HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
[
{
"created": "2024-01-23T15:10:53.795652Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag currently-ngs-unreportable was removed from gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2024-01-23T14:59:40.465369Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified STR: CNBP_CCTG as Amber List (moderate evidence)",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2024-01-23T14:59:40.451609Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.17",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2024-01-23T14:58:45.352389Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2024-01-23T14:49:53.674547Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag NGS Not Validated was removed from STR: CNBP_CCTG.\nTag Q1_24_promote_green tag was added to STR: CNBP_CCTG.",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2024-01-23T14:49:19.986683Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2024-01-23T14:47:33.467909Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.16",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2023-10-11T10:55:22.409994Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.14",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green was removed from gene: ADSSL1.",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:54:35.576784Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.14",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-10-11T10:53:14.244337Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.13",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Source Expert Review Green was added to ADSSL1.\nSource NHS GMS was added to ADSSL1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-08-10T17:16:28.308245Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GIPC1 as Red List (low evidence)",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T17:16:28.304649Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene will remain red as it is only the GIPC1_GGC expansion that has been associated with disease.",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T17:16:28.251059Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.12",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: gipc1 has been classified as Red List (Low Evidence).",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T17:14:50.431176Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: GIPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T17:03:15.948672Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy 2, OMIM:618940 to Oculopharyngodistal myopathy 2, OMIM:618940; oculopharyngodistal myopathy 2, MONDO:0030134",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:55:59.434498Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag STR tag was added to gene: GIPC1.",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:55:45.358998Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GIPC1 as Red List (low evidence)",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:55:45.346826Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: gipc1 has been classified as Red List (Low Evidence).",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:55:23.276835Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: GIPC1 as Amber List (moderate evidence)",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:55:23.264312Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: gipc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:50:11.729749Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q3_23_promote_green tag was added to gene: SMPX.\nTag Q3_23_MOI tag was added to gene: SMPX.",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-08-10T16:49:46.330916Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: SMPX: Added comment: Hemizygous variants in SMPX have been associated with Myopathy, distal, 7, adult-onset, X-linked (OMIM:301075), but not been associated with phenotype in Gen2Phen. PMID: 33974137 reports four SMPX variants in seven families without shared haplotypes. In vitro studies suggested a gain-of-function action of these variants, resulting a protein that was less soluble compared to wildtype, which in some cases had a tendency to aggregate.; Changed rating: GREEN",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-08-10T15:58:39.523970Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: SMPX were changed from Distal myopathy to Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075; myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-08-10T15:56:07.266229Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: SMPX were set to PMID: 33974137",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-08-10T15:55:38.280323Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: SMPX as Amber List (moderate evidence)",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-08-10T15:55:38.275627Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.6",
"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": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-08-10T15:55:38.223407Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.6",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: smpx has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:51:11.856606Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_23_promote_green tag was added to gene: ADSSL1.",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:50:49.051992Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There are sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood. \r\n\r\nThis gene has also been associated with distal myopathy in OMIM (MIM #617030).\r\n\r\nThis gene can therefore be promoted to GREEN at the next major review.; to: Comment on list classification: There is sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood. \r\n\r\nThis gene has also been associated with distal myopathy in OMIM (MIM #617030).\r\n\r\nThis gene can therefore be promoted to GREEN at the next major review.",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:49:07.313024Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:49:01.554726Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:55.462927Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:49.411234Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.6",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:48.116640Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:43.533098Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:38.123777Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:32.492768Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222; 28268051; 32331917; 32646962; 35668205",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:26.760566Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Publications for gene: ADSSL1 were set to 26506222",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:21.290622Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:15.983012Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:10.292582Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:48:04.840901Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:59.269601Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, OMIM:617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:53.502822Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: ADSSL1 were changed from Myopathy, distal, 5, 617030 to Myopathy, distal, 5, OMIM:617030",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:26.275389Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ADSSL1 as Amber List (moderate evidence)",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:26.268157Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood. \r\n\r\nThis gene has also been associated with distal myopathy in OMIM (MIM #617030).\r\n\r\nThis gene can therefore be promoted to GREEN at the next major review.",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:26.230677Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: adssl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:20.850738Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: ADSSL1 as Amber List (moderate evidence)",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:20.847202Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Added comment: Comment on list classification: There are sufficient evidence (~70 unrelated cases) for the association of biallelic variants from this gene with distal myopathies. The onset of distal muscle weakness is during adolescence/ adulthood. \r\n\r\nThis gene has also been associated with distal myopathy in OMIM (MIM #617030).\r\n\r\nThis gene can therefore be promoted to GREEN at the next major review.",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:20.827365Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: adssl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-04-13T10:47:04.866096Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26506222, 28268051, 32331917, 32646962, 35668205; Phenotypes: Myopathy, distal, 5, OMIM:617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2023-03-22T14:57:23.793311Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T14:56:35.693654Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "3.0",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-04T17:55:32.994557Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2023-03-04T17:55:27.586404Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2023-03-04T17:55:21.787861Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar 3, 609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:44:42.263629Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.3",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q4_21_MOI was removed from gene: CRYAB.",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:44:14.980488Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.3",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Tag Q4_21_MOI was removed from gene: CNBP.\nTag Q4_21_rating was removed from gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:42:48.016856Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.3",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: CRYAB",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:42:48.000183Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.3",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "edited their review of gene: CNBP: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:42:47.985302Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.3",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "commented on gene: CNBP",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:38:32.361712Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.2",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source NHS GMS was added to CRYAB.\nMode of inheritance for gene CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2023-02-01T16:38:32.055994Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.2",
"user_name": "Mafalda Gomes",
"item_type": "entity",
"text": "Source Expert Review Red was added to CNBP.\nSource NHS GMS was added to CNBP.\nMode of inheritance for gene CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2022-11-30T13:42:50.103065Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T13:41:47.615875Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "2.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-08-03T15:25:51.370325Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TTN: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:56:47.104725Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ADSSL1",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:54:55.216911Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ADSSL1.",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2022-04-13T14:30:44.944521Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940 to Oculopharyngodistal myopathy 2, OMIM:618940",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2022-04-13T14:30:23.441391Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GIPC1 were set to 32413282",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:51:20.218378Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.45",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on STR: CNBP_CCTG",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2022-03-15T11:35:54.681531Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.45",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on STR: AR_CAG",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:04:30.802074Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified STR: AR_CAG as Green List (high evidence)",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T17:04:30.792847Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Str: ar_cag has been classified as Green List (High Evidence).",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:47.971273Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.\nSource Expert Review Red was added to STR: CNBP_CCTG.\nSource NHS GMS was added to STR: CNBP_CCTG.",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2022-03-10T16:42:38.951971Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Normal Number of Repeats for AR_CAG was changed from 34 to 35.\nSource NHS GMS was added to STR: AR_CAG.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2022-03-09T11:52:16.025124Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TTN",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-03-09T11:50:35.459912Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-02-09T14:56:21.492612Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DNM2 were changed from Myopathy, centronuclear,\t160150\t to Centronuclear myopathy 1, OMIM:160150",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2021-11-28T13:48:09.564183Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.38",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: SMPX was added\ngene: SMPX was added to Distal myopathies. Sources: Literature\nMode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SMPX were set to PMID: 33974137\nPhenotypes for gene: SMPX were set to Distal myopathy\nPenetrance for gene: SMPX were set to unknown\nMode of pathogenicity for gene: SMPX was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SMPX was set to GREEN\nAdded comment: Hemizygous variants in 10 patients from 9 families with functional data. \nSources: Literature",
"entity_name": "SMPX",
"entity_type": "gene"
},
{
"created": "2021-11-11T16:10:24.734521Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2021-11-09T15:24:34.472454Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-11-09T15:24:34.448068Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-11-09T15:24:20.918040Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag nucleotide-repeat-expansion tag was added to gene: DMPK.\nTag currently-ngs-unreportable tag was added to gene: DMPK.",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-11-09T11:51:56.815168Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism; to: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T11:50:11.101708Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_MOI tag was added to gene: CNBP.\nTag Q4_21_rating tag was added to gene: CNBP.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T11:48:40.970653Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: CNBP as Green List (high evidence)",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T11:48:40.967233Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Should be demoted to Red at the next GMS update, this review is for the STR entity and not the gene entity.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T11:48:40.949049Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: cnbp has been classified as Green List (High Evidence).",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T11:47:57.933606Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNBP was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T10:34:33.230358Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-11-09T10:34:33.212273Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-10-27T13:53:18.115937Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_MOI tag was added to gene: CRYAB.",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2021-10-27T13:52:51.899224Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. Predominantly monoallelic inheritance, though there are rare cases with biallelic variants where individuals tend to be more severely affected.",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2021-10-27T13:52:51.881603Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2021-10-27T13:45:36.925770Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar 2, 608810 to Myopathy, myofibrillar, 2, OMIM:608810; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2021-07-09T13:04:42.242323Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DMPK were changed from MYOTONIC DYSTROPHY 1 (DM1) to Myotonic dystrophy 1, OMIM:160900",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-07-05T09:30:57.589360Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA1 were changed from Nemaline myopathy 3, 161800 to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2021-04-19T08:46:27.981494Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GIPC1: Added comment: PMID 33374016: a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases from seven families and 20 sporadic cases). Overall, the repeat expansion in GIPC1 was identified in 51.9% independent pedigrees (4/7 families and 10/20 sporadic cases). The number of CGG repeats was <30 in controls but >60 in affected individuals. There was a slight correlation between repeat size and the age at onset. Both repeat expansion and retraction were observed during transmission but somatic instability was not evident.; Changed publications: 32413282, 33374016",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2021-01-12T22:38:08.157561Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Classified gene: LRIF1 as Amber List (moderate evidence)",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2021-01-12T22:38:08.152188Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Promoting from red to amber, and there is one case plus some functional data.",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2021-01-12T22:38:08.125998Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.29",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Gene: lrif1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2021-01-12T22:37:41.429707Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.28",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: LRIF1 was added\ngene: LRIF1 was added to Distal myopathies. Sources: Literature\nMode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRIF1 were set to 32467133\nPhenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy\nReview for gene: LRIF1 was set to AMBER\nAdded comment: Review from Bryony Thompson (Royal Melbourne Hospital) on gene in PanelApp Australia.\r\nhttps://panelapp.agha.umccr.org/panels/328/gene/LRIF1/:\r\nA single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. \nSources: Literature",
"entity_name": "LRIF1",
"entity_type": "gene"
},
{
"created": "2021-01-04T16:40:37.272054Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLNC were changed from myofibrillar myopathy 5, 609524; Distal myopathy 4, 614065 to Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-12-02T16:43:41.151940Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-12-02T16:05:41.749538Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2020-11-24T17:05:59.120820Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2020-11-24T17:04:41.751731Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2020-11-11T17:26:31.511186Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.22",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-11-11T17:25:48.142315Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.21",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-17T00:00:21.028986Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIPC1 was added\ngene: GIPC1 was added to Distal myopathies. Sources: Literature\nMode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GIPC1 were set to 32413282\nPhenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940\nMode of pathogenicity for gene: GIPC1 was set to Other\nReview for gene: GIPC1 was set to GREEN\nAdded comment: 19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays, and may be best dealt with as an STR disorder here. \nSources: Literature",
"entity_name": "GIPC1",
"entity_type": "gene"
},
{
"created": "2020-06-02T10:45:26.398213Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.20",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Skewed X-inactivation tag was added to gene: DMD.",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-03-02T14:52:46.277328Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.19",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T14:52:46.196910Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.19",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-12T12:47:45.334119Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.16",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-02T15:43:23.828567Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ADSSL1 as Amber List (moderate evidence)",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:43:23.822789Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: adssl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:42:07.691364Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ADSSL1 was added\ngene: ADSSL1 was added to Distal myopathies. Sources: Expert Review\nMode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADSSL1 were set to 26506222\nPhenotypes for gene: ADSSL1 were set to Myopathy, distal, 5, 617030\nReview for gene: ADSSL1 was set to AMBER\nAdded comment: New gene suggested by Anna Sarkozy for inclusion on the Distal myopathy panel \nSources: Expert Review",
"entity_name": "ADSSL1",
"entity_type": "gene"
},
{
"created": "2019-11-25T15:41:45.227621Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.12",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-12T15:34:13.470007Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on STR: CNBP_CCTG",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2019-11-12T15:29:32.846306Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag NGS Not Validated tag was added to STR: CNBP_CCTG.",
"entity_name": "CNBP_CCTG",
"entity_type": "str"
},
{
"created": "2018-12-07T10:42:59.966167Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.10",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-06T16:33:04.636453Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "edited their review of STR: AR_CAG: Changed phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-05T16:21:38.226615Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag STR tag was added to STR: AR_CAG.",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:29:20.793960Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Marked STR: AR_CAG as ready",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:29:20.790493Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:29:20.750775Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: ar_cag has been classified as Green List (High Evidence).",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:28:34.058834Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Classified STR: AR_CAG as Green List (high evidence)",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:28:34.051522Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.9",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "Str: ar_cag has been classified as Green List (High Evidence).",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-12-04T14:28:19.269093Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.8",
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "STR: AR_CAG was added\nSTR: AR_CAG was added to Distal myopathies. Sources: Expert list\nMode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nSTR: AR_CAG was marked as current diagnostic",
"entity_name": "AR_CAG",
"entity_type": "str"
},
{
"created": "2018-11-16T08:58:20.668620Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": "1.7",
"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": "2018-06-06T13:36:18.513634Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on STR: CNBP_CCTG",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2018-05-31T12:51:17.843898Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of STR: CNBP_CCTG",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2018-05-31T12:50:10.249288Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "edited their review of STR: CNBP_CCTG",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2018-05-31T12:50:03.146010Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "Added STR to panel",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2017-02-22T15:46:21.110000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-02-22T15:38:46.530000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked KLHL9 as ready",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2017-02-20T17:05:54.901000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2017-02-20T17:04:17.007000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified VCP as green",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2017-02-20T17:03:12.358000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2017-02-20T17:02:31.804000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified TTN as green",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2017-02-20T17:01:40.911000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:46:32.959000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked TIA1 as ready",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:46:00.371000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified TIA1 as green",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:45:33.477000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked SQSTM1 as ready",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:44:47.340000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified SQSTM1 as green",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:43:24.582000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked NEB as ready",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:40:52.940000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified NEB as green",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:39:44.205000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked MYOT as ready",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:38:09.520000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified MYOT as green",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:37:16.122000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked MATR3 as ready",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:35:05.092000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified MATR3 as green",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:34:20.751000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked LDB3 as ready",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:34:16.242000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked LDB3 as ready",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:32:51.460000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified LDB3 as green",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:29:19.496000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked HSPB8 as ready",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:28:31.840000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified HSPB8 as green",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:27:39.359000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked HSPB1 as ready",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:26:50.729000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified HSPB1 as green",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:20:45.753000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked GNE as ready",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:19:23.274000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified GNE as green",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:17:38.320000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked FHL1 as ready",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:16:13.273000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified FHL1 as green",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:14:28.399000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:13:01.718000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified FLNC as green",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:12:28.924000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:11:54.842000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:10:37.101000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DNM2 as green",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:08:49.379000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DYSF as ready",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:06:34.696000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DYSF as green",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:05:58.995000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DUX4 as ready",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:04:50.546000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on DUX4",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:03:43.551000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DUX4 as red",
"entity_name": "DUX4",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:03:03.014000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DNAJB6 as ready",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:02:35.636000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DNAJB6 as green",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2017-02-20T16:01:13.066000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DMPK as ready",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2017-02-20T15:56:41.271000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DMD as ready",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2017-02-20T15:56:41.269000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on DMD",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2017-02-20T15:55:59.389000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DMD as red",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:30:55.725000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:29:50.580000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified DES as green",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:26:01.091000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CRYAB as ready",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:20:57.019000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified CRYAB as green",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:18:13.750000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked CNBP as ready",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:12:17.388000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified CNBP as green",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:08:18.247000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked BAG3 as ready",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:06:01.012000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified BAG3 as green",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2017-02-20T12:03:10.309000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked ANO5 as ready",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2017-02-20T11:57:14.613000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified ANO5 as green",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2017-02-20T11:55:16.859000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked ACTA1 as ready",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2017-02-20T11:51:28.022000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified ACTA1 as green",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2017-02-20T11:44:29.205000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "marked MYH7 as ready",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2017-02-20T10:59:48.841000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "classified MYH7 as green",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:52:16.892000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added SQSTM1 to panel",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:52:15.935000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed SQSTM1",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:42:41.397000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added HSPB1 to panel",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:42:41.207000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed HSPB1",
"entity_name": "HSPB1",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:38:36.603000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added HSPB8 to panel",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:38:36.413000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed HSPB8",
"entity_name": "HSPB8",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:32:26.115000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added DNM2 to panel",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:32:25.925000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed DNM2",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:27:01.988000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added KLHL9 to panel",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:27:01.807000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed KLHL9",
"entity_name": "KLHL9",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:19:55.407000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added ACTA1 to panel",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2017-02-09T14:19:55.236000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed ACTA1",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2017-02-09T12:28:04.695000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added FHL1 to panel",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2017-02-09T12:28:04.523000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed FHL1",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2017-02-01T11:37:03.784000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added CNBP to panel",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2017-02-01T11:37:03.627000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed CNBP",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2017-02-01T11:33:50.821000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed DMPK",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2017-02-01T11:14:16.116000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added VCP to panel",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2017-02-01T11:14:15.969000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed VCP",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2017-02-01T10:41:20.291000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added NEB to panel",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2017-02-01T10:41:20.133000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed NEB",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2017-02-01T10:32:11.903000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed MATR3",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2017-02-01T10:17:31.858000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added DNAJB6 to panel",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2017-02-01T10:17:31.713000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed DNAJB6",
"entity_name": "DNAJB6",
"entity_type": "gene"
},
{
"created": "2017-02-01T09:59:16.977000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added BAG3 to panel",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2017-02-01T09:59:16.854000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed BAG3",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2017-02-01T09:54:00.938000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added FLNC to panel",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2017-02-01T09:54:00.801000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed FLNC",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2017-02-01T09:47:25.970000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed LDB3",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2017-02-01T09:39:13.491000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed MYOT",
"entity_name": "MYOT",
"entity_type": "gene"
},
{
"created": "2017-01-31T17:24:45.406000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed DES",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2017-01-31T17:13:57.361000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "commented on CRYAB",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2017-01-31T17:11:55.139000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed CRYAB",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2017-01-31T17:00:02.875000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added ANO5 to panel",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2017-01-31T17:00:02.761000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed ANO5",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:55:04.772000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed TIA1",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:49:20.897000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added DYSF to panel",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:49:20.775000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed DYSF",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:42:26.904000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "added GNE to panel",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:42:26.795000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed GNE",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:35:57.326000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed TTN",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2017-01-31T16:29:15.746000Z",
"panel_name": "Distal myopathies",
"panel_id": 235,
"panel_version": null,
"user_name": "Arianna Tucci",
"item_type": "entity",
"text": "reviewed MYH7",
"entity_name": "MYH7",
"entity_type": "gene"
}
]