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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2036",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2034",
"results": [
{
"created": "2019-12-17T13:07:12.184325+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA7 was added\ngene: SPATA7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: SPATA7 was set to ",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:11.926709+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: SOX11 was set to \nPhenotypes for gene: SOX11 were set to Coffin-Siris syndrome",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:11.746545+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCE1 was added\ngene: SMARCE1 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: SMARCE1 was set to \nPhenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:11.577676+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: SMARCB1 was set to \nPhenotypes for gene: SMARCB1 were set to Coffin Siris syndrome",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:11.421574+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: SMARCA4 was set to \nPhenotypes for gene: SMARCA4 were set to Coffin Siris syndrome",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:11.235326+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA2 was added\ngene: SMARCA2 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: SMARCA2 was set to \nPhenotypes for gene: SMARCA2 were set to Coffin Siris syndrome",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:10.966563+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLCO5A1 was added\ngene: SLCO5A1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS,Expert list\nMode of inheritance for gene: SLCO5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLCO5A1 were set to 20602915\nPhenotypes for gene: SLCO5A1 were set to Mesomelia-synostoses syndrome 600383; Mesomelia-synostoses syndrome\t600383",
"entity_name": "SLCO5A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:10.679233+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHH was added\ngene: SHH was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHH were set to 25782671\nPhenotypes for gene: SHH were set to Preaxial polydactyly type 1 (PPD1)",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:10.491885+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEM1 was added\ngene: SEM1 was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: SEM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEM1 were set to SHFM1",
"entity_name": "SEM1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:10.189528+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:09.975154+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: SCNN1G was set to ",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:09.782390+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: SCNN1B was set to ",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:09.490371+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: SCNN1A was set to ",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:09.338770+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH9 was added\ngene: RSPH9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RSPH9 was set to ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:09.161289+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH4A was added\ngene: RSPH4A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RSPH4A was set to ",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:08.959157+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RPGRIP1 was set to ",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:08.811243+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RPGR was set to ",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:08.540265+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RPE65 was set to ",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:08.355702+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPPLY2 was added\ngene: RIPPLY2 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: RIPPLY2 was set to \nPublications for gene: RIPPLY2 were set to 25343988; 26238661\nPhenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6 - 616566",
"entity_name": "RIPPLY2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:08.193364+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RDH12 was set to ",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:08.039373+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RD3 was added\ngene: RD3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: RD3 was set to ",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:07.865649+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: RAB3GAP2 was set to \nPhenotypes for gene: RAB3GAP2 were set to Martsolf syndrome",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:07.724547+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPRQ was added\ngene: PTPRQ was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: PTPRQ was set to \nPhenotypes for gene: PTPRQ were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813",
"entity_name": "PTPRQ",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:07.548851+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD1 was added\ngene: PLOD1 was added to Skeletal dysplasia. Sources: Expert\nMode of inheritance for gene: PLOD1 was set to ",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:07.268077+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLK4 was added\ngene: PLK4 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: PLK4 was set to \nPhenotypes for gene: PLK4 were set to Microcephalic primordial dwarfism",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:07.127536+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEKHM1 was added\ngene: PLEKHM1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red\nMode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLEKHM1 were set to 17997709; 17404618; 27291868\nPhenotypes for gene: PLEKHM1 were set to Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal recessive 6 611497; Osteopetrosis, autosomal dominant 3 - 618107",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:06.932294+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: PKHD1 was set to ",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:06.751895+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD2 was added\ngene: PKD2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: PKD2 was set to ",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:06.587467+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIR was added\ngene: PIR was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: PIR was set to Unknown\nPublications for gene: PIR were set to 16183656; 19766747\nPhenotypes for gene: PIR were set to Osteoporosis",
"entity_name": "PIR",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:06.433062+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIN1 was added\ngene: PIN1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: PIN1 was set to Unknown\nPublications for gene: PIN1 were set to 24569166\nPhenotypes for gene: PIN1 were set to No phenotype associated with this gene",
"entity_name": "PIN1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:06.244929+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: PIK3CA was set to \nPhenotypes for gene: PIK3CA were set to CLOVES 612918",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:06.093731+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: PHF6 was set to \nPhenotypes for gene: PHF6 were set to Coffin-Siris syndrome",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:05.756632+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDH15 was added\ngene: PCDH15 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: PCDH15 was set to ",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:05.598720+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OAT was added\ngene: OAT was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: OAT was set to \nPhenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:05.446060+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPPC was added\ngene: NPPC was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: NPPC was set to Unknown\nPublications for gene: NPPC were set to 11259675\nPhenotypes for gene: NPPC were set to Overgrowth syndrome with 2q37 translocations",
"entity_name": "NPPC",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:05.258512+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: NPHP4 was set to ",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:05.109667+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Meckel syndrome 7 267010",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:04.887809+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: NPHP1 was set to ",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:04.734022+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NODAL was added\ngene: NODAL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: NODAL was set to ",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:04.445594+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NME8 was added\ngene: NME8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: NME8 was set to ",
"entity_name": "NME8",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:04.274414+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: NKX2-5 was set to ",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:04.113216+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIN was added\ngene: NIN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NIN were set to 23665482; 22933543\nPhenotypes for gene: NIN were set to Seckel syndrome 7 614851",
"entity_name": "NIN",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:03.938345+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK8 was added\ngene: NEK8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: NEK8 was set to ",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:03.759976+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO7A was added\ngene: MYO7A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: MYO7A was set to ",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:03.602094+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTAP was added\ngene: MTAP was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:03.433428+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP14 was added\ngene: MMP14 was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP14 were set to 22922033\nPhenotypes for gene: MMP14 were set to Winchester syndrome 277950",
"entity_name": "MMP14",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:03.190055+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM5 was added\ngene: MCM5 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM5 were set to 28198391\nPhenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8\t617564",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:02.913709+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2C1 was added\ngene: MAN2C1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: MAN2C1 was set to Unknown\nPublications for gene: MAN2C1 were set to 6220608\nPhenotypes for gene: MAN2C1 were set to alpha-Mannosidosis",
"entity_name": "MAN2C1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:02.739622+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP2 was added\ngene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: LTBP2 was set to \nPublications for gene: LTBP2 were set to 22539340\nPhenotypes for gene: LTBP2 were set to Weill-Marchesani",
"entity_name": "LTBP2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:02.555629+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP6 was added\ngene: LRP6 was added to Skeletal dysplasia. Sources: Expert\nMode of inheritance for gene: LRP6 was set to ",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:02.385054+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: LRAT was set to ",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:02.251062+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LOXL3 was added\ngene: LOXL3 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert Review\nMode of inheritance for gene: LOXL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LOXL3 were set to 25663169\nPhenotypes for gene: LOXL3 were set to Stickler syndrome",
"entity_name": "LOXL3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:02.080252+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LFNG was added\ngene: LFNG was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red\nMode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LFNG were set to 30196550; 16385447\nPhenotypes for gene: LFNG were set to Spondylocostal dysostosis 3, autosomal recessive 609813",
"entity_name": "LFNG",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:01.861289+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEFTY2 was added\ngene: LEFTY2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: LEFTY2 was set to ",
"entity_name": "LEFTY2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:01.706677+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCA5 was added\ngene: LCA5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: LCA5 was set to ",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:01.230770+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ13 was added\ngene: KCNJ13 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: KCNJ13 was set to ",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:01.053556+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: IQCB1 was set to ",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:00.876351+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: INVS was set to ",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:00.713801+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IMPDH1 was added\ngene: IMPDH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: IMPDH1 was set to ",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:00.548984+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT88 was added\ngene: IFT88 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list\nMode of inheritance for gene: IFT88 was set to Unknown\nPublications for gene: IFT88 were set to 23034798",
"entity_name": "IFT88",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:00.348517+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDH2 was added\ngene: IDH2 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: IDH2 was set to Unknown\nPublications for gene: IDH2 were set to 22057234; 22057236; 24049096\nPhenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 613657; Ollier disease/ Dyschondroplasia 166000; Maffucci syndrome 614569; Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)",
"entity_name": "IDH2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:00.145875+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: HYLS1 was set to ",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:59.953811+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXD11 was added\ngene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: HOXD11 was set to \nPublications for gene: HOXD11 were set to Fleischman 2013 Blood 122:4837 https://protect-au.mimecast.com/s/EaaSC2xMxLhpLoOwh9oxHM?domain=bloodjournal.org (not in PubMed)",
"entity_name": "HOXD11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:59.792347+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA11 was added\ngene: HOXA11 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red\nMode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HOXA11 were set to 11101832\nPhenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:59.522756+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC5 was added\ngene: HDAC5 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: HDAC5 was set to Unknown\nPublications for gene: HDAC5 were set to 26723575\nPhenotypes for gene: HDAC5 were set to osteoporosis",
"entity_name": "HDAC5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:59.344306+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2D was added\ngene: GUCY2D was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: GUCY2D was set to ",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:59.198688+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GREM1 was added\ngene: GREM1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red\nMode of inheritance for gene: GREM1 was set to Unknown\nPublications for gene: GREM1 were set to 22561515; 19229034",
"entity_name": "GREM1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:58.971905+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS2 was added\ngene: GLIS2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: GLIS2 was set to ",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:58.829797+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF3 was added\ngene: GDF3 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: GDF3 was set to \nPublications for gene: GDF3 were set to 19864492\nPhenotypes for gene: GDF3 were set to Klippel-Feil anomaly with laryngeal malformation - 613702",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:58.656295+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF1 was added\ngene: GDF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: GDF1 was set to ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:58.513265+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXH1 was added\ngene: FOXH1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: FOXH1 was set to ",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:58.349804+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC1 was added\ngene: FOXC1 was added to Skeletal dysplasia. Sources: UKGTN,Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXC1 were set to 27193493",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:58.071307+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FMN1 was added\ngene: FMN1 was added to Skeletal dysplasia. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Expert Review Red\nMode of inheritance for gene: FMN1 was set to Unknown\nPhenotypes for gene: FMN1 were set to Animal models with skeletal dysplastic phenotypes",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:57.880931+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF9 was added\ngene: FGF9 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF9 were set to 19589401\nPhenotypes for gene: FGF9 were set to ?Multiple synostoses syndrome type 3 612961",
"entity_name": "FGF9",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:57.728338+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: FGF8 was set to Unknown\nPublications for gene: FGF8 were set to 24569166\nPhenotypes for gene: FGF8 were set to Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:57.571457+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXW4 was added\ngene: FBXW4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: FBXW4 was set to Unknown\nPublications for gene: FBXW4 were set to 19584065; 18067070\nPhenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560\nMode of pathogenicity for gene: FBXW4 was set to Other - please provide details in the comments",
"entity_name": "FBXW4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:57.379462+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBLIM1 was added\ngene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: FBLIM1 was set to \nPublications for gene: FBLIM1 were set to 29912021\nPhenotypes for gene: FBLIM1 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628",
"entity_name": "FBLIM1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:57.232725+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETF1 was added\ngene: ETF1 was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: ETF1 was set to Unknown\nPublications for gene: ETF1 were set to 19631775",
"entity_name": "ETF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:57.090255+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESR1 was added\ngene: ESR1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert\nMode of inheritance for gene: ESR1 was set to ",
"entity_name": "ESR1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:56.849676+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EP300 was added\ngene: EP300 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: EP300 was set to \nPhenotypes for gene: EP300 were set to Rubinstein Taybi syndrome; Rubinstein-Taybi syndrome 180849",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:56.689702+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM3 was added\ngene: DPM3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: DPM3 was set to Unknown\nPhenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937",
"entity_name": "DPM3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:56.492192+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DPM2 was added\ngene: DPM2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu\t615042",
"entity_name": "DPM2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:56.184437+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOLPP1 was added\ngene: DOLPP1 was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: DOLPP1 was set to Unknown\nPhenotypes for gene: DOLPP1 were set to Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)",
"entity_name": "DOLPP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:56.056273+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAL1 was added\ngene: DNAL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAL1 was set to ",
"entity_name": "DNAL1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:55.875528+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI2 was added\ngene: DNAI2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAI2 was set to ",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:55.734661+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAI1 was added\ngene: DNAI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAI1 was set to ",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:55.577751+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAH5 was set to ",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:55.430981+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH11 was added\ngene: DNAH11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAH11 was set to ",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:55.258099+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF3 was added\ngene: DNAAF3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAAF3 was set to ",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:54.939245+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF2 was added\ngene: DNAAF2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAAF2 was set to ",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:54.777203+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAAF1 was added\ngene: DNAAF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: DNAAF1 was set to ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:54.630959+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX6 was added\ngene: DLX6 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: DLX6 was set to Unknown\nPublications for gene: DLX6 were set to 28611547\nPhenotypes for gene: DLX6 were set to Split-hand/foot malformation 1 with sensorineural hearing loss 220600; Split-hand/foot malformation 1 183600",
"entity_name": "DLX6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:54.336804+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DACT1 was added\ngene: DACT1 was added to Skeletal dysplasia. Sources: Other,Literature\nMode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DACT1 were set to 22610794; 19701191; 28054444\nPhenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2",
"entity_name": "DACT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:54.160950+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP26B1 was added\ngene: CYP26B1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: CYP26B1 was set to \nPhenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:53.952986+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRX was added\ngene: CRX was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CRX was set to ",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:53.780700+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CRELD1 was set to ",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:53.642235+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRB1 was added\ngene: CRB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CRB1 was set to ",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:53.480305+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COLEC10 was added\ngene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: COLEC10 was set to \nPublications for gene: COLEC10 were set to 28301481\nPhenotypes for gene: COLEC10 were set to 3MC syndrome 3 -248340",
"entity_name": "COLEC10",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:53.343266+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL5A1 was added\ngene: COL5A1 was added to Skeletal dysplasia. Sources: Expert\nMode of inheritance for gene: COL5A1 was set to ",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:53.179116+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL12A1 was added\ngene: COL12A1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: COL12A1 was set to \nPhenotypes for gene: COL12A1 were set to Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)",
"entity_name": "COL12A1",
"entity_type": "gene"
}
]
}