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 BNIP1 gene BNIP1 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondylopeiphyseal dysplasia, Holling type, MIM# 621345 Skeletal dysplasia;HP:0002652 35266227;31344970 False 2 0;100;0 0.449 True ENSG00000113734 ENSG00000113734 HGNC:1082 C16orf62 gene C16orf62 Expert list;Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Skeletal dysplasia;HP:0002652 25434475;31712251 False 2 0;100;0 0.449 True ENSG00000103544 ENSG00000103544 HGNC:24641 CENPJ gene CENPJ Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Seckel syndrome 4, MIM# 613676" Skeletal dysplasia;HP:0002652 34068194 False 2 0;100;0 0.449 True ENSG00000151849 ENSG00000151849 HGNC:17272 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 0.449 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 0.449 True ENSG00000118523 ENSG00000118523 HGNC:2500 DVL2 gene DVL2 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome MONDO:0019978 Skeletal dysplasia;HP:0002652 35047859;33599851;30521570 False 2 0;100;0 0.449 True ENSG00000004975 ENSG00000004975 HGNC:3086 FGF4 gene FGF4 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260 Skeletal dysplasia;HP:0002652 40259859 False 2 0;100;0 0.449 True ENSG00000075388 ENSG00000075388 HGNC:3682 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 0.449 True ENSG00000107831 ENSG00000107831 HGNC:3686 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 0.449 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 0.449 False ENSG00000165119 ENSG00000165119 HGNC:5044 LRRC8C gene LRRC8C Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TIMES syndrome MIM#621056 Skeletal dysplasia;HP:0002652 39623139 False 2 0;100;0 0.449 True Other ENSG00000171488 ENSG00000171488 HGNC:25075 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 0.449 False ENSG00000109323 ENSG00000109323 HGNC:6831 MET gene MET Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Osteofibrous dysplasia, susceptibility to} 607278" Skeletal dysplasia;HP:0002652 26637977 False 2 0;100;0 0.449 True ENSG00000105976 ENSG00000105976 HGNC:7029 MIR140 gene MIR140 Expert Review;Expert Review Amber 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 2 50;50;0 0.449 True Other ENSG00000208017 ENSG00000208017 HGNC:31527 MIR17HG gene MIR17HG Expert list;Expert Review Amber;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 2 0;100;0 0.449 True ENSG00000215417 ENSG00000215417 HGNC:23564 MMP14 gene MMP14 Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Winchester syndrome 277950 Skeletal dysplasia;HP:0002652 29741626;22922033;10520996 False 2 0;100;0 0.449 True ENSG00000157227 ENSG00000157227 HGNC:7160 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 0.449 True ENSG00000099810 ENSG00000099810 HGNC:7413 NMNAT1 gene NMNAT1 Expert List;Expert Review Amber Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Skeletal dysplasia;HP:0002652 32533184, 33668384 False 2 0;100;0 0.449 True ENSG00000173614 ENSG00000173614 HGNC:17877 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 0.449 False ENSG00000164754 ENSG00000164754 HGNC:9811 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 0.449 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;39925707 False 2 0;67;33 0.449 True ENSG00000081800 ENSG00000081800 HGNC:10916 SLC35B2 gene SLC35B2 Expert Review Amber;Literature Skeletal dysplasia Skeletal dysplasias Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Skeletal dysplasia;HP:0002652 PMID: 35325049 False 2 0;100;0 0.449 True ENSG00000157593 ENSG00000157593 HGNC:16872 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 0.449 True ENSG00000169762 ENSG00000169762 HGNC:26887