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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2040",
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{
"created": "2019-12-17T13:06:08.441394+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXTL3 was added\ngene: EXTL3 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to 28132690; 28148688\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities \t617425; Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:08.339135+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXT2 was added\ngene: EXT2 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: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 133701",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:08.210197+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXT1 was added\ngene: EXT1 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: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EXT1 were set to trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370; Exostoses, multiple, type 1\t133700",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:08.079961+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC2 was added\ngene: EVC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.956826+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EVC was added\ngene: EVC was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; ECV1; Ellis-van Creveld Syndrome; Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.846038+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to SC phocomelia syndrome 269000; Roberts syndrome 268300",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.760716+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERF was added\ngene: ERF 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: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERF were set to 23354439; 26097063\nPhenotypes for gene: ERF were set to Craniosynostosis 4 600775; Chitayat syndrome - 617180",
"entity_name": "ERF",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.648399+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EOGT was added\ngene: EOGT was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EOGT were set to Adams Oliver syndrome 4",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.547188+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 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: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Cole disease 615522; Arterial calcification, generalized, of infancy, 1 208000; Hypophosphatemic rickets, autosomal recessive, 2 613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.421477+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK3 was added\ngene: EIF2AK3 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: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome 226980; Wolcott-Rallison syndrome\t226980",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.307885+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFTUD2 was added\ngene: EFTUD2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFTUD2 were set to 16760738; 22305528; 19334086\nPhenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.205316+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EED was added\ngene: EED was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EED were set to 27868325; 25787343; 28229514; 27193220\nPhenotypes for gene: EED were set to Cohen-Gibson syndrome 617561; Cohen-Gibson syndrome\t617561",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.116997+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EBP was added\ngene: EBP was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: EBP 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: EBP were set to MEND syndrome; CDPXLD; MEND syndrome-300960 XLR.; X-linked dominant chondrodysplasia punctata; Chondrodysplasia punctata, X-linked dominant, 302960",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:07.017906+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2LI1 was added\ngene: DYNC2LI1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green\nMode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2LI1 were set to SRTD15 #617088; SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.923269+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYNC2H1 was added\ngene: DYNC2H1 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: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC2H1 were set to 21211617\nPhenotypes for gene: DYNC2H1 were set to 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)",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.822241+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYM was added\ngene: DYM was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYM were set to Smith-McCort dysplasia 607326; Dyggve-Melchior-Clausen disease 223800",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.740738+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DVL3 was added\ngene: DVL3 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green\nMode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL3 were set to 26924530\nPhenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3, 616894",
"entity_name": "DVL3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.638817+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DVL1 was added\ngene: DVL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DVL1 were set to 25817014; 25817016\nPhenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2\t616331",
"entity_name": "DVL1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.536763+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSPP was added\ngene: DSPP was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DSPP were set to 27973701; 29512331\nPhenotypes for gene: DSPP were set to 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",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.445594+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM1 was added\ngene: DPM1 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: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPM1 were set to 23856421; 15669674; 10642602\nPhenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.321990+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPAGT1 was added\ngene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPAGT1 were set to 12872255; 22304930; 30653653\nPhenotypes for gene: DPAGT1 were set to 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",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.239373+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK6 was added\ngene: DOCK6 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219; Adams-Oliver syndrome 2\t614219",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:06.141226+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNMT3A was added\ngene: DNMT3A was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNMT3A were set to Tatton-Brown-Rahman syndrome 615879",
"entity_name": "DNMT3A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:05.979749+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMP1 was added\ngene: DMP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert\nMode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMP1 were set to 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",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:05.871494+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX5 was added\ngene: DLX5 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLX5 were set to 27085093\nPhenotypes for gene: DLX5 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:05.780053+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX3 was added\ngene: DLX3 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: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLX3 were set to 26762616; 26104267\nPhenotypes for gene: DLX3 were set to Trichodontoosseous syndrome 190320; Amelogenesis imperfecta, type IV 104510",
"entity_name": "DLX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:05.665847+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL4 was added\ngene: DLL4 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green\nMode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLL4 were set to 26299364\nPhenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6, 616589",
"entity_name": "DLL4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:05.574037+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLL3 was added\ngene: DLL3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive 277300",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:05.443713+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIS3L2 was added\ngene: DIS3L2 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: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DIS3L2 were set to 22306653\nPhenotypes for gene: DIS3L2 were set to Perlman syndrome 267000",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:04.808267+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHODH was added\ngene: DHODH 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: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:04.146744+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Skeletal dysplasia. Sources: Other,Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 9634533\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:04.052227+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to Desmosterolosis 602398",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.963511+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDR2 was added\ngene: DDR2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type 271665; Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.881757+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP2R1 was added\ngene: CYP2R1 was added to Skeletal dysplasia. Sources: Other,Expert Review Green\nMode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2R1 were set to 22855339; 15128933; 28548312; 25942481\nPhenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation, 600081",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.801764+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP27B1 was added\ngene: CYP27B1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I 264700",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.720699+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL7 was added\ngene: CUL7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CUL7 were set to 3-M syndrome 1 273750",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.631781+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSK was added\ngene: CTSK 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: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSK were set to 28328823\nPhenotypes for gene: CTSK were set to Pycnodysostosis 265800",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.507331+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSC was added\ngene: CTSC 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: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTSC were set to 26205983; 15727652; 24966751\nPhenotypes for gene: CTSC were set to Haim-Munk syndrome 245010,; Haim-Munk syndrome 245010",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:03.134803+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTSA was added\ngene: CTSA 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: CTSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSA were set to Galactosialidosis 256540",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.943719+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSPP1 was added\ngene: CSPP1 was added to Skeletal dysplasia. Sources: NHS GMS,Other,Expert Review Green\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSPP1 were set to 24360803; 24360808\nPhenotypes for gene: CSPP1 were set to ORPHA:475 Joubert syndrome; Joubert syndrome 21 \t615636; ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome 21 615636; ORPHA:564 Meckel syndrome",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.850340+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRTAP was added\ngene: CRTAP 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: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.729237+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP 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: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome\t180849; Rubinstein-Taybi syndrome 180849",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.600087+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CREB3L1 was added\ngene: CREB3L1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review,Expert Review Green\nMode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CREB3L1 were set to 25007323; 28817112; 29936144.; 30657919\nPhenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI 616229",
"entity_name": "CREB3L1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.482774+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COMP was added\ngene: COMP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Eligibility statement prior genetic testing,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COMP were set to Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170",
"entity_name": "COMP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.306870+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLEC11 was added\ngene: COLEC11 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLEC11 were set to 28301481; 8933348; 21258343; 2569826\nPhenotypes for gene: COLEC11 were set to 3MC syndrome 2 265050",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:02.116928+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Expert Review,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL9A3 were set to 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",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.898497+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A2 was added\ngene: COL9A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL9A2 were set to Stickler syndrome, type V, 614284; Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; {Intervertebral disc disease, susceptibility to}, 603932",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.789892+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL9A1 was added\ngene: COL9A1 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: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.673858+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL2A1 was added\ngene: COL2A1 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: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL2A1 were set to 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",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.555500+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A2 was added\ngene: COL1A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL1A2 were set to 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",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.401306+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL1A1 was added\ngene: COL1A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL1A1 were set to 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",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.261045+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A2 was added\ngene: COL11A2 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: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2 614524?; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524; Weissenbacher-Zweymuller syndrome 277610; Stickler syndrome, type III 184840",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.157534+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL11A1 was added\ngene: COL11A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Eligibility statement prior genetic testing\nMode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A1 were set to Stickler syndrome, type II 604841; Fibrochondrogenesis 1 228520; Marshall syndrome 154780",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:01.056146+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL10A1 was added\ngene: COL10A1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL10A1 were set to Metaphyseal chondrodysplasia, Schmid type 156500",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.964115+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COG1 was added\ngene: COG1 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: COG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG1 were set to 19008299; 16537452\nPhenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg 611209",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.853812+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.774047+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN5 was added\ngene: CLCN5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Nephrolithiasis, type I 310468; Dent disease 300009; Hypophosphatemic rickets 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.685369+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHSY1 was added\ngene: CHSY1 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: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome 605282",
"entity_name": "CHSY1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.578168+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST3 was added\ngene: CHST3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.483881+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHST14 was added\ngene: CHST14 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: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.365337+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 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: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10; Joubert syndrome 5 610188; Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.249711+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP120 was added\ngene: CEP120 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP120 were set to 27208211\nPhenotypes for gene: CEP120 were set to Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:00.154499+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDT1 was added\ngene: CDT1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4 613804",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.989712+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C 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: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPhenotypes for gene: CDKN1C were set to IMAGE syndrome 614732",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.877833+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH3 was added\ngene: CDH3 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: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDH3 were set to 22140374; 15805154\nPhenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.762547+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC45 was added\ngene: CDC45 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC45 were set to 27374770\nPhenotypes for gene: CDC45 were set to Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.680738+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC8 was added\ngene: CCDC8 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC8 were set to 21737058\nPhenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.596903+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A 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: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CC2D2A were set to 24706459; 18513680; 23351400\nPhenotypes for gene: CC2D2A were set to Meckel syndrome 6 612284",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.483459+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalcemia, autosomal dominant 601198; Hyperparathyroidism, neonatal 239200; Hypocalciuric hypercalcemia, type I 145980",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.396039+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CANT1 was added\ngene: CANT1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CANT1 were set to multiple epiphyseal dysplasia type 7, 617719.; Desbuquois dysplasia 1 251450",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.288728+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA2 was added\ngene: CA2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.213871+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C2CD3 was added\ngene: C2CD3 was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV 615948",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.127254+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C21orf2 was added\ngene: C21orf2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert list,Expert Review Green\nMode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C21orf2 were set to 26974433\nPhenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia 602271; Spondylometaphyseal dysplasia, axial 602271",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:59.031855+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B 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: BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: BMPR1B were set to Brachydactyly, type A1, D 616849; Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A2 112600",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.917701+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPER was added\ngene: BMPER was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPER were set to Diaphanospondylodysostosis 608022",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.842795+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP2 was added\ngene: BMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP2 were set to 19327734; 29198724; 21357617\nPhenotypes for gene: BMP2 were set to {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.742822+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP1 was added\ngene: BMP1 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: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII, 614856",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.643490+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BHLHA9 was added\ngene: BHLHA9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432",
"entity_name": "BHLHA9",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.562979+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Polydactyly; Bardet Biedl syndrome 9, 615986",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.489642+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984; Polydactyly",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.416337+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Polydactyly; Bardet Biedl syndrome 5, 615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.343921+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982; Polydactyly",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.270754+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Polydactyly; Bardet-Biedl syndrome 2, 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.197487+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet Biedl syndrome 12, 615989; Polydactyly",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.123748+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10, 615987; Polydactyly",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:58.050477+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBS1 were set to 11567139; 12118255; 12677556; 12567324; 12524598; 23143442\nPhenotypes for gene: BBS1 were set to Polydactyly; Bardet-Biedl syndrome 1 209900",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.964690+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 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: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.863071+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GLCT were set to 23889335; 16909395\nPhenotypes for gene: B3GLCT were set to Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.785480+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GAT3 were set to Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.706636+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GALT6 was added\ngene: B3GALT6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.620443+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A 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: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.519778+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200; Cutis laxa, autosomal recessive, type IIA\t219200",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.437036+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL2 was added\ngene: ASXL2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ASXL2 were set to 27693232\nPhenotypes for gene: ASXL2 were set to Shashi-Pena syndrome 617190; Shashi-Pena syndrome\t617190",
"entity_name": "ASXL2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.355085+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 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: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome 605039",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.260847+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata; Chondrodysplasia punctata, X-linked recessive, 302950; CDPXL",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:57.167620+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARSB was added\ngene: ARSB 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: ARSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)\t 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:56.991662+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL6 was added\ngene: ARL6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL6 were set to 19858128; 15314642; 15258860\nPhenotypes for gene: ARL6 were set to Polydactyly; Bardet-Biedl syndrome 3 600151",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:56.911704+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGAP31 was added\ngene: ARHGAP31 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: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP31 were set to 21565291; 29924900\nPhenotypes for gene: ARHGAP31 were set to Adams-Oliver syndrome 1 100300",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:56.793108+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANTXR2 was added\ngene: ANTXR2 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: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:05:56.690204+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANO5 were set to Disproportionate Short Stature; Osteogenesis Imperfecta and Decreased Bone Density; Gnatodiaphyseal dysplasia; skeletal dysplasias",
"entity_name": "ANO5",
"entity_type": "gene"
}
]
}