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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1786",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1784",
"results": [
{
"created": "2020-05-27T15:31:02.019098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2909",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 30555098, 29761529; Phenotypes: congenital nystagmus 6, MIM 300814, ty[e I ocular albinism, Nettleship-Falls type, MIM 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:30:03.927210+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ELP1 as Green List (high evidence)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:30:03.913765+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Green List (High Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:13:22.332953+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELP1 was added\ngene: ELP1 was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELP1 were set to 32296180\nPhenotypes for gene: ELP1 were set to Paediatric medulloblastoma sonic hedgehog subtype\nReview for gene: ELP1 was set to GREEN\nAdded comment: Medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Segregation was reported in one family and expected in another. \nSources: Literature",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:09:17.088970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2909",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11179008, 32296180; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:00:26.791793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNRNP200 as ready",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:00:26.780075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snrnp200 has been classified as Green List (High Evidence).",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T15:00:18.769410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNRNP200 were changed from to Retinitis pigmentosa 33 (MIM# 610359)",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:59:57.933444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNRNP200 were set to ",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:58:51.700370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNRNP200 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:58:04.889449+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1L1 as ready",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:58:04.878194+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:58:00.277432+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to ",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:57:36.401131+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:56:33.098314+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:55:42.980789+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKD1L1 as Amber List (moderate evidence)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:55:42.971856+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:00:45.840057+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGR as ready",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:00:45.830841+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgr has been classified as Red List (Low Evidence).",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:00:42.506665+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T14:00:11.353550+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGR were set to ",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:59:40.578824+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:59:16.956231+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPGR as Red List (low evidence)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:59:16.943086+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgr has been classified as Red List (Low Evidence).",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:58:30.575074+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH1 as ready",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:58:30.552706+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph1 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:58:27.597061+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:57:57.760179+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH1 were set to ",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:57:24.825348+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:56:56.972920+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPH1 as Red List (low evidence)",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:56:56.963520+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph1 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:55:59.812373+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH1 as ready",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:55:59.803478+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph1 has been classified as Green List (High Evidence).",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:55:17.851314+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:51:24.753223+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH1 were set to ",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:50:58.799410+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:50:09.943987+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH3 as ready",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:50:09.931488+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph3 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:48:10.678775+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH3 were changed from to Ciliary dyskinesia, primary, 32 (MIM#616481)",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:47:37.273516+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH3 were set to ",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:47:05.838716+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:46:38.153039+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPH3 as Red List (low evidence)",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:46:38.144061+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph3 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:43:49.947119+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH4A as ready",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:43:49.923528+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph4a has been classified as Red List (Low Evidence).",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:43:47.549227+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11 (MIM#612649)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:43:17.711747+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH4A were set to ",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:42:55.781999+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:41:48.628376+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPH4A as Red List (low evidence)",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:41:48.619728+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph4a has been classified as Red List (Low Evidence).",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:39:58.284842+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH9 as ready",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:39:58.275779+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:39:51.466074+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:39:28.424035+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH9 were set to ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:35:57.582479+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:35:31.324226+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPH9 as Red List (low evidence)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:35:31.314472+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Red List (Low Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:32:07.663549+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX2 as ready",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:32:07.651127+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx2 has been classified as Green List (High Evidence).",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:31:50.611676+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP9 as ready",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:31:50.597563+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp9 has been classified as Green List (High Evidence).",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:27:51.060373+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP54 as ready",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:27:51.047389+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Green List (High Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:27:25.316105+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC21 as ready",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:27:25.307232+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc21 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:26:58.627514+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFL1 as ready",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-05-27T13:26:58.618396+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-05-27T12:58:26.336307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2906",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA) \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.4Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo; to: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA) \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.1Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T12:58:04.476835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2906",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA) \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.1Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo; to: PMID: 31260034; more than 20 families reported with either de novo or AD with RP or retinal dystrophy (RD)\r\n\r\nPMID: 29320387; p.(Arg1090Gln) in a proband with RP from a consag family with unaffected het parents and sibling \r\n\r\nPMID: 23847139; p.(Pro1045Thr) homozygous in a patient with Leber congenital amaurosis (LCA) \r\n\r\nPMID: 31260034: p.(Arg545His) homozygous in a patient with RP with asymptomatic het parents and sister \r\n\r\nPMID: 27735924: in a patient with RP who is cHet for p.(Pro105Thr) in SNRNP200 and a 1.4Mb deletion spanning SNRNP200. Father is a carrier of the missense and is unaffected and the deletion was de novo",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T12:51:09.673712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2906",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31260034, 29320387, 23847139, 27735924; Phenotypes: Retinitis pigmentosa 33 (MIM# 610359); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SNRNP200",
"entity_type": "gene"
},
{
"created": "2020-05-27T12:25:56.824113+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-05-27T10:56:12.519724+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: 26093275, 31775781; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-27T10:35:51.879533+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH1: Rating: RED; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T10:31:24.227072+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.100",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 24 (MIM#615481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH1",
"entity_type": "gene"
},
{
"created": "2020-05-27T10:12:14.325860+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH3: Rating: RED; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:57:41.057791+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: 25789548; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:51:41.685240+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3B were changed from Brugada syndrome 7 MIM#613120 to Brugada syndrome 7 MIM#613120",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:51:38.315361+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN3B as ready",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:51:38.300312+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3b has been classified as Red List (Low Evidence).",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:51:20.828775+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN3B were changed from to Brugada syndrome 7 MIM#613120",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:50:56.648983+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:50:29.814862+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN3B as Red List (low evidence)",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:50:29.805387+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3b has been classified as Red List (Low Evidence).",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:50:02.253408+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SCN3B.",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-27T09:44:16.460544+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.51",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: 19200523; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:39.256684+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:34.259608+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9\nPublications for gene MMP9 were updated from 28342220; 19615667 to 28342220; 19615667",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:33.560392+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:32.850504+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:32.148685+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:31.361773+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:30.569894+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Shwachman-Diamond syndrome\t260400; Shwachman-Diamond syndrome 260400 for gene: SBDS",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:29.837828+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:29.132125+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Cartilage-hair hypoplasia 250250; Metaphyseal dysplasia without hypotrichosis 250460; Anauxetic dysplasia 607095 for gene: RMRP",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:28.255395+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:50:27.552390+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:48:24.757494+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia 119600 for gene: RUNX2",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:48:19.649989+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes 613073METAPHYSEAL ANADYSPLASIA 2 for gene: MMP9\nPublications for gene MMP9 were updated from 19615667; 28342220 to 28342220; 19615667",
"entity_name": "MMP9",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:48:18.848568+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2020-05-26T22:48:18.051617+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.24",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added phenotypes 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 for gene: SRP54",
"entity_name": "SRP54",
"entity_type": "gene"
}
]
}