth impairment;flat nose;nasal bridge;mental retardation;seizures;epicanthus;microbrachycephaly;posteriorly rotated, low-set, abnormal ears;developmental delay;distinct dysmorphic features Skeletal dysplasia;HP:0002652 18245432;17918734;22766398 False 3 0;0;0 0.302 False 1 898703 6229913 3 80 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37441-Loss region Expert Review Green;ClinGen;NHS GMS Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown parietal foramina;mental retardation;intellectual disability;ophthalmologic anomalies;Potocki-Shaffer syndrome;myopia;biparietal foramina;enlarged anterior fontanel;minor craniofacial anomalies;genital abnormalities in males;developmental delay;multiple exostoses;strabismus;601224 Skeletal dysplasia;HP:0002652 15852040;20140962;16319823 False 3 0;0;0 0.302 False 11 43873250 46130899 3 80 cnv_loss 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37501-Loss region Expert Review Green;Expert list Skeletal dysplasia Skeletal dysplasias Skeletal disorders 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 Skeletal dysplasia;HP:0002652 20206336;22052739 False 3 0;0;0 0.302 False 17 60035641 62198448 3 80 cnv_loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss