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 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