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{
"count": 220480,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1281",
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"results": [
{
"created": "2021-07-03T15:41:23.618125+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc has been classified as Green List (High Evidence).",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:41:16.755403+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:40:34.349757+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC were set to ",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:40:07.804211+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:28:16.921779+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2LI1 as ready",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:28:16.911658+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2li1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:28:13.780195+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:27:44.248341+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2LI1 were set to ",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:27:04.195759+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:25:40.180763+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2LI1 as ready",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:25:40.170357+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2li1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:25:37.077975+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2LI1 were changed from to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:25:04.169261+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2LI1 were set to ",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T15:24:40.968826+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2LI1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:17:54.536561+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:17:54.526185+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:17:49.172462+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:17:21.408243+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:16:49.539272+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:15:56.751577+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:15:56.741604+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:15:54.037551+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:15:31.333545+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:15:08.338646+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:14:43.299012+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:14:34.834087+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:14:34.820209+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:13:53.027000+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYNC2H1 as ready",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:13:53.014286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dync2h1 has been classified as Green List (High Evidence).",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:13:45.449853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:13:25.428557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:13:04.638815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:12:45.544413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:12:43.029126+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:12:06.344157+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYNC2H1 were set to ",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:11:35.407079+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:11:11.095026+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:10:34.237933+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:05:55.977713+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX59 as ready",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:05:55.968396+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:05:53.000188+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:05:20.409633+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX59 were set to ",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:04:56.237208+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:04:33.070585+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX59 as Amber List (moderate evidence)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:04:33.059972+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:04:08.216820+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T14:00:34.764119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:59:51.314568+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX59 as ready",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:59:51.275521+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Green List (High Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:59:46.763382+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:59:24.108173+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX59 were set to ",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:58:49.850705+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:57:54.326414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX59 as ready",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:57:54.316556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Green List (High Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:56:44.914012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:56:21.585379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX59 were set to ",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:55:53.394388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:55:37.116290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:55:10.883443+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX59 as ready",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:55:10.873197+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx59 has been classified as Green List (High Evidence).",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:55:00.496133+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V (MIM#174300)",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:54:34.531129+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX59 were set to ",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:54:17.870167+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:53:16.221278+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:53:16.211928+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:53:01.666810+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP83 as Green List (high evidence)",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:53:01.652227+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:52:51.376286+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP83 was added\ngene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 24882706; 33938610\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID\nReview for gene: CEP83 was set to GREEN\nAdded comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.\r\n\r\nPMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. \nSources: Expert Review",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:50:38.046966+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:50:38.036814+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:50:33.970008+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP83 as Green List (high evidence)",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:50:33.960000+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-03T13:50:21.267248+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP83 was added\ngene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 24882706; 33938610\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID\nReview for gene: CEP83 was set to GREEN\nAdded comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.\r\n\r\nPMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. \nSources: Expert Review",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:57:08.507121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:57:08.496495+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:57:03.893598+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:56:37.107421+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP83 were set to ",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:56:10.082004+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:55:40.638925+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:54:49.546757+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:54:49.536739+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:53:46.072044+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:53:16.670002+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP83 were set to ",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:52:45.509259+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:51:56.866019+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:51:12.571932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:51:12.561175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:51:02.151167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:50:33.954156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP83 were set to ",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:50:14.716610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T19:49:48.505030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:43:02.972855+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:43:02.956928+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:43:00.660801+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:42:37.054227+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP83 were set to ",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:42:10.397333+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:41:40.766380+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Hydrocephalus, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:00:56.790740+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP83 as ready",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T18:00:56.781023+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep83 has been classified as Green List (High Evidence).",
"entity_name": "CEP83",
"entity_type": "gene"
},
{
"created": "2021-07-02T17:59:46.068907+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP83 were changed from to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID",
"entity_name": "CEP83",
"entity_type": "gene"
}
]
}