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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2037",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2035",
"results": [
{
"created": "2019-12-17T13:06:53.040451+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLRN1 was added\ngene: CLRN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CLRN1 was set to ",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:52.883474+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CKAP2L was added\ngene: CKAP2L was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: CKAP2L was set to \nPhenotypes for gene: CKAP2L were set to Syndactyly with microcephaly and MR (Filippi syndrome) 272440",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:52.734134+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CFTR was set to ",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:52.456848+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CEP41 was set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:52.315863+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP164 was added\ngene: CEP164 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CEP164 was set to ",
"entity_name": "CEP164",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:52.156124+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH23 was added\ngene: CDH23 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CDH23 was set to ",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:52.013012+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC6 was added\ngene: CDC6 was added to Skeletal dysplasia. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC6 were set to Meier-Gorlin syndrome 5\t613805",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:51.843902+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD96 was added\ngene: CD96 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: CD96 was set to \nPhenotypes for gene: CD96 were set to C-syndrome 217750 (opitz trigonocephaly)",
"entity_name": "CD96",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:51.681260+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC40 was added\ngene: CCDC40 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CCDC40 was set to ",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:51.547369+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: CCDC39 was set to ",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:51.374517+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC28B was added\ngene: CCDC28B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red\nMode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC28B were set to 23015189\nPhenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:51.225449+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C5orf42 was added\ngene: C5orf42 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: C5orf42 was set to ",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:50.943114+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C2orf71 was added\ngene: C2orf71 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: C2orf71 was set to ",
"entity_name": "C2orf71",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:50.797289+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BANF1 was added\ngene: BANF1 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: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BANF1 were set to Nestor-Guillermo progeria syndrome\t614008",
"entity_name": "BANF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:50.638815+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B9D2 was added\ngene: B9D2 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: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B9D2 were set to Meckel syndrome 10 614175",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:50.455242+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATXN10 was added\ngene: ATXN10 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: ATXN10 was set to \nMode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:50.294806+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARL13B was added\ngene: ARL13B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: ARL13B was set to ",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:50.152641+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: ARID1B was set to \nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900; Coffin-Siris",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.991489+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: ARID1A was set to \nPhenotypes for gene: ARID1A were set to Coffin-Siris",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.874471+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT1 was added\ngene: AKT1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: AKT1 was set to Unknown\nPhenotypes for gene: AKT1 were set to Cowden syndrome 6 615109; Proteus syndrome, somatic 176920",
"entity_name": "AKT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.695098+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIPL1 was added\ngene: AIPL1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: AIPL1 was set to ",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.554197+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHI1 was added\ngene: AHI1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: AHI1 was set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.417675+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AFF3 was added\ngene: AFF3 was added to Skeletal dysplasia. Sources: Expert Review Red\nMode of inheritance for gene: AFF3 was set to Unknown\nPhenotypes for gene: AFF3 were set to No OMIM or G2P phenotype",
"entity_name": "AFF3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.223404+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADI1 was added\ngene: ADI1 was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: ADI1 was set to Unknown\nPhenotypes for gene: ADI1 were set to No OMIM or G2P phenotype",
"entity_name": "ADI1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:49.067195+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRV1 was added\ngene: ADGRV1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: ADGRV1 was set to ",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:48.929493+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVR2B was added\ngene: ACVR2B was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red\nMode of inheritance for gene: ACVR2B was set to Unknown\nPhenotypes for gene: ACVR2B were set to Heterotaxy, visceral, 4, autosomal\t613751",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:48.777563+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Amber\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD21 were set to 22633399; 27620904; 30716475; 27882533; 24378232\nPhenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4 614701",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:48.613012+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAM16 was added\ngene: PAM16 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list\nMode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAM16 were set to 27354339; 24786642\nPhenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:48.480723+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP9 was added\ngene: MMP9 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: MMP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP9 were set to 28342220; 19615667\nPhenotypes for gene: MMP9 were set to Metaphyseal anadysplasia 2 613073",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:48.275588+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MIR17HG was added\ngene: MIR17HG was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MIR17HG were set to 26360630; 21892160; 25391829; 19344873\nPhenotypes for gene: MIR17HG were set to FS2; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Brachydactyly with short stature and microcephaly; Feingold syndrome 2, 614326",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:48.115715+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANBA was added\ngene: MANBA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MANBA were set to 18980795; 16401745; 2079835\nPhenotypes for gene: MANBA were set to Beta-mannosidosis, 248510",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:47.864682+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPK was added\ngene: HNRNPK was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Other\nMode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPK were set to 26173930; 26954065; 26638989\nPhenotypes for gene: HNRNPK were set to OMIM:616580; Orphanet:453499; Au-Kline syndrome:616580; Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:47.706756+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HDAC4 was added\ngene: HDAC4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber\nMode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HDAC4 were set to 15521982; 25402011; 19365831; 20691407\nPhenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Del(2)(q37) 600430",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:47.547964+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GZF1 was added\ngene: GZF1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature\nMode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GZF1 were set to 28475863\nPhenotypes for gene: GZF1 were set to Larsen syndrome",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:47.377880+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPX4 was added\ngene: GPX4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPX4 were set to 24706940\nPhenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type 250220",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:47.226021+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBLN1 was added\ngene: FBLN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber\nMode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FBLN1 were set to 24084572\nPhenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180",
"entity_name": "FBLN1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:47.056172+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCC was added\ngene: DCC was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature\nMode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCC were set to 28250456\nPhenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2\t617542",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:46.890666+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B9D1 was added\ngene: B9D1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B9D1 were set to 21493627; 24886560\nPhenotypes for gene: B9D1 were set to Meckel syndrome 9 614209",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:46.703608+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABL1 was added\ngene: ABL1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber,Literature\nMode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ABL1 were set to 28288113\nPhenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602\nMode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:46.551629+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Skeletal dysplasia. Sources: Other,Expert Review Green\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZSWIM6 were set to 25105228\nPhenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:46.394856+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal 275210; Mandibuloacral dysplasia with type B lipodystrophy 608612",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:46.252829+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YY1 was added\ngene: YY1 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YY1 were set to 28575647\nPhenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557; Gabriele-de Vries syndrome\t617557",
"entity_name": "YY1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:46.086980+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26987875\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome 605822",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:45.947696+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XYLT1 was added\ngene: XYLT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2\t615777; Desbuquois dysplasia 2 615777",
"entity_name": "XYLT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:45.801954+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XRCC4 was added\ngene: XRCC4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction 616541",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:45.664261+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT7A was added\ngene: WNT7A 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: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930",
"entity_name": "WNT7A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:45.489067+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT5A was added\ngene: WNT5A 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: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1 180700",
"entity_name": "WNT5A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:45.299479+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT10B was added\ngene: WNT10B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green\nMode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT10B were set to 24211389\nPhenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300",
"entity_name": "WNT10B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:44.990104+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT1 was added\ngene: WNT1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green\nMode of inheritance for gene: WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: WNT1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:44.847901+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WISP3 was added\ngene: WISP3 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:44.575249+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR60 was added\ngene: WDR60 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:44.427367+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR35 was added\ngene: WDR35 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: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:44.258728+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR34 was added\ngene: WDR34 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:44.105237+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR19 was added\ngene: WDR19 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: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR19 were set to 24504730; 22019273\nPhenotypes for gene: WDR19 were set to Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Asphyxiating thoracic dystrophy 5, 614376; Cranioectodermal dysplasia 4, 614378; SRTD5",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:43.945942+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDPCP was added\ngene: WDPCP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDPCP were set to 28289185; 27158779; 25427950\nPhenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:43.797515+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Skeletal dysplasia. Sources: Expert,Expert Review Green\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, 277440",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:43.656891+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYROBP was added\ngene: TYROBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYROBP were set to Nasu-Hakola disease 221770",
"entity_name": "TYROBP",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:43.505387+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWIST1 was added\ngene: TWIST1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TWIST1 were set to Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400; Saethre-Chotzen syndrome 101400; Robinow-Sorauf syndrome 180750",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:43.352968+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Polydactyly; Bardet-Biedl syndrome 8, 615985",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:43.181126+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC21B was added\ngene: TTC21B 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: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC21B were set to SRTD4; Asphyxiating Thoracic Dystrophy; Nephronophthisis 12, 613820",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:42.902784+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPV6 was added\ngene: TRPV6 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPV6 were set to 29861107\nPhenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:42.760993+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPV4 was added\ngene: TRPV4 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPV4 were set to Digital arthropathy-brachydactyly, familial 606835; Parastremmatic dwarfism 168400; Scapuloperoneal spinal muscular atrophy 181405; SED, Maroteaux type 184095; Brachyolmia type 3 113500; Hereditary motor and sensory neuropathy, type IIc 606071; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Metatropic dysplasia 156530; Spondylometaphyseal dysplasia, Kozlowski type 184252",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:42.624018+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPS1 was added\ngene: TRPS1 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: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I 190350; Trichorhinophalangeal syndrome, type III 190351",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:42.454616+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP11 was added\ngene: TRIP11 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP11 were set to Achondrogenesis, type IA 200600; Achondrogenesis, type IA\t200600",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:42.291470+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREM2 was added\ngene: TREM2 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: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TREM2 were set to Nasu-Hakola disease 221770",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:42.115189+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC2 was added\ngene: TRAPPC2 was added to Skeletal dysplasia. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert Review Green\nMode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda\t313400",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:41.897906+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 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: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Limb-mammary syndrome 603543; Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; ULT syndrome 103285; Split-hand/foot malformation 4 605289",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:41.721994+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF11 was added\ngene: TNFSF11 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: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:41.548917+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset\t239000",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:41.401558+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green\nMode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; Paget disease of bone 2, early-onset 602080; Osteopetrosis, autosomal recessive 7 612301",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:41.264119+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM38B was added\ngene: TMEM38B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green\nMode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV 615066; osteogenesis imperfecta; Osteogenesis imperfecta, type XIV, 615066",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:41.106113+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 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: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were set to Meckel syndrome 11 615397; Joubert syndrome 20 614970",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:40.949766+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 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: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Meckel syndrome 2 603194; Joubert syndrome 2 608091",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:40.771814+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM165 was added\ngene: TMEM165 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: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:40.593432+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMCO1 was added\ngene: TMCO1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMCO1 were set to 24424126\nPhenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome\t213980; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:40.338920+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 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: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:40.175642+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB2 was added\ngene: TGFB2 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: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:39.926952+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB1 was added\ngene: TGFB1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB1 were set to Camurati-Engelmann disease\t131300; Camurati-Engelmann disease 131300",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:39.779440+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:39.626170+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 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: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTN3 were set to 22883145\nPhenotypes for gene: TCTN3 were set to Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:39.470130+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN2 was added\ngene: TCTN2 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: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:39.270381+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTEX1D2 was added\ngene: TCTEX1D2 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green\nMode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTEX1D2 were set to 25830415; 26044572\nPhenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly, 617405",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:39.133556+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCOF1 was added\ngene: TCOF1 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: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 154500",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:38.907391+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 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: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1 259700",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:38.742319+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 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: TBXAS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome 231095",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:38.575687+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX6 was added\ngene: TBX6 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5\t122600; Spondylocostal dysostosis 5 122600",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:38.458691+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX5 was added\ngene: TBX5 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: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome 142900",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:38.208963+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX4 was added\ngene: TBX4 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: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome 147891; Ischiocoxopodopatellar syndrome\t147891",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:38.060297+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX3 was added\ngene: TBX3 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: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX3 were set to 30654152; 28145909; 28961683\nPhenotypes for gene: TBX3 were set to Ulnar-mammary syndrome 181450",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:37.889653+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX15 was added\ngene: TBX15 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: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBX15 were set to 24039145\nPhenotypes for gene: TBX15 were set to Cousin syndrome 260660",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:37.740875+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460.; Kenny-Caffey syndrome, type 1 244460",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:37.486283+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAPT1 was added\ngene: TAPT1 was added to Skeletal dysplasia. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAPT1 were set to 26365339\nPhenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type\t616897",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:37.367936+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TALDO1 was added\ngene: TALDO1 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: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TALDO1 were set to 25388407; 26238251\nPhenotypes for gene: TALDO1 were set to Transaldolase deficiency 606003",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:37.186644+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 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: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency 272200",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:37.020276+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPARC was added\ngene: SPARC was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPARC were set to 26027498\nPhenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII 616507",
"entity_name": "SPARC",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:36.888289+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP7 was added\ngene: SP7 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: SP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SP7 were set to 29382611; 2057926\nPhenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII 613849",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:36.735622+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX9 was added\ngene: SOX9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290; Campomelic dysplasia 114290; Acampomelic campomelic dysplasia 114290",
"entity_name": "SOX9",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:36.594315+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOST was added\ngene: SOST was added to Skeletal dysplasia. Sources: NHS GMS,Expert,Expert Review Green\nMode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500",
"entity_name": "SOST",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:36.463424+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNX10 was added\ngene: SNX10 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green\nMode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX10 were set to 23280965\nPhenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 615085",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:06:36.304668+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNRPB was added\ngene: SNRPB was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green\nMode of inheritance for gene: SNRPB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SNRPB were set to Cerebrocostomandibular syndrome 117650",
"entity_name": "SNRPB",
"entity_type": "gene"
}
]
}