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[
{
"created": "2024-05-01T12:37:03.741470Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version 2.14 has been signed off on 2024-05-01",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-14T12:11:57.923684Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TBX1 as Amber List (moderate evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:11:57.917640Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green on this panel (at least three cases of parathyroid dysfunction, including a patient with isolated hypoparathyroidism) at the next GMS panel update.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:11:57.887795Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:10:24.308565Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome, OMIM:188400; Conotruncal anomaly face syndrome, OMIM:217095; Velocardiofacial syndrome, OMIM:192430",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:10:18.119722Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TBX1 were set to 30137364",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:10:10.258629Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_23_promote_green tag was added to gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:09:50.183114Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: DiGeorge syndrome, OMIM:188400, Conotruncal anomaly face syndrome, OMIM:217095, Velocardiofacial syndrome, OMIM:192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-11-01T12:53:20.576988Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: STX16: When the copy number coordinates have been established by ClinGen for STX16, this information will be added to the Familial hypoparathyroidism panel",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-11-01T12:49:08.240395Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag non-coding-known-pathogenic tag was added to gene: STX16.\nTag cnv tag was added to gene: STX16.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:50:06.909684Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_22_MOI tag was added to gene: STX16.\nTag Q4_22_promote_green tag was added to gene: STX16.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:48:43.311095Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: STX16: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:48:14.797939Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: STX16 as Amber List (moderate evidence)",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:48:14.782682Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:48:14.747286Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: stx16 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:39:22.075095Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Entity copied from Genomic imprinting v0.147",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-10-13T11:39:22.031212Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: STX16 was added\ngene: STX16 was added to Familial hypoparathyroidism. Sources: Literature\nMode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251\nPhenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2020-12-07T14:31:41.057356Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-02-25T10:13:46.840712Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.4",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-25T10:13:26.304781Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "2.3",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-23T12:02:24.892504Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"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": "2019-09-23T11:56:28.635691Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.14",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-23T11:51:36.781076Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.13",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-02T09:26:32.853192Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.12",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-15T13:07:04.659879Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.11",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from Familial or syndromic hypoparathyroidism to Familial or syndromic hypoparathyroidism; R153\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-02-05T14:42:10.270213Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: TBCE",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2019-02-05T14:41:04.464243Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PTH",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2019-02-05T14:40:23.200058Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GNA11",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-02-05T14:40:01.879954Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GCM2",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2019-02-05T14:39:37.071954Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GATA3",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2019-02-05T14:37:26.938172Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CASR",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2019-02-05T14:36:36.699742Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: AIRE",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2019-01-10T14:37:33.447190Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TBX1 as Red List (low evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2019-01-10T14:37:33.444953Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2019-01-10T14:37:33.423895Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Red List (Low Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2019-01-10T14:32:09.312145Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: TBX1 were set to PMID: 30137364",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2019-01-09T19:08:30.913837Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.8",
"user_name": "Treena Cranston",
"item_type": "entity",
"text": "reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2019-01-09T19:02:26.348577Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.8",
"user_name": "Treena Cranston",
"item_type": "entity",
"text": "gene: TBX1 was added\ngene: TBX1 was added to Familial hypoparathyroidism. Sources: Other\nMode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX1 were set to PMID: 30137364\nPenetrance for gene: TBX1 were set to unknown\nReview for gene: TBX1 was set to RED\nAdded comment: Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration \nSources: Other",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2018-11-12T14:19:08.105868Z",
"panel_name": "Familial hypoparathyroidism",
"panel_id": 312,
"panel_version": "1.7",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel name changed from Familial or syndromic hypoparathyroidism to Familial hypoparathyroidism\nList of related panels changed from to Familial or syndromic hypoparathyroidism\nPanel types changed to Rare Disease 100K; GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-06-07T07:50:34.278000Z",
"panel_name": "Familial or syndromic hypoparathyroidism",
"panel_id": 312,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "classified TBCE as green",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2017-06-07T07:49:59.161000Z",
"panel_name": "Familial or syndromic hypoparathyroidism",
"panel_id": 312,
"panel_version": null,
"user_name": "Helen Brittain",
"item_type": "entity",
"text": "reviewed TBCE",
"entity_name": "TBCE",
"entity_type": "gene"
}
]