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[
{
"created": "2021-03-10T18:15:30.859149Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809 to Nephropathy due to CFHR5 deficiency OMIM:614809",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-03-10T17:15:13.452588Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Note, Epstein syndrome #153650 and Fechtner syndrome #153640 have been merged by OMIM into Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-03-10T17:15:13.435404Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640 to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-03-10T17:08:10.164678Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A5 were changed from diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6; Alport syndrome, 301050; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome; (originally on Alport syndrome gene panel) to Alport syndrome 1, X-linked OMIM:301050",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2021-03-10T17:02:10.795538Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A4 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria,familial benign; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal recessive; (originally on Alport syndrome gene panel) to Alport syndrome 2, autosomal recessive OMIM:203780; Hematuria, familial benign OMIM:141200",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2021-03-10T16:52:27.940906Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780; Hematuria, benign familial, 141200; Alport syndrome, autosomal dominant, 104200; Alport Syndrome; Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; thin glomerular basement membrane nephropathy or Alport syndrome; Alport syndrome, autosomal dominant; Alport syndrome, autosomal recessive; Alport Syndrome; (originally on Alport syndrome gene panel) to Alport syndrome, autosomal dominant OMIM:104200; Alport syndrome, autosomal recessive OMIM:203780; Hematuria, benign familial OMIM:141200",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2021-03-10T16:51:37.458448Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from Exophytic renal cysts; raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps \t611773; HANAC to Exophytic renal cysts; haematuria; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-10-15T17:32:43.888653Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.5",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-04T11:49:27.301131Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.4",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-04T11:48:53.897969Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.3",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-03T13:21:01.125810Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "2.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-03T13:18:36.325040Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.31",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-15T10:24:00.040115Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.30",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from Alport syndrome; Familial haematuria to Alport syndrome; Familial haematuria; R194",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-06-17T21:10:41.647424Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.28",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: NPHS2 were changed from Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2 to Hematuria, Benign Familial; Alport Syndrome, X-Linked; Alport Syndrome, Autosomal Recessive; Alport Syndrome, Autosomal Dominant; Nephrotic Syndrome, Type 2; ?Modifier of COL4A variants",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2019-06-17T21:10:24.994782Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.27",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: NPHS2 were set to ",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2019-06-17T21:09:45.056275Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure to Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-06-17T21:09:16.066578Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: MYH9 were set to 10973259",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-06-17T21:08:12.166128Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.24",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: COL4A4 were set to 17942953",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2019-06-17T21:07:03.412624Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: COL4A3 were set to 17942953",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2019-06-17T21:06:04.699588Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.22",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to 18160688; 20818663; 27190376; 26839400; 26260163; 28717939",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-02-12T22:52:43.078727Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR5 were changed from Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria to Haematuria; C3 glomerulopathy; kidney failure; macroscopic haematuria; Nephropathy due to CFHR5 deficiency #614809",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2019-02-12T22:47:48.604170Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.20",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2019-02-12T22:46:56.204641Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.19",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CFHR5 as Amber List (moderate evidence)",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2019-02-12T22:46:56.202390Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.19",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting to Amber after discussion with NHS GMS renal specialist group on 2019-02-04. Newcastle group report that they had 1 family with a variant in this gene.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2019-02-12T22:46:56.187576Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.19",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2019-02-06T15:23:32.872774Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: NPHS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.660598Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 26138234; Phenotypes: ?Modifier of COL4A variants; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.647554Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 12792306, 22627578; Phenotypes: Epstein syndrome #153650, Fechtner syndrome #153640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.634930Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.621544Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29987460, 29270492; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.608175Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.595333Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30506145, 29987460, 24052634 ; Phenotypes: Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.582179Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 27190376, 19238787; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #61173; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:19:27.568661Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.18",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID:23402027; Phenotypes: Nephropathy due to CFHR5 deficiency #614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:31.249525Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to NPHS2.",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:31.181020Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to MYH9.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:31.102123Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A6.",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:31.041444Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A5.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:30.970552Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:30.902245Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A3.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:30.838795Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to COL4A1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-02-03T15:10:30.766703Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.17",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to CFHR5.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:42:18.949015Z",
"panel_name": "Haematuria",
"panel_id": 99,
"panel_version": "1.15",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Familial haematuria to Haematuria\nList of related panels changed from Alport syndrome to Alport syndrome; Familial haematuria\nPanel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-11-02T09:48:31.586000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2017-11-02T09:48:28.096000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified COL4A1 as green",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2017-11-01T10:35:43.385000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified COL4A1 as amber",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2017-11-01T10:35:43.384000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on COL4A1",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2017-11-01T10:28:00.972000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified COL4A1 as amber",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2016-12-07T11:49:41.717000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "John Sayer",
"item_type": "entity",
"text": "added COL4A1 to panel",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2016-12-07T11:49:41.621000Z",
"panel_name": "Familial haematuria",
"panel_id": 99,
"panel_version": null,
"user_name": "John Sayer",
"item_type": "entity",
"text": "reviewed COL4A1",
"entity_name": "COL4A1",
"entity_type": "gene"
}
]