{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2038","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2036","results":[{"created":"2019-12-17T13:06:36.172478+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMOC1 was added\ngene: SMOC1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green\nMode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMOC1 were set to 21194680; 21194678\nPhenotypes for gene: SMOC1 were set to Ophthalmo-acromelic syndrome; Polydactyly; Microphthalmia with limb anomalies 206920","entity_name":"SMOC1","entity_type":"gene"},{"created":"2019-12-17T13:06:35.988133+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC3 was added\ngene: SMC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3 610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2019-12-17T13:06:35.829722+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2 300590","entity_name":"SMC1A","entity_type":"gene"},{"created":"2019-12-17T13:06:35.666940+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia\t242900; Schimke immunoosseous dysplasia 242900","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2019-12-17T13:06:35.542614+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Myhre syndrome 139210; Myhre syndrome\t139210","entity_name":"SMAD4","entity_type":"gene"},{"created":"2019-12-17T13:06:35.407907+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD3 was added\ngene: SMAD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795","entity_name":"SMAD3","entity_type":"gene"},{"created":"2019-12-17T13:06:35.238890+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLCO2A1 was added\ngene: SLCO2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2\t614441; Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2019-12-17T13:06:35.104269+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A13 was added\ngene: SLC39A13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A13 were set to Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350","entity_name":"SLC39A13","entity_type":"gene"},{"created":"2019-12-17T13:06:34.920114+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35D1 was added\ngene: SLC35D1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia 269250; Schneckenbecken dysplasia\t269250","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2019-12-17T13:06:34.786780+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC35C1 was added\ngene: SLC35C1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green\nMode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35C1 were set to 12476046; 11326280\nPhenotypes for gene: SLC35C1 were set to GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IIc 266265","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2019-12-17T13:06:34.667965+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC34A3 was added\ngene: SLC34A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria 241530","entity_name":"SLC34A3","entity_type":"gene"},{"created":"2019-12-17T13:06:34.513136+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC34A1 was added\ngene: SLC34A1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green\nMode of inheritance for gene: SLC34A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC34A1 were set to 12324554; 25050900; 9560283\nPhenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286","entity_name":"SLC34A1","entity_type":"gene"},{"created":"2019-12-17T13:06:34.276279+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC29A3 was added\ngene: SLC29A3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome 602782","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2019-12-17T13:06:34.156583+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A2 was added\ngene: SLC26A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to multiple epiphyseal dysplasia; Epiphyseal dysplasia, multiple, 4; ACG1B,DD,rMED; Multiple Epiphyseal Dysplasia, Recessive","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2019-12-17T13:06:34.010713+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC17A5 was added\ngene: SLC17A5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile 269920","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2019-12-17T13:06:33.845704+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC10A7 was added\ngene: SLC10A7 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green\nMode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A7 were set to 30082715\nPhenotypes for gene: SLC10A7 were set to skeletal dysplasia and amelogenesis imperfecta; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2019-12-17T13:06:33.726862+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKI was added\ngene: SKI was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome 182212","entity_name":"SKI","entity_type":"gene"},{"created":"2019-12-17T13:06:33.587859+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHOX was added\ngene: SHOX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582; Langer mesomelic dysplasia 249700","entity_name":"SHOX","entity_type":"gene"},{"created":"2019-12-17T13:06:33.457556+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH3PXD2B was added\ngene: SH3PXD2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome 249420","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2019-12-17T13:06:33.292473+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SH3BP2 was added\ngene: SH3BP2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SH3BP2 were set to Cherubism 118400","entity_name":"SH3BP2","entity_type":"gene"},{"created":"2019-12-17T13:06:33.139563+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGSH was added\ngene: SGSH was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900","entity_name":"SGSH","entity_type":"gene"},{"created":"2019-12-17T13:06:32.911221+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SFRP4 was added\ngene: SFRP4 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SFRP4 were set to 28100910; 27355534; 26273529; 27117872; 20174869; 24096177; 22965941; 22387305\nPhenotypes for gene: SFRP4 were set to PYL; Pyle disease 265900; Metaphyseal dysplasia","entity_name":"SFRP4","entity_type":"gene"},{"created":"2019-12-17T13:06:32.784126+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SF3B4 was added\ngene: SF3B4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type 154400","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-17T13:06:32.648219+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SETD2 was added\ngene: SETD2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SETD2 were set to Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome\t616831","entity_name":"SETD2","entity_type":"gene"},{"created":"2019-12-17T13:06:32.503638+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINH1 was added\ngene: SERPINH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINH1 were set to 20188343; 25510505\nPhenotypes for gene: SERPINH1 were set to 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","entity_name":"SERPINH1","entity_type":"gene"},{"created":"2019-12-17T13:06:32.347789+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINF1 was added\ngene: SERPINF1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINF1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis Imperfecta, Recessive; Osteogenesis imperfecta, type VI, 613982","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2019-12-17T13:06:32.189127+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEC24D was added\ngene: SEC24D was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green\nMode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24D were set to 25683121\nPhenotypes for gene: SEC24D were set to Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA; Osteogenesis Imperfecta, Cole Carpenter syndrome","entity_name":"SEC24D","entity_type":"gene"},{"created":"2019-12-17T13:06:32.059804+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCARF2 was added\ngene: SCARF2 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome 600920","entity_name":"SCARF2","entity_type":"gene"},{"created":"2019-12-17T13:06:31.931766+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SBDS was added\ngene: SBDS was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Expert Review\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome\t260400; Shwachman-Diamond syndrome 260400","entity_name":"SBDS","entity_type":"gene"},{"created":"2019-12-17T13:06:30.399142+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SALL4 was added\ngene: SALL4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL4 were set to IVIC syndrome 147750; Okihiro (Duane-radial ray) syndrome 607323","entity_name":"SALL4","entity_type":"gene"},{"created":"2019-12-17T13:06:30.248040+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SALL1 was added\ngene: SALL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL1 were set to Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480","entity_name":"SALL1","entity_type":"gene"},{"created":"2019-12-17T13:06:29.985492+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUNX2 was added\ngene: RUNX2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX2 were set to Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600","entity_name":"RUNX2","entity_type":"gene"},{"created":"2019-12-17T13:06:29.819171+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL13 was added\ngene: RPL13 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green\nMode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPL13 were set to 31630789\nPhenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature","entity_name":"RPL13","entity_type":"gene"},{"created":"2019-12-17T13:06:29.697819+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to COACH syndrome 216360; Joubert syndrome 7 611560; Meckel syndrome 5 611561","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2019-12-17T13:06:29.537686+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ROR2 was added\ngene: ROR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310","entity_name":"ROR2","entity_type":"gene"},{"created":"2019-12-17T13:06:29.383329+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2019-12-17T13:06:29.263309+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RMRP was added\ngene: RMRP was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095; Cartilage-hair hypoplasia 250250","entity_name":"RMRP","entity_type":"gene"},{"created":"2019-12-17T13:06:29.108156+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFT1 was added\ngene: RFT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In 612015","entity_name":"RFT1","entity_type":"gene"},{"created":"2019-12-17T13:06:28.945656+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RECQL4 was added\ngene: RECQL4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600; RAPILINO syndrome 266280","entity_name":"RECQL4","entity_type":"gene"},{"created":"2019-12-17T13:06:28.824567+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBPJ was added\ngene: RBPJ was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBPJ were set to 28160419; 22883147; 29924900\nPhenotypes for gene: RBPJ were set to Adams-Oliver syndrome 3, 614814","entity_name":"RBPJ","entity_type":"gene"},{"created":"2019-12-17T13:06:28.693736+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBM8A was added\ngene: RBM8A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome 274000","entity_name":"RBM8A","entity_type":"gene"},{"created":"2019-12-17T13:06:28.546088+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RASGRP2 was added\ngene: RASGRP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RASGRP2 were set to 18709451; 24958846\nPhenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects; Bleeding disorder, platelet-type, 18 615888","entity_name":"RASGRP2","entity_type":"gene"},{"created":"2019-12-17T13:06:28.429730+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB33B was added\ngene: RAB33B was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB33B were set to 23042644; 28127940; 22652534; 16470731\nPhenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 615222","entity_name":"RAB33B","entity_type":"gene"},{"created":"2019-12-17T13:06:28.294078+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB23 was added\ngene: RAB23 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome 201000","entity_name":"RAB23","entity_type":"gene"},{"created":"2019-12-17T13:06:28.147523+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYCR1 was added\ngene: PYCR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB 614438; Cutis laxa, autosomal recessive, type IIB 612940","entity_name":"PYCR1","entity_type":"gene"},{"created":"2019-12-17T13:06:28.022723+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUF60 was added\ngene: PUF60 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Other,Expert Review Green\nMode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PUF60 were set to 28327570; 24140112; 27804958\nPhenotypes for gene: PUF60 were set to Verheij syndrome, 615583; Chromosome 8q24.3 deletion syndrome; VRJS; PUF60 syndrome","entity_name":"PUF60","entity_type":"gene"},{"created":"2019-12-17T13:06:27.900056+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN11 was added\ngene: PTPN11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; Metachondromatosis 156250; LEOPARD syndrome 1\t151100","entity_name":"PTPN11","entity_type":"gene"},{"created":"2019-12-17T13:06:27.746037+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTHLH was added\ngene: PTHLH was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTHLH were set to Brachydactyly, type E2\t613382; Brachydactyly, type E2 613382","entity_name":"PTHLH","entity_type":"gene"},{"created":"2019-12-17T13:06:27.624763+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTH1R was added\ngene: PTH1R was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PTH1R were set to Eiken syndrome 600002; Chondrodysplasia, Blomstrand type 215045; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400","entity_name":"PTH1R","entity_type":"gene"},{"created":"2019-12-17T13:06:27.498310+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTDSS1 was added\ngene: PTDSS1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism 151050","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2019-12-17T13:06:27.389016+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSPH was added\ngene: PSPH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency 614023","entity_name":"PSPH","entity_type":"gene"},{"created":"2019-12-17T13:06:27.257248+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSAT1 was added\ngene: PSAT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038","entity_name":"PSAT1","entity_type":"gene"},{"created":"2019-12-17T13:06:27.136889+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRMT7 was added\ngene: PRMT7 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green\nMode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRMT7 were set to Short stature, brachydactyly, intellectual developmental disability, and seizures  617157","entity_name":"PRMT7","entity_type":"gene"},{"created":"2019-12-17T13:06:26.953441+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKAR1A was added\ngene: PRKAR1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PRKAR1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRKAR1A were set to Pigmented nodular adrenocortical disease, primary, 1 610489; Acrodysostosis 1, with or without hormone resistance 101800; Myxoma, intracardiac 255960","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2019-12-17T13:06:26.794082+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIB was added\ngene: PPIB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440; Osteogenesis imperfecta, type IX\t259440","entity_name":"PPIB","entity_type":"gene"},{"created":"2019-12-17T13:06:26.633949+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POR was added\ngene: POR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571","entity_name":"POR","entity_type":"gene"},{"created":"2019-12-17T13:06:26.483411+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POP1 was added\ngene: POP1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POP1 were set to 27380734; 28067412; 21455487\nPhenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396","entity_name":"POP1","entity_type":"gene"},{"created":"2019-12-17T13:06:26.370203+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1D was added\ngene: POLR1D was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717","entity_name":"POLR1D","entity_type":"gene"},{"created":"2019-12-17T13:06:26.213224+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1C was added\ngene: POLR1C was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1C were set to Treacher Collins syndrome 3 248390","entity_name":"POLR1C","entity_type":"gene"},{"created":"2019-12-17T13:06:26.065020+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1A was added\ngene: POLR1A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR1A were set to 25913037\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type 616462","entity_name":"POLR1A","entity_type":"gene"},{"created":"2019-12-17T13:06:25.907564+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POC1A was added\ngene: POC1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC1A were set to 26374189; 26162852; 26336158\nPhenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis\t614813","entity_name":"POC1A","entity_type":"gene"},{"created":"2019-12-17T13:06:25.780187+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLS3 was added\ngene: PLS3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green\nMode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis 300910","entity_name":"PLS3","entity_type":"gene"},{"created":"2019-12-17T13:06:25.660402+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLOD2 was added\ngene: PLOD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD2 were set to Bruck syndrome 2 609220","entity_name":"PLOD2","entity_type":"gene"},{"created":"2019-12-17T13:06:25.539898+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PITX1 was added\ngene: PITX1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PITX1 were set to 23587911; 23022097; 30459804\nPhenotypes for gene: PITX1 were set to Liebenberg syndrome 186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800","entity_name":"PITX1","entity_type":"gene"},{"created":"2019-12-17T13:06:25.392625+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIK3R1 was added\ngene: PIK3R1 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3R1 were set to SHORT syndrome 269880","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2019-12-17T13:06:25.267791+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIK3C2A was added\ngene: PIK3C2A was added to Skeletal dysplasia. Sources: Literature,Expert Review Green\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3C2A were set to 31034465\nPhenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome 618440","entity_name":"PIK3C2A","entity_type":"gene"},{"created":"2019-12-17T13:06:25.152176+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIGV was added\ngene: PIGV was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300","entity_name":"PIGV","entity_type":"gene"},{"created":"2019-12-17T13:06:24.993995+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIGT was added\ngene: PIGT was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGT were set to 28327575; 29868109\nPhenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398","entity_name":"PIGT","entity_type":"gene"},{"created":"2019-12-17T13:06:24.884144+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PHGDH was added\ngene: PHGDH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency 601815; Neu-Laxova syndrome 1 256520","entity_name":"PHGDH","entity_type":"gene"},{"created":"2019-12-17T13:06:24.725028+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PHEX was added\ngene: PHEX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800","entity_name":"PHEX","entity_type":"gene"},{"created":"2019-12-17T13:06:24.555892+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGM3 was added\ngene: PGM3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM3 were set to 24931394\nPhenotypes for gene: PGM3 were set to Immunodeficiency 23\t615816; Immunodeficiency 23 615816","entity_name":"PGM3","entity_type":"gene"},{"created":"2019-12-17T13:06:24.448018+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PEX7 was added\ngene: PEX7 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX7 were set to 28742517; 7719337; 25800479\nPhenotypes for gene: PEX7 were set to Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100","entity_name":"PEX7","entity_type":"gene"},{"created":"2019-12-17T13:06:24.301069+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PEX5 was added\ngene: PEX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX5 were set to 18712838\nPhenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5 616716; Peroxisome biogenesis disorder 2A (Zellweger) 214110","entity_name":"PEX5","entity_type":"gene"},{"created":"2019-12-17T13:06:24.141907+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE4D was added\ngene: PDE4D was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance\t614613; Acrodysostosis 2, with or without hormone resistance 614613","entity_name":"PDE4D","entity_type":"gene"},{"created":"2019-12-17T13:06:23.972169+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE3A was added\ngene: PDE3A was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE3A were set to 25961942; 9696728\nPhenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410\nMode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"PDE3A","entity_type":"gene"},{"created":"2019-12-17T13:06:23.858950+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCYT1A was added\ngene: PCYT1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Spondylometaphyseal dysplasia with cone-rod dystrophy\t608940","entity_name":"PCYT1A","entity_type":"gene"},{"created":"2019-12-17T13:06:23.738102+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCNT was added\ngene: PCNT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720","entity_name":"PCNT","entity_type":"gene"},{"created":"2019-12-17T13:06:23.588034+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAX3 was added\ngene: PAX3 was added to Skeletal dysplasia. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Green\nMode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PAX3 were set to 7726174; 26443304; 12949970; 30173992; 8447316; 11683776; 6340503\nPhenotypes for gene: PAX3 were set to Waardenburg syndrome, type 3, 148820; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 1, 193500","entity_name":"PAX3","entity_type":"gene"},{"created":"2019-12-17T13:06:23.476114+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAPSS2 was added\ngene: PAPSS2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847","entity_name":"PAPSS2","entity_type":"gene"},{"created":"2019-12-17T13:06:23.371437+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P4HB was added\ngene: P4HB was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green\nMode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P4HB were set to 25683117; 29384951; 30063094\nPhenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1\t112240; Cole-Carpenter syndrome 1 112240\nMode of pathogenicity for gene: P4HB was set to Other","entity_name":"P4HB","entity_type":"gene"},{"created":"2019-12-17T13:06:23.259591+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P3H1 was added\ngene: P3H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII 610915","entity_name":"P3H1","entity_type":"gene"},{"created":"2019-12-17T13:06:23.122924+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OSTM1 was added\ngene: OSTM1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5 259720","entity_name":"OSTM1","entity_type":"gene"},{"created":"2019-12-17T13:06:23.005465+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ORC6 was added\ngene: ORC6 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3 613803; Meier-Gorlin syndrome 3\t613803","entity_name":"ORC6","entity_type":"gene"},{"created":"2019-12-17T13:06:22.875241+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ORC4 was added\ngene: ORC4 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2\t613800; Meier-Gorlin syndrome 2 613800","entity_name":"ORC4","entity_type":"gene"},{"created":"2019-12-17T13:06:22.754807+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ORC1 was added\ngene: ORC1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1 224690; Meier-Gorlin syndrome 1\t224690","entity_name":"ORC1","entity_type":"gene"},{"created":"2019-12-17T13:06:22.605292+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OFD1 was added\ngene: OFD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: OFD1 were set to Orofaciodigital syndrome I 311200 XLD; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Joubert syndrome 10 300804","entity_name":"OFD1","entity_type":"gene"},{"created":"2019-12-17T13:06:22.468726+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OBSL1 was added\ngene: OBSL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OBSL1 were set to 3-M syndrome 2 612921","entity_name":"OBSL1","entity_type":"gene"},{"created":"2019-12-17T13:06:22.369102+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSDHL was added\ngene: NSDHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050","entity_name":"NSDHL","entity_type":"gene"},{"created":"2019-12-17T13:06:22.225323+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSD1 was added\ngene: NSD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NSD1 were set to Sotos syndrome 1 117550","entity_name":"NSD1","entity_type":"gene"},{"created":"2019-12-17T13:06:22.081153+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NPR2 was added\ngene: NPR2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923; Acromesomelic dysplasia, Maroteaux type 602875","entity_name":"NPR2","entity_type":"gene"},{"created":"2019-12-17T13:06:21.939223+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH2 was added\ngene: NOTCH2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH2 were set to Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500","entity_name":"NOTCH2","entity_type":"gene"},{"created":"2019-12-17T13:06:21.824387+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH1 was added\ngene: NOTCH1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review,Expert Review Green\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOTCH1 were set to 27077170; 25963545; 25132448\nPhenotypes for gene: NOTCH1 were set to 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","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2019-12-17T13:06:21.708003+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOG was added\ngene: NOG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOG were set to 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","entity_name":"NOG","entity_type":"gene"},{"created":"2019-12-17T13:06:21.574808+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLRP3 was added\ngene: NLRP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NLRP3 were set to Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115","entity_name":"NLRP3","entity_type":"gene"},{"created":"2019-12-17T13:06:21.421420+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NKX3-2 was added\ngene: NKX3-2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN\nMode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia 613330","entity_name":"NKX3-2","entity_type":"gene"},{"created":"2019-12-17T13:06:21.288732+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIPBL was added\ngene: NIPBL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NIPBL were set to 29379197; 29440723\nPhenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1 122470","entity_name":"NIPBL","entity_type":"gene"},{"created":"2019-12-17T13:06:21.137094+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFIX was added\ngene: NFIX was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NFIX were set to Marshall-Smith syndrome 602535; Sotos syndrome 2 614753","entity_name":"NFIX","entity_type":"gene"},{"created":"2019-12-17T13:06:20.965003+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome\t601321; Neurofibromatosis, type 1\t162200; Neurofibromatosis, type 1 162200; Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, familial spinal\t162210","entity_name":"NF1","entity_type":"gene"},{"created":"2019-12-17T13:06:20.812869+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEU1 was added\ngene: NEU1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis, type I 256550; Sialidosis, type II 256550","entity_name":"NEU1","entity_type":"gene"},{"created":"2019-12-17T13:06:20.669029+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEK1 was added\ngene: NEK1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK1 were set to 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)","entity_name":"NEK1","entity_type":"gene"}]}