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[
{
"created": "2024-04-24T16:00:27.076159Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic) to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-07-26T11:03:01.862305Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, OMIM:618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:38:04.784450Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "3.1",
"user_name": "Eleanor Williams",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:37:22.986634Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"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": "2022-03-08T11:39:51.624630Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: GDF2",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:39:33.367798Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to GDF2.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:07:53.378199Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review was removed from gene: RASA1.",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:07:27.174206Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: RASA1",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-03-08T11:06:12.402286Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert Review Green was added to RASA1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2022-01-20T16:57:45.301820Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.11",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: GDF2",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-01-04T14:41:30.953926Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.11",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5\t615506 to Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506; telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-01-04T14:28:43.156822Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "edited their review of gene: GDF2: Added comment: PMID: 34904380 reports a novel GDF2 variant (c.1282T>C, p.C428R) in three members of family displaying hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations. Functional studies support the delaterious effect of the variant in the normal cleavage of BMP9 proprotein, leading to an >2.5-fold lower level of the active mature dimer in the plasma of variant-positive family members in comparison to controls and lower levels of mature BMP9 from in vitro expression studies. There is phenotypic variability between patients carrying the same variant in HHT, and this is pronounced in the three cases reported in PMID: 34904380; although all of the cases in this familiy meet the Curaçao Criteria, the two non-proband cases are regarded as mild.; Changed rating: AMBER",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:57:45.832187Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on publications: 23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4;27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4;25674101 - review from the same authors as PMID:23972370",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2022-01-04T11:57:45.810619Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: GDF2 were set to 23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4; 27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4; 25674101 - review from the same authors as PMID:23972370; 32573726; 32669404; 33834622; https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-09-27T15:14:59.531267Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Penetrance for gene GDF2 was set from to Complete",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-09-27T15:13:47.108863Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GDF2 were set to 23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4; 27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4; 25674101 - review from the same authors as PMID:23972370",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-09-27T15:08:54.440606Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: ; Mode of pathogenicity: None; Publications: 27081547, 32573726, 32669404, 33834622, https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2021-07-15T09:53:58.673199Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900 to Ataxia-telangiectasia, OMIM:208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-10-02T14:50:09.522076Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: RASA1.",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-10-02T14:50:00.440348Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: RASA1 were set to 18446851; 27081547",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-10-02T14:49:31.813223Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: RASA1 as Red List (low evidence)",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-10-02T14:49:31.810038Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).\r\n\r\nGiven the phenotypic overlap with HHT, these patients are likely to benefit from inclusion of RASA1 on a HHT panel, aiding detection rate and accurate diagnosis. Therefore, a rating upgrade from Red to Green should be considered.",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-10-02T14:49:31.791391Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Red List (Low Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-10-02T14:39:25.802731Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27081547, 29891884, 32900839; Phenotypes: Capillary malformation-arteriovenous malformation 1, 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-07-27T04:33:48.612510Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-03-02T16:57:25.006414Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-02T16:56:58.289238Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.2",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-23T17:00:03.227854Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "2.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-23T16:58:54.578391Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.52",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-22T20:19:24.553924Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23972370, 25674101; Phenotypes: OMIM: 615506 \tTelangiectasia, hereditary hemorrhagic, type 5; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2019-09-22T20:09:42.798376Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914, 15031030, 22810475; Phenotypes: OMIM: 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-09-22T20:03:46.493601Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "changed review comment from: On CGGL Royal Brompton HTT panel. Extensive literature evidence; to: On CGGL Royal Brompton HHT panel. Extensive literature evidence",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-09-22T20:03:32.765485Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28687708, 29444212, 30760892; Phenotypes: OMIM: 618196 Capillary malformation-arteriovenous malformation 2, 617300 Lymphatic malformation 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-09-22T19:54:23.205111Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9245986, 7894484, 15879500; Phenotypes: OMIM: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-09-22T19:49:35.158256Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Matthew Edwards",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640225, 9245985, 12700602; Phenotypes: OMIM: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-08-21T10:11:43.495913Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.51",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from Familial and multiple pulmonary arteriovenous malformations to Familial and multiple pulmonary arteriovenous malformations; R186",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-31T12:33:33.068152Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:53:22.699736Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: EPHB4 as Green List (high evidence)",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:53:22.696913Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:53:22.678117Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ephb4 has been classified as Green List (High Evidence).",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:48:13.731797Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:48:01.173441Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Hereditary haemorrhagic telangiectasia panel",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:48:01.154953Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196 to Capillary malformation-arteriovenous malformation 2; 618196; capillary malformation, epistaxis, telangiectasia, cerebral AVM",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:46:42.068801Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added PMID: 30760892 from external reviewer to support upgrading of gene to Green",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:46:42.044777Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: EPHB4 were set to 28687708; 28730721",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-27T10:45:42.019681Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-24T00:35:18.624048Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.44",
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28687708 PMID: 30760892; Phenotypes: capillary malformation, epistaxis, telangiectasia, cerebral AVM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-21T12:26:35.868734Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.44",
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "Classified gene: EPHB4 as Amber List (moderate evidence)",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-21T12:26:35.862715Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.44",
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "Gene: ephb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-06-21T12:26:15.695134Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.43",
"user_name": "Ellen Thomas",
"item_type": "entity",
"text": "gene: EPHB4 was added\ngene: EPHB4 was added to Hereditary haemorrhagic telangiectasia. Sources: Other\nMode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHB4 were set to 28687708; 28730721\nPhenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2; 618196\nPenetrance for gene: EPHB4 were set to Incomplete\nReview for gene: EPHB4 was set to AMBER\nAdded comment: At least one family in 100k recruited under HHT has a mutation in this gene as it's an overlap condition. Consider whether to include with the GLH specialist group for GMS diagnostic analysis. \nSources: Other",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-01-21T12:02:14.906418Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: added phenotypes suggested by expert reviewer",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-21T12:02:14.891109Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1\t187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Pulmonary arteriovenous malformation (HP:0006548); Hepatic arteriovenous malformation (HP:0006574; ); Spinal arteriovenous malformation (HP:0002390)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-21T12:00:27.222925Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added publications suggested by Ian Berry ( GMS Respiratory Specialist Test Group ) that support gene-disease association and rating of this gene to Green.",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-21T12:00:27.211419Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: ENG were set to 7894484; 16155196; 14684682",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-21T11:25:45.379071Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: added phenotype and MIM",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-21T11:25:45.364131Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR2 were changed from to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-21T11:24:18.158928Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-21T11:24:01.150527Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: BMPR2: Changed rating: AMBER",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-21T11:23:52.877288Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BMPR2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : downgraded from Green to Amber (ref: PMID:18792970)",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-21T11:21:58.873823Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: GDF2: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : classified amber on basis of 3 cases (see review); Changed rating: AMBER",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:29:42.782864Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.37",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30244195; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:20:29.399066Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.37",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Classified gene: BMPR2 as Amber List (moderate evidence)",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:20:29.392567Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.37",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T21:19:58.060299Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.36",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID:18792970; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-01-18T17:22:47.588664Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.36",
"user_name": "Ian Berry",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-01-18T12:39:21.558567Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: BMPR2 were set to ",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:26:43.704712Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BMPR2.",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:26:43.650012Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GDF2.",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:26:43.589652Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SMAD4.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:26:43.530825Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ENG.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:26:43.432147Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ACVRL1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:07:24.114287Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: BMPR2 as Red List (low evidence)",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2018-12-06T13:07:24.108557Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Red List (Low Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2018-12-06T12:36:33.578959Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2018-12-06T12:36:33.562125Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2018-12-06T12:36:33.545694Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2018-12-06T12:36:33.527012Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2018-12-06T12:36:33.509462Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2018-12-06T12:35:48.207476Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to Hereditary haemorrhagic telangiectasia. Sources: \nMode of inheritance for gene: BMPR2 was set to ",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2018-11-16T14:48:22.613420Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": "1.30",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to Rare Disease 100K; GMS Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2017-08-04T08:12:32.866000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on MRE11A",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:25:07.161000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified TEK as red",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:24:57.115000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added TEK to panel",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:24:56.965000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed TEK",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:23:38.030000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified PIK3CA as red",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:23:24.692000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added PIK3CA to panel",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:23:24.552000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed PIK3CA",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:20:51.294000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified KRIT1 as red",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:20:42.768000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added KRIT1 to panel",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:20:42.641000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed KRIT1",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:19:06.119000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified FOXF1 as red",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:18:56.335000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "added FOXF1 to panel",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2016-12-14T12:18:56.219000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "reviewed FOXF1",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2016-12-14T11:30:17.378000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified GDF2 as amber",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-12-14T10:08:38.353000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "classified GDF2 as amber",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-12-14T10:08:38.352000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Ellen McDonagh",
"item_type": "entity",
"text": "commented on GDF2",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-12-13T14:08:04.415000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2016-12-13T14:03:08.490000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified RASA1 as red",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2016-12-12T16:51:56.947000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "promoted panel to version 1",
"entity_name": null,
"entity_type": null
},
{
"created": "2016-12-12T16:50:55.760000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2016-12-12T16:47:18.086000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked SOX18 as ready",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2016-12-12T16:47:18.085000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on SOX18",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2016-12-12T16:41:32.977000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2016-12-12T16:23:55.142000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on RASA1",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2016-12-12T15:47:13.994000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked GDF2 as ready",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-12-12T14:49:14.821000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on GDF2",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-12-12T12:58:08.431000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2016-12-12T12:52:04.359000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ATR",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2016-12-12T12:01:19.517000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified GDF2 as red",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:48:53.984000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:44:44.074000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on SMAD4",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:39:59.085000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:39:14.965000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ENG",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:35:46.589000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified ATM as red",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:34:21.384000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ATM",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:30:55.048000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:30:55.047000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on ACVRL1",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:23:13.652000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "marked MRE11A as ready",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:17:34.180000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "classified MRE11A as red",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-12-12T11:14:48.911000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on MRE11A",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-12-09T16:01:32.346000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on MRE11A",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:51:15.924000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed GDF2",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:22:31.157000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed SOX18",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:18:26.228000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed RASA1",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:15:07.362000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed MRE11A",
"entity_name": "MRE11A",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:13:54.746000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed ATR",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:13:10.304000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed ATM",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2016-11-13T22:00:48.994000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed SMAD4",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2016-11-13T21:55:20.140000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "edited their review of ENG",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2016-11-13T21:36:33.857000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed ENG",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2016-11-13T21:18:00.413000Z",
"panel_name": "Hereditary haemorrhagic telangiectasia",
"panel_id": 123,
"panel_version": null,
"user_name": "Claire Shovlin",
"item_type": "entity",
"text": "reviewed ACVRL1",
"entity_name": "ACVRL1",
"entity_type": "gene"
}
]