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{
"count": 220482,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1280",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1278",
"results": [
{
"created": "2021-07-04T14:22:48.816582+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:22:12.479999+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT52 as ready",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:22:12.471187+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift52 has been classified as Green List (High Evidence).",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:22:09.440052+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:21:40.228908+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT52 were set to ",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:21:04.193271+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:20:28.446711+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:19:44.862994+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT52 as ready",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:19:44.835717+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift52 has been classified as Green List (High Evidence).",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:19:42.437270+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT52 were changed from to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:19:13.947063+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT52 were set to ",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:18:46.979759+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:18:22.236967+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT52",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:15:29.712138+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT43 as ready",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:15:29.702774+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Green List (High Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:15:26.866915+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:15:03.959296+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT43 were set to ",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:14:39.806142+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:14:05.225728+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 21378380, 29896747; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:13:39.369409+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT43: Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099, Retinitis pigmentosa 81, MIM# 617871",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:13:14.179864+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:13:09.082128+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:12:22.398496+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT43: Added comment: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; Changed publications: 28400947, 21378380, 29896747; Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:10:52.339869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT43 were set to 28400947; 28973684; 21378380",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:10:33.219562+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:10:20.145872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:09:59.826735+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:09:49.015769+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:09:06.864576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT43 as ready",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:09:06.854506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Green List (High Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:08:59.236427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:08:41.731498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT43 were set to ",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:08:24.024306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:07:55.542115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:06:54.139822+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT43 as ready",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:06:54.128204+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift43 has been classified as Green List (High Evidence).",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:06:45.066064+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT43 were changed from to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:06:17.446072+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT43 were set to ",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:05:53.818992+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-04T14:05:24.279943+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:44:30.131715+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:44:30.119417+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:44:25.965008+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Retinitis pigmentosa 80 to Retinitis pigmentosa 80, MIM# 617781",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:43:32.101879+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:43:12.301700+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": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216056, 26968735; Phenotypes: Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:42:11.080117+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:42:11.067278+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:42:07.981119+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:41:32.621324+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:40:53.587532+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:39:39.675493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:39:39.666053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:38:19.671707+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:38:03.343584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:37:43.406024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:37:25.567462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:36:42.196298+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:36:42.183748+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:36:37.625706+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:36:06.425293+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:35:38.827254+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:35:13.560671+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT140 as ready",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:35:13.550840+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift140 has been classified as Green List (High Evidence).",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:35:11.116684+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:34:46.697081+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to ",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:34:22.774847+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:33:44.953181+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T18:32:57.157638+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:33:29.715052+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM3B as ready",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:33:29.703063+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:33:26.494720+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM3B as Green List (high evidence)",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:33:26.485409+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:32:57.753154+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM3B was added\ngene: KDM3B was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM3B were set to 30929739\nPhenotypes for gene: KDM3B were set to Intellectual disability; short stature; deafness\nReview for gene: KDM3B was set to GREEN\nAdded comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B (inherited variants segregated with phenotype). 4 individuals had deafness. \nSources: Expert Review",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:21:44.857687+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNRPE as Green List (high evidence)",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:21:44.845279+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snrpe has been classified as Green List (High Evidence).",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:21:34.715194+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:20:08.668683+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": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:20:08.659253+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": "Gene: arhgef9 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:17:46.191512+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": "Phenotypes for gene: ARHGEF9 were changed from to Developmental and epileptic encephalopathy 8, MIM# 300607",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:17:13.620124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGEF9 were set to ",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:16:43.537861+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:15:58.405173+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": "reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718, 33600053, 32939676; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; 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": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:13:39.668383+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:12:53.676223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:08:25.060254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:08:05.255802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:07:49.003843+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM#\t619396",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:07:08.674523+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:05:32.933196+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:05:32.917135+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:05:29.849293+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:05:06.655793+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:04:37.534069+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:04:11.801716+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": "reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140113; Phenotypes: Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:02:26.802951+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT172 as ready",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:02:26.790916+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift172 has been classified as Green List (High Evidence).",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:02:23.562683+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:01:53.012529+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT172 were set to ",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:01:22.951379+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2021-07-03T17:00:05.255659+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO.\r\nMore than 10 families reported with skeletal ciliopathy and 3 with RP. Supportive zebrafish models.",
"entity_name": "IFT172",
"entity_type": "gene"
}
]
}