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{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1277",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1275",
"results": [
{
"created": "2021-07-06T16:09:47.992251+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.19",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343148, 25283271, 28589114; Phenotypes: moyamoya, cerebral arteriopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:59:25.774547+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTEX1D2 as ready",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:59:25.761558+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctex1d2 has been classified as Green List (High Evidence).",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:59:23.344595+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:59:00.680791+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTEX1D2 were set to ",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:58:30.900176+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:57:54.428845+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTEX1D2 as ready",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:57:54.418070+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctex1d2 has been classified as Green List (High Evidence).",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:57:48.562631+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:57:25.592871+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTEX1D2 were set to ",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:56:47.278832+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:56:12.018004+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:55:39.093403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTEX1D2 as ready",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:55:39.084648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctex1d2 has been classified as Green List (High Evidence).",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:55:27.843639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:55:09.773512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTEX1D2 were set to ",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:54:50.484596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:54:32.608679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:53:51.549698+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTEX1D2 as ready",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:53:51.538094+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctex1d2 has been classified as Green List (High Evidence).",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:52:17.105708+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTEX1D2 were changed from to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:50:50.458481+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTEX1D2 were set to ",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:50:30.231353+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T14:50:00.469489+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:54:47.661326+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: LOR.",
"entity_name": "LOR",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:49:39.352233+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-06T09:31:39.509909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN3 as ready",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:31:39.498847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Green List (High Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:31:27.650459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:31:07.661911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN3 were set to ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:30:49.055292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:30:32.044373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rare cause of JBS, I can only find two families reported plus one with OFD. Ataxia specifically described in one of the JBS individuals.; to: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:30:09.565937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:29:28.131087+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCTN3 as ready",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:29:28.121270+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tctn3 has been classified as Green List (High Evidence).",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:29:25.622833+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCTN3 were changed from to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:28:57.658373+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCTN3 were set to ",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:28:31.122601+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:28:06.264622+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:25:12.545460+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:25:12.531589+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:25:09.733021+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:25:01.024977+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:24:47.514205+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:23:52.668820+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:23:52.658777+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:23:47.907508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:23:21.583308+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:20:51.967654+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:20:18.097850+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:19:18.618737+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:19:18.607942+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:19:15.931268+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:18:51.111678+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:18:26.967144+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:17:56.049130+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:17:16.170462+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:17:16.159866+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Red List (Low Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:17:13.750931+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:16:47.146253+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:16:17.758628+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SDCCAG8 as Red List (low evidence)",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:16:17.748427+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Red List (Low Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:15:52.346526+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDCCAG8: Changed rating: RED",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:15:29.910285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:15:29.895367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:15:19.594659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:14:36.204244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:14:18.927966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:14:00.866505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:13:00.570940+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, MIM# 615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:12:33.645010+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:12:01.424853+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:12:01.414377+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:11:58.514400+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:11:21.214974+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDCCAG8 were set to ",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:10:47.002556+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:10:00.370701+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Polydactyly is typically ABSENT.; to: Well established gene-disease association with BBS. Polydactyly is typically ABSENT. Also reported with LCA and apparently isolated nephronophtisis.",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:09:37.285558+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:08:48.335825+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065; Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:07:05.281280+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:05:25.588796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:05:25.579491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:05:12.869965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:04:55.363505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:04:37.221805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:02:37.890310+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:02:37.881231+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Amber List (Moderate Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:02:35.616168+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:02:13.007102+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SBDS were set to ",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:01:50.529911+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:01:21.118723+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SBDS as Amber List (moderate evidence)",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:01:21.109732+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Amber List (Moderate Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T09:00:51.723032+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 22554078; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:56:39.742216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:56:23.278811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1L as ready",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:56:23.268489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1l has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:56:14.993276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:54:48.747044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1L were set to ",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:54:27.893124+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-07-06T08:54:01.308710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RPGRIP1L: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Mouse model.; Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
}
]
}