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[
{
"created": "2023-03-22T16:05:47.192148Z",
"panel_name": "Membranoproliferative glomerulonephritis including C3 glomerulopathy",
"panel_id": 83,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:05:06.917619Z",
"panel_name": "Membranoproliferative glomerulonephritis including C3 glomerulopathy",
"panel_id": 83,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T11:17:48.359233Z",
"panel_name": "Membranoproliferative glomerulonephritis including C3 glomerulopathy",
"panel_id": 83,
"panel_version": "2.32",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel name changed from Membranoproliferative glomerulonephritis to Membranoproliferative glomerulonephritis including C3 glomerulopathy\nList of related panels changed from PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; Primary membranoproliferative glomerulonephritis; R197 to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; Primary membranoproliferative glomerulonephritis; Membranoproliferative glomerulonephritis; R197",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-01-30T16:54:45.927720Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: CFHR5.\nTag Q2_22_NHS_review was removed from gene: CFHR5.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2023-01-30T16:54:34.133365Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CFHR5 as Green List (high evidence)",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2023-01-30T16:54:34.127447Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.31",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: cfhr5 has been classified as Green List (High Evidence).",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2023-01-30T16:42:42.694912Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.30",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: CFHR5",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2023-01-30T16:42:17.184102Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.29",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source NHS GMS was added to CFHR5.\nMode of inheritance for gene CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-11-22T13:52:03.583544Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.28",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; to: Comment on mode of inheritance: Changing the MOI to BIALLELIC, autosomal or pseudoautosomal as per the signed off version 2.13 (Oct 2020) and as agreed with NHSE.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-11-22T13:51:09.798083Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.28",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-11-22T13:51:09.782868Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.28",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-11-22T13:50:43.606064Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.27",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changing the MOI to BIALLELIC, autosomal or pseudoautosomal as per the signed off version 2.13 (Oct 2020) and as agreed with NHSE.",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-11-22T13:50:43.588418Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.27",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGKE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-03T12:25:32.496332Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.26",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: CFHR2.",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:31:31.408738Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_22_NHS_review tag was added to gene: CFHR5.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:31:08.522182Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Daniel Gale confirms that the mode of inheritance should be monoallelic only.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:31:08.508964Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.26",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:30:22.401751Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.25",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR5 were changed from C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Nephropathy due to CFHR5 deficiency,614809; Immune-complex-mediated MPGN; CFHR5 nephropathy to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Nephropathy due to CFHR5 deficiency, OMIM:614809; Immune-complex-mediated MPGN; CFHR5 nephropathy; Haematuria; Chronic Kidney Disease; Proteinuria; End stage renal disease",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:29:09.592272Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.24",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961; 22503529",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:26:42.422385Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Updating as per reviewer suggestion",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-12T16:26:42.405089Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.23",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CFHR5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-07T13:12:32.257523Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.22",
"user_name": "Daniel Gale",
"item_type": "entity",
"text": "reviewed gene: CFHR5: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 20800271, 21566112, 30844074, 28729035, 32928961, 24067434, 27490940, 33753502, 30197990, 24067434; Phenotypes: Haematuria, C3 glomerulopathy, Chronic Kidney Disease, Proteinuria, End stage renal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:24:01.084679Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.22",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as Both mono and biallelic just now, but only monoallelic cases confirmed so recommending a change to this mode of inheritance.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:24:01.069491Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.22",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:22:56.111467Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: CFHR5.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:22:22.491705Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CFHR5: Rating: ; Mode of pathogenicity: None; Publications: 20800271, 22503529, 23402027, 24334459, 24067434, 34566977; Phenotypes: Nephropathy due to CFHR5 deficiency, OMIM:614809; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2022-02-09T20:43:04.003770Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: DGKE.",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-02-09T20:42:44.026661Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: CFH.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-02-09T20:41:45.387658Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: CFI.",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-02-09T20:41:23.640831Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag to_be_confirmed_NHSE tag was added to gene: CFB.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2021-10-14T11:10:43.259032Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: CFB: In OMIM this gene is also provisionally associated with Complement factor B deficiency based on evidence from one family with biallelic variants in CFB. However, given the phenotype/level of evidence it is not appropriate to change the mode of inheritance to Both monoallelic and biallelic on this panel.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2021-07-13T10:34:26.944134Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Previously:\r\nHaemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 5,612925; C3 glomerulopathy; C3G; C3 deficiency, 613779; Immune complex MPGN; IC-MPGN",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2021-07-13T10:34:26.914500Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 5,612925; C3 glomerulopathy; C3G; C3 deficiency, 613779; Immune complex MPGN; IC-MPGN to Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925; C3 glomerulopathy; C3G",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:33:11.467170Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: PMID 22503529 reports a heterozygous 1bp insertion variant (rs565457964) in a child with Nephropathy due to CFHR5 deficiency OMIM:614809.; to: PMID 22503529 reports a heterozygous 1bp insertion variant (rs565457964) in a child with Nephropathy due to CFHR5 deficiency OMIM:614809 and persistent renal disease following a streptococcal infection. The variant was also seen in her unaffected mother and sister, which suggested that this variant is not sufficient to cause disease, but likely acts as a susceptibility factor for the development of glomerulonephritis.",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:29:29.783054Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: CFHR5",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:25:30.968350Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:24:13.327765Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.19",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112; 32928961]",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:22:52.984128Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.18",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560; 21566112",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-04-07T16:11:17.870023Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: CFHR5 were set to 24172683; 20800271; 24067434; 23728178; 27458560",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:54:38.311948Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.16",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Reverting the mode of inheritance to BOTH monalllelic and biallelic to reflect the signed off version in March 2020. However, the recommendation is to change this to just BIALLELIC, following GMS review.",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:54:38.295868Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.16",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGKE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:54:15.831775Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: DGKE.",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:53:04.674070Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CFH.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:52:48.565140Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Reverting the mode of inheritance to BOTH monalllelic and biallelic to reflect the signed off version in March 2020. However, the recommendation is to change this to just BIALLELIC, following GMS review.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2021-01-19T14:52:48.550996Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:13:34.255211Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.14",
"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": "2020-10-16T08:12:16.885816Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CFI.",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:11:23.845447Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CFB as Green List (high evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:11:23.840467Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:11:23.801164Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cfb has been classified as Green List (High Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:10:55.475945Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: CFI as Green List (high evidence)",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:10:55.470660Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed rating to Green to reflect NHS signed-off rating, will be examined at next panel review.",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-10-16T08:10:55.431455Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: cfi has been classified as Green List (High Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-06-24T11:38:05.893221Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CFB.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-03-24T13:30:00.137081Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Downgrading from Green to Amber. Expert review highlights that some cases come from a gene panel screen with no segregation or additional functional data.; to: Comment on list classification: Downgrading from Green to Amber. Expert review highlights that some cases come from a gene panel screen with no segregation or additional functional data. This decision has been discussed with the Genomics England Clinical team",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-03-24T13:25:22.739351Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CFB was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-03-24T13:24:58.585625Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CFB as Amber List (moderate evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-03-24T13:24:58.580183Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgrading from Green to Amber. Expert review highlights that some cases come from a gene panel screen with no segregation or additional functional data.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-03-24T13:24:58.552161Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: cfb has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:41:32.891453Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changing MOI to Biallelic only. All reported cases are homozygous.",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:41:32.877097Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGKE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:37:07.338679Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CFI as Amber List (moderate evidence)",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:37:07.333507Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changing rating from Green to Amber. Expert review has rated this gene red. No famililal cases reported, and cases that are reported looked at candidate genes only.",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:37:07.306682Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: cfi has been classified as Amber List (Moderate Evidence).",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:31:51.142769Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Updating MOI to Biallelic only, after expert reviewer notes that only biallelic variants are associated with C3 glomerulopathy. They note monoalleleic defects are linked with aHUS but NOT MPGN",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:31:51.128035Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:30:38.619168Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: CFH were set to 24172683; 16612335; 24722444; 27458560",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:02:47.026656Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Gain of function mutations associated with familial C3G/MPGN",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2020-03-23T11:02:47.001079Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C3 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2020-03-04T13:27:13.930861Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"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": "2020-01-29T22:59:00.985244Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: C3: Green review by Daniel Gale agrees with Green rating and gain of function mode of pathogenicity. Should change the Mode of Pathogenicity to make it clear that Loss of function variants are not associated with the disease phenotype.",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2020-01-29T22:50:18.580494Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4}\t(#612924) in OMIM. \r\n\r\nPMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found. \r\n\r\nPMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. \r\n\r\nPMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.; to: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4}\t(#612924) in OMIM. \r\n\r\nPMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found. Note (added 29-01-2020) - the 52 year old father was found to have the same heterozygous CFB gene variant but showed no evidence of renal function impairment, proteinuria, hematuria, or hemolysis.\r\n\r\nPMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. \r\n\r\nPMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-01-29T22:41:01.859952Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: CFH: Following expert review, the mode of inheritance for this gene on this panel should be updated to BIALLELIC only.",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-01-29T22:25:05.231398Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: CFI: Added comment: Only renal phenotype in OMIM this gene is associated with is {Hemolytic uremic syndrome, atypical, susceptibility to, 3} 612923. \r\n\r\nPapers cited by the BRIDGE consortium \r\nPMID: 18371543 - Boyer et al 2008 - Patient 1 with atypical hemolytic and uremic syndrome had combined CFH and CFI heterozygous mutations. \r\n\r\nPMID: 22456601 - Servais et al 2012 - for 141 patients from 45 centers with a definite diagnosis of primary MPGN I, DDD, or GNC3 they performed direct sequencing of CFH, CFI, or MCP exons and of a set of 10 SNPs within the CFH and MCP genes. 6 patients had heterozygous variants in CFI, 3 of which are reported in patients with MPGN histology (Table 2). \r\n\r\nFollowing expert review rating this gene Red, and review of the literature this gene should be down graded to Amber or Red.; Changed rating: RED",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-01-29T17:04:27.448863Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "edited their review of gene: DGKE: Added comment: Recent review by Daniel Gale rates the gene green so no change in rating. \r\n\r\nChecking mode of inheritance:\r\nPMID: 23274426 - Ozaltin et al 2013 - 3 consanguineous families - 3 different homozygous variants in 9 individuals.\r\nPMID: 28526779 - Azukaitis et al 2017 - review of 24 patients with aHUS/MPGN and variants in DGKE. The 9 cases with MPGN-like renal biopsies are those reported in Ozaltin et al 2013\r\n\r\nOther papers cited by BRIDGE review are related to aHUS only (PMID: 23542698 and 21902819)\r\n\r\nOMIM lists the mode of inheritance for Nephrotic syndrome, type 7, #615008 as AR. \r\n\r\nTherefore, the mode of inheritance should be updated to BIALLELIC only.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2020-01-10T11:37:14.041000Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Daniel Gale",
"item_type": "entity",
"text": "reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23274426; Phenotypes: Proteinuria, membranoproliferative glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:26:50.765838Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Daniel Gale",
"item_type": "entity",
"text": "reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:22:03.743603Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Daniel Gale",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9312129; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:18:49.035574Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Daniel Gale",
"item_type": "entity",
"text": "reviewed gene: CFB: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25758434; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:08:30.045285Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.2",
"user_name": "Daniel Gale",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 20852386, 26471127; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-10-09T07:08:35.927326Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; R197 to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; Primary membranoproliferative glomerulonephritis; R197",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-19T11:53:27.968837Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "2.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-19T11:52:26.958866Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.17",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-15T10:30:18.499124Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.16",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "List of related panels changed from PMG; MPGN; Primary Membranoproliferative Glomerulonephritis to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; R197",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-15T09:46:12.789803Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: CFB as Green List (high evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:46:12.787396Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from Amber to Green. Sufficient cases reported.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:46:12.753603Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.15",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: cfb has been classified as Green List (High Evidence).",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:45:16.300699Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4}\t(#612924) in OMIM. \r\n\r\nPMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. \r\n\r\nPMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.; to: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4}\t(#612924) in OMIM. \r\n\r\nPMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found. \r\n\r\nPMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. \r\n\r\nPMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:40:16.459532Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CFB were changed from Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN to Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; MPGN; Membranoproliferative glomerulonephritis",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:39:47.982871Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.13",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: CFB were set to 25758434; 17182750; 21902819",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:37:43.346659Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Gain of function proposed",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:37:43.336024Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.12",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CFB was changed from to Other",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:37:26.195728Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Familial case reported shows a monoallelic mode of inheritance",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:37:26.181842Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-15T09:36:28.376363Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: CFB: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4}\t(#612924) in OMIM. \r\n\r\nPMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given. \r\n\r\nPMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:11:46.580480Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: C3 as Green List (high evidence)",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:11:46.577969Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: 2 cases plus functional data and expert review green.",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:11:46.560847Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.10",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:11:14.772585Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.9",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: C3 were set to 24172683; 20852386; 18796626; 21902819",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:11:00.480007Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: Gain of function",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:11:00.466085Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C3 was changed from to Other",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:10:46.592320Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: C3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-14T18:09:43.609592Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: C3: Associated with C3 deficiency (#613779) and {Hemolytic uremic syndrome, atypical, susceptibility to, 5} (#612925) in OMIM. \r\n\r\nPMID: 20852386 - Martínez-Barricarte et al 2010 - report a case a mother and her two identical twin sons with Dense deposit disease (DDD) caused by a heterozygous variant in the C3 gene. The mutation, c.2767_2774delACGGTG (C3923ΔDG) in exon 21, results in a mutated protein (C3923ΔDG) lacking 2 amino acids (Asp923 and Gly924) in the MG7 domain of C3. The deletion was only present in affected family members. Functional studies suggest a gain of function. \r\n\r\nPMID: 26471127 - Chauvet et al 2016 - report functional characterization of a C3 mutation identified in two brothers with C3GN (C3 glomerulopathy). Both carry the same c.2327T>C heterozygous mutation in the C3 gene, leading to p.I756T. The mutation was not found in the 1000 genomes or EVS databases. In vitro the C3 mutation exhibited decreased binding to CR1, resulting in less CR1-dependent cleavage of C3b by factor 1.",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-08-06T10:09:38.440739Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.6",
"user_name": "David Kavanagh",
"item_type": "entity",
"text": "reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26283675, 25758434; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-08-06T10:04:57.321980Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.6",
"user_name": "David Kavanagh",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20852386, 26471127; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-03-28T07:07:44.680677Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2019-03-28T07:07:15.277460Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:13:02.768513Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:13:02.755145Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:13:02.741909Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:13:02.726145Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:13:02.709190Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.5",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:10:35.932235Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to DGKE.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:10:35.877336Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to CFB.",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:10:35.816615Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to C3.",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:10:35.758160Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to CFI.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2019-02-12T12:10:35.688090Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.4",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Source NHS GMS was added to CFH.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:44:48.309837Z",
"panel_name": "Membranoproliferative glomerulonephritis",
"panel_id": 83,
"panel_version": "1.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Primary Membranoproliferative Glomerulonephritis to Membranoproliferative glomerulonephritis\nList of related panels changed from PMG; MPGN to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis\nPanel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-12-17T22:37:07.260706Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DGKE as ready",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2017-12-17T22:35:14.750660Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DGKE as Green List (high evidence)",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2017-12-15T16:48:25.132043Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-12-15T16:33:12.293386Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed CFB",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2017-12-15T16:20:43.322268Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified CFB as Amber List (moderate evidence)",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2017-12-15T16:18:38.086508Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DGKE as ready",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2017-12-15T16:09:22.958847Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DGKE as Amber List (moderate evidence)",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2017-12-15T16:07:14.422126Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CD46 as ready",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:59:36.234213Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked C3 as ready",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:53:46.484082Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "edited their review of CFB",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:53:45.965675Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed CFB",
"entity_name": "CFB",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:40:39.281457Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CFI as ready",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:36:24.177598Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CFHR5 as ready",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:35:00.041325Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CFHR2 as ready",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:33:51.565110Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CFHR1 as ready",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2017-12-15T15:31:50.920234Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CFH as ready",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:57:09.290000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified CFI as green",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:56:36.165000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified CFHR5 as green",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:56:03.643000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified CFHR2 as green",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:55:18.926000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified CFHR1 as green",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:53:37.684000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "classified CFH as green",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.800000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed DGKE",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.721000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CFI",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.643000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CFHR5",
"entity_name": "CFHR5",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.569000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CFHR2",
"entity_name": "CFHR2",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.493000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CFHR1",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.417000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CFH",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2017-06-05T15:49:32.340000Z",
"panel_name": "Primary Membranoproliferative Glomerulonephritis",
"panel_id": 83,
"panel_version": null,
"user_name": "BRIDGE consortium",
"item_type": "entity",
"text": "reviewed CFB",
"entity_name": "CFB",
"entity_type": "gene"
},
{
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]