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[
{
"created": "2024-04-10T19:07:17.367148Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.11",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: KDM1A were changed from Food-dependent Cushing syndrome (FDCS) to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; congenital adrenal hyperplasia, MONDO:0018479",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2024-04-10T19:06:56.643065Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: KDM1A as Red List (low evidence)",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2024-04-10T19:06:56.631984Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.10",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: kdm1a has been classified as Red List (Low Evidence).",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2024-04-10T19:06:39.922180Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.9",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: KDM1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728, congenital adrenal hyperplasia, MONDO:0018479; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2023-11-08T09:49:11.050408Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.9",
"user_name": "Lauma Freimane",
"item_type": "entity",
"text": "edited their review of gene: KDM1A: Changed publications to: 34906447, 34655521",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2023-11-08T09:39:50.911667Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.9",
"user_name": "Lauma Freimane",
"item_type": "entity",
"text": "gene: KDM1A was added\ngene: KDM1A was added to Congenital adrenal hypoplasia. Sources: Expert Review\nMode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM1A were set to 34906447\nPhenotypes for gene: KDM1A were set to Food-dependent Cushing syndrome (FDCS)\nReview for gene: KDM1A was set to GREEN\ngene: KDM1A was marked as current diagnostic\nAdded comment: KDM1A inactivation explains about 90% of food-dependent Cushing syndrome observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) (PMID: 34906447). \nSources: Expert Review",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2023-02-28T10:53:28.906522Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: CYP11B2: 'Treatable' tag has been added as children with ASD achieved catchup growth when treated with fludrocortisone.",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-28T10:39:38.240127Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CYP11B2.",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:04:00.990516Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: CYP11B2.",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:03:22.081618Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "edited their review of gene: CYP11B2: Changed phenotypes to: Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400, Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600, Aldosterone to renin ratio raised",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:02:48.448515Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600 to Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Aldosterone to renin ratio raised",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:02:10.854045Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: CYP11B2 were changed from Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive to Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400; Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:01:53.916404Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:01:37.833296Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: CYP11B2 as Amber List (moderate evidence)",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:01:37.826421Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: cyp11b2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-02-27T14:01:13.174479Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594605, 8439335, 9360501, 12788848, 31302112, 33098647, 33438832, 34415991, 35848593; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400, Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:35:17.827802Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_MOI was removed from gene: CYP11A1.",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2023-01-31T16:34:57.007099Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: CYP11A1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:48:04.800686Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:47:18.310208Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"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": "2022-11-01T16:27:53.423610Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.11",
"user_name": "Abhijit Dixit",
"item_type": "entity",
"text": "gene: CYP11B2 was added\ngene: CYP11B2 was added to Congenital adrenal hypoplasia. Sources: Literature\nMode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP11B2 were set to 1594605; 8439335; 9360501; 12788848\nPhenotypes for gene: CYP11B2 were set to Hypoaldosteronism; Hyponatremia; Hyperkalemia; Increased serum renin; Dehydration; Failure to thrive\nPenetrance for gene: CYP11B2 were set to Complete\nReview for gene: CYP11B2 was set to GREEN\nAdded comment: There are numerous reports of aldosterone deficiency as a consequence of biallelic CYP11B2 variants in literature from 1990s onwards. Miao et al. reviewed 45 published cases in 2019 - see PubMed 31302112. \nSources: Literature",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2022-06-07T11:04:55.663071Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_MOI tag was added to gene: CYP11A1.",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-06-07T11:04:01.234645Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: CYP11A1 were set to ",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-06-07T11:01:02.236985Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update.",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-06-07T11:01:02.195666Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:32:06.197646Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: POLE.",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:31:50.537916Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2022-03-03T13:31:46.894557Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to POLE.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:53:27.637688Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743; Congenital Adrenal Insufficiency to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2021-01-28T13:04:07.205072Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: POLE as Amber List (moderate evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-01-28T13:04:07.196909Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pole has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-01-28T13:04:01.216960Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Congenital adrenal hypoplasia. Sources: Expert Review\nfor-review tags were added to gene: POLE.\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to 14760276; 30503519\nPhenotypes for gene: POLE were set to IMAGE-I syndrome, OMIM:618336\nReview for gene: POLE was set to GREEN\nAdded comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore, enough evidence to support a gene-disease association. This gene should be Green at the next review.\r\n\r\nThis gene was also proposed to be added and given Green status by Soo-Mi Park (East Anglian Medical Genetics Service). \nSources: Expert Review",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2020-12-18T15:34:39.546994Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima), 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-02-19T16:07:53.263639Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-13T11:36:43.809178Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag watchlist was removed from gene: SGPL1.",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2020-01-13T11:36:29.702325Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SGPL1",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-07-31T14:08:52.184373Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "2.0",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-15T12:38:49.046378Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R150\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-15T12:30:37.895748Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: STAR were changed from Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia to Ideopathic Primary Adrenal Failure; Congenital Adrenal Hypoplasia; Lipoid adrenal hyperplasia, 201710",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2019-07-15T12:28:45.303393Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome) to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2019-07-15T12:27:50.457441Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima) to Triple A syndrome (Addisons, achalasia, alacrima), 231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2019-03-05T11:22:05.835673Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "commented on gene: CDKN1C",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:52:49.776587Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TBX19",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:52:25.552891Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: STAR",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:51:54.562863Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SGPL1",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:51:47.087318Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SAMD9",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:51:41.489672Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NR5A1",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:48:56.922823Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NR0B1",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:48:49.759154Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: NNT",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:48:45.145870Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MRAP",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:48:35.806872Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MC2R",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:47:22.051807Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CYP11A1",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:47:14.977633Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CDKN1C",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:47:09.117803Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AIRE",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:47:01.911194Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AAAS",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2018-11-12T14:17:57.706018Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": "1.6",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "List of related panels changed from to \nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-05-12T09:01:30.755738Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on ABCD1",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2017-12-15T09:31:51.200376Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified SGPL1 as Green List (high evidence)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2017-11-27T15:58:04.284035Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "Added gene to panel",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2017-05-15T08:44:12.960000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified SAMD9 as green",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2017-05-15T08:43:52.777000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "marked SAMD9 as ready",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2017-05-15T08:42:50.246000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "added SAMD9 to panel",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2017-05-15T08:42:50.068000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed SAMD9",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2017-02-06T15:00:11.257000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-02-06T14:29:32.131000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked MCM4 as ready",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2017-02-06T14:29:29.495000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified MCM4 as amber",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2017-02-06T14:28:23.152000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked TBX19 as ready",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2017-02-06T14:28:17.160000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified TBX19 as green",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2017-02-06T14:27:11.290000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "marked HSD3B2 as ready",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2017-02-06T14:27:06.663000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified HSD3B2 as red",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:28:06.371000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of TBX19",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:25:22.837000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified TBX19 as amber",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:25:22.836000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on TBX19",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:18:49.521000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified HSD3B2 as amber",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:18:49.520000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on HSD3B2",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2017-02-02T14:12:56.630000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on MCM4",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2016-09-11T09:03:31.013000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "marked TXNRD2 as ready",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2016-09-11T09:03:25.031000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "classified TXNRD2 as red",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2016-09-11T09:03:25.030000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "commented on TXNRD2",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:56:13.549000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "marked AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:55:56.440000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "classified AAAS as green",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:55:56.439000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "commented on AAAS",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:54:20.821000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "marked STAR as ready",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:53:33.989000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "classified STAR as green",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:53:33.988000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "commented on STAR",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:34:26.053000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "marked NR5A1 as ready",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:32:18.190000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "classified NR5A1 as green",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:32:18.189000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "commented on NR5A1",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2016-09-11T08:28:39.169000Z",
"panel_name": "Congenital adrenal hypoplasia",
"panel_id": 145,
"panel_version": null,
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "marked NNT as ready",
"entity_name": "NNT",
"entity_type": "gene"
}
]