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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2010",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2008",
"results": [
{
"created": "2020-01-03T16:09:13.502315+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fn1 has been classified as Green List (High Evidence).",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:08:48.869020+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.18",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:08:28.470328+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.18",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:08:27.541174+11:00",
"panel_name": "Proteinuria_VCGS_KidGen",
"panel_id": 144,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FN1 was added\ngene: FN1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list\nMode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FN1 were set to 18268355\nPhenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM#\t601894\nReview for gene: FN1 was set to GREEN\nAdded comment: Six unrelated families reported; mostly a nephrotic picture with some haematuria. \nSources: Expert list",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:07:57.583602+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.18",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: FN1 as Red List (low evidence)",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:07:57.571835+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.18",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: fn1 has been classified as Red List (Low Evidence).",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:07:22.773639+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.17",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: FN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:02:19.941736+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.17",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: CFHR5 as Red List (low evidence)",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:02:19.928227+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.17",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Red List (Low Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:01:55.760910+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.17",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: CFHR5 as Red List (low evidence)",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:01:55.575750+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.17",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Red List (Low Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:01:32.977266+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN5 as ready",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:01:32.965007+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:00:58.452043+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.16",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: CLCN5 as Red List (low evidence)",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:00:58.436585+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.16",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:00:31.375485+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.15",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: CLCN5 as Red List (low evidence)",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:00:31.348906+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.15",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:00:04.496315+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.15",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: CLCN5 as Red List (low evidence)",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T16:00:04.294635+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.15",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: clcn5 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:59:29.417208+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.14",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:58:11.254983+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.14",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: CFHR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:57:55.148339+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.14",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: CFH as Red List (low evidence)",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:57:55.135805+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.14",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: cfh has been classified as Red List (Low Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:57:18.161574+11:00",
"panel_name": "Haematuria_VCGS_KidGen",
"panel_id": 39,
"panel_version": "0.13",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:45.320863+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF423 as ready",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:45.309311+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:41.365158+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:28.816037+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF423 were set to ",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:22.404685+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.62",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Red List (low evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:22.392256+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.62",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Red List (Low Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:18.948913+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF423 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:14.039205+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.60",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:10.453380+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Red List (low evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:52:10.442259+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:51:59.954990+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:48:31.483486+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM32 as ready",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:48:31.472305+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:48:28.765513+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:48:15.695726+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM32 were set to ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:48:04.315457+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:47:55.399386+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM32 as Red List (low evidence)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:47:55.387720+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:47:45.495873+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:47:37.991535+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.55",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: WDR34 as Red List (low evidence)",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:47:37.979561+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.55",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: wdr34 has been classified as Red List (Low Evidence).",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:47:25.599318+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.54",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:45:31.797630+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.54",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SLC41A1 as Red List (low evidence)",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:45:31.784048+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.54",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: slc41a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:45:19.888580+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.53",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23661805; Phenotypes: no OMIM number; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:42:58.442125+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.53",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: SCLT1 as Red List (low evidence)",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:42:58.429663+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.53",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: sclt1 has been classified as Red List (Low Evidence).",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:42:48.788369+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.52",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: SCLT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:36:15.618750+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.52",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: POC1B as Red List (low evidence)",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:36:15.606118+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.52",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: poc1b has been classified as Red List (Low Evidence).",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:36:01.579743+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.51",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: POC1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:34:31.392307+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.51",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: PDE6D as Red List (low evidence)",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:34:31.380705+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.51",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: pde6d has been classified as Red List (Low Evidence).",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:34:22.028665+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.50",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24166846; Phenotypes: ?Joubert syndrome 22, OMIM #615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6D",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:30:35.274531+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.34",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: KIF14 as Green List (high evidence)",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:30:35.262151+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.34",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Green List (High Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:29:51.186558+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS",
"panel_id": 63,
"panel_version": "0.33",
"user_name": "chirag patel",
"item_type": "entity",
"text": "gene: KIF14 was added\ngene: KIF14 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF14 were set to PMID: 30388224. 24128419\nPhenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, OMIM #617914; ?Meckel syndrome 12, OMIM #616258\nReview for gene: KIF14 was set to GREEN\nAdded comment: 1 family with 2 sib fetuses with features consistent with Meckel syndrome, with KIF14 mutations which segregated with the disorder in the family\r\n\r\n\r\nMutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. The functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. In vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, the results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development. \nSources: Literature",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:20:31.794108+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.50",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: KIF14 as Red List (low evidence)",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:20:31.765620+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.50",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: kif14 has been classified as Red List (Low Evidence).",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:20:22.703794+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.49",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: KIF14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:15:41.266849+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.49",
"user_name": "chirag patel",
"item_type": "entity",
"text": "changed review comment from: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly.; to: 1 patient with homozygous mutation in IFT81 affecting an obligatory donor splice site with nephronophthisis and polydactyly. So not a true renal ciliopathy.",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:15:26.337237+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.49",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: IFT81 as Red List (low evidence)",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:15:26.324179+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.49",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: ift81 has been classified as Red List (Low Evidence).",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:15:16.115230+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.48",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: IFT81: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26275418; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM #617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT81",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:14:24.605033+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:14:24.594025+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:14:18.375565+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from to Bardet-Biedl syndrome 20 617119",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:14:14.039122+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to ",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:13:51.623761+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT74 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:13:40.384862+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Amber List (moderate evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:13:40.373908+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:13:29.614444+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486776; Phenotypes: Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:12:31.583719+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.44",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: IFT57 as Red List (low evidence)",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:12:31.571938+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.44",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: ift57 has been classified as Red List (Low Evidence).",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:11:43.641329+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.43",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: IFT57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IFT57",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:01:21.581964+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.43",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: GLIS2 as Amber List (moderate evidence)",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:01:21.568888+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.43",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: glis2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:01:20.457089+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.43",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: GLIS2 as Amber List (moderate evidence)",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:01:20.445703+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.43",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: glis2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2020-01-03T15:01:09.717037+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.42",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17618285, 23559409; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:57:28.387785+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.42",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: FOXC1 as Red List (low evidence)",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:57:28.376157+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.42",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:57:20.531302+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:38.036560+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCDC2 as ready",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:38.025656+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:08.265826+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:08.253902+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Red List (Low Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:03.501212+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Classified gene: EVC as Red List (low evidence)",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:03.488019+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "chirag patel",
"item_type": "entity",
"text": "Gene: evc has been classified as Red List (Low Evidence).",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:55:02.111768+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC2 were changed from to Ellis van Creveld syndrome",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:54:53.799152+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.40",
"user_name": "chirag patel",
"item_type": "entity",
"text": "reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:54:52.506553+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:54:43.613822+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EVC2 as Red List (low evidence)",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:54:43.602742+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Red List (Low Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:54:33.320807+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis van Creveld syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2020-01-03T14:53:13.360507+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217",
"entity_name": "DCDC2",
"entity_type": "gene"
}
]
}