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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1894",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1892",
"results": [
{
"created": "2020-03-24T20:51:24.049144+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNB were set to ",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2020-03-24T17:53:47.581887+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.10",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22190451, 29566257; Phenotypes: Atelosteogenesis, type I AD MIM#108720, Atelosteogenesis, type III AD MIM#108721, Boomerang dysplasia AD MIM#112310, Larsen syndrome AD MIM#150250, Spondylocarpotarsal synostosis syndrome AR MIM#272460; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLNB",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:58:04.322200+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:58:04.305667+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:57:55.594319+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POC5 as Amber List (moderate evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:57:55.586079+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:57:44.323689+11:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POC5 was added\ngene: POC5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 29272404\nPhenotypes for gene: POC5 were set to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis\nReview for gene: POC5 was set to AMBER\nAdded comment: One case with a homozygous truncating variant and a supporting zebrafish model. \nSources: Expert list",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:56:07.786906+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POC5 as ready",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:56:07.773854+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:56:01.421477+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POC5 as Amber List (moderate evidence)",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:56:01.408117+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: poc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T16:55:46.142348+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29272404; Phenotypes: retinitis pigmentosa, short stature, microcephaly, recurrent glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC5",
"entity_type": "gene"
},
{
"created": "2020-03-24T12:40:53.553242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1827",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 7506602, 10338090; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, 236200, Thrombosis, hyperhomocysteinemic, 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-03-23T19:20:36.575122+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.24",
"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": "2020-03-23T17:43:26.883692+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:43:26.870186+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:43:22.663315+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:42:54.646587+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:42:28.441522+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP3 as Red List (low evidence)",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:42:28.428555+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:41:29.235251+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY2C as ready",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:41:29.221748+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2c has been classified as Red List (Low Evidence).",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:41:24.167423+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY2C were changed from to Diarrhea 6, 614616; Meconium ileus, 614665",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:41:01.279430+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GUCY2C as Red List (low evidence)",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T17:41:01.265821+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2c has been classified as Red List (Low Evidence).",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:41:18.683004+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Hereditary Neuropathy - complex_RMH to Hereditary Neuropathy - complex\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-23T15:38:52.365494+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:35:30.625151+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: None; Publications: 21419568; Phenotypes: Spastic paraplegia 6, autosomal dominant MIM#600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPA1",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:32:35.755588+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493, 19409521; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:31:36.121305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTR3C as ready",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:31:36.114953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association currently.",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:31:36.069505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr3c has been classified as Red List (Low Evidence).",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:30:37.348284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTR3C were set to ",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:30:22.086778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HTR3C as Red List (low evidence)",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:30:22.078255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htr3c has been classified as Red List (Low Evidence).",
"entity_name": "HTR3C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:29:43.938646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFP42 as ready",
"entity_name": "ZFP42",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:29:43.930097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp42 has been classified as Red List (Low Evidence).",
"entity_name": "ZFP42",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:29:04.741400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFP42 as Red List (low evidence)",
"entity_name": "ZFP42",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:29:04.727538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp42 has been classified as Red List (Low Evidence).",
"entity_name": "ZFP42",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:51.429683+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBA as ready",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:51.416564+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyba has been classified as Red List (Low Evidence).",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:48.883113+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBA were changed from to Chronic granulomatous disease",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:31.876419+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.54",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "commented on gene: GUCY2C: Cataract does not appear to be a typical feature in these conditions (OMIM)",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:27.312328+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:19.774248+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.53",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "edited their review of gene: GUCY2C: Changed rating: RED",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:04.791043+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYBA as Red List (low evidence)",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:27:04.777711+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyba has been classified as Red List (Low Evidence).",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:26:47.362667+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.52",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: GUCY2C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhea 6, 614616, Meconium ileus, 614665; Mode of inheritance: None",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:26:21.426860+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBB as ready",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:26:21.418002+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybb has been classified as Red List (Low Evidence).",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:26:18.311856+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease; immunodeficiency 34 with mycobacteriosis",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:25:55.638761+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYBB 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": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:25:50.173299+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GJB3 as ready",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:25:50.159304+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gjb3 has been classified as Red List (Low Evidence).",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:25:34.931083+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 11309368, 19755382, 16077902, 17142249, 12165562; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:25:32.105867+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYBB as Red List (low evidence)",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:25:32.092477+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybb has been classified as Red List (Low Evidence).",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:24:54.262318+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1C as ready",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:24:54.249233+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1c has been classified as Red List (Low Evidence).",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:24:51.132018+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1C were changed from to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:16:54.921507+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:16:32.828811+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCLRE1C as Red List (low evidence)",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:16:32.815623+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1c has been classified as Red List (Low Evidence).",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:15:52.075927+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK8 as ready",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:15:52.064449+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock8 has been classified as Red List (Low Evidence).",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:15:49.070345+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome 243700",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:15:26.507186+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOCK8 were set to ",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:15:03.948530+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:14:37.052079+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DOCK8.",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:14:31.787760+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOCK8 as Red List (low evidence)",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:14:31.774757+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock8 has been classified as Red List (Low Evidence).",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:13:48.360358+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EED as ready",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:13:48.356354+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single individual reported, unclear at present whether this a feature of the phenotype or a coincidence.",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:13:48.323868+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eed has been classified as Red List (Low Evidence).",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:13:27.401228+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EED as Red List (low evidence)",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:13:27.388583+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eed has been classified as Red List (Low Evidence).",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:12:33.807616+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPCAM as ready",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:12:33.798875+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epcam has been classified as Red List (Low Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:12:31.139337+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPCAM were changed from to Congenital diarrhoea 5 with tufting enteropathy; Lynch syndrome",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:12:30.722768+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.40",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:12:08.521778+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPCAM were set to ",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:11:20.152727+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPCAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:10:58.667878+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPCAM as Red List (low evidence)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:10:58.659097+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epcam has been classified as Red List (Low Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:10:17.952521+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:10:17.943421+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:10:14.196896+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:09:46.835634+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:09:24.762091+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:08:53.136635+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKRP as Amber List (moderate evidence)",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T15:08:53.123674+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:57:26.622288+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:57:26.613650+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Red List (Low Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:56:58.320377+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 27066553; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:55:39.119955+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Red List (low evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:55:39.106519+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Red List (Low Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:55:08.076988+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:52:54.021000+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:RBM7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-23T14:40:12.825090+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families/cases reported with axonal motor neuropathy; to: Three unrelated families/cases reported with a complex phenotype including axonal motor neuropathy",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-03-23T14:39:25.866603+11:00",
"panel_name": "Hereditary Neuropathy - complex_RMH",
"panel_id": 3070,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PEX10 as ready",
"entity_name": "PEX10",
"entity_type": "gene"
}
]
}