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[
{
"created": "2024-04-24T16:33:46.340059Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome to Roifman syndrome, OMIM:616651",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2024-04-16T14:19:01.328224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GP6 were changed from 614201 Bleeding disorder, platelet-type, 11 to Bleeding disorder, platelet-type, 11, OMIM:614201",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2024-03-12T16:44:04.930735Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4 to Thrombocytopenia 4, OMIM:612004",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2023-11-07T13:18:04.704558Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: BLOC1S5.\nTag Q4_23_NHS_review tag was added to gene: BLOC1S5.",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2023-11-07T13:17:35.928647Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: BLOC1S5",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2023-11-07T13:11:06.146094Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome to Hermansky–Pudlak syndrome 11, OMIM:619172; Hermansky-Pudlak syndrome 11, MONDO:0030903",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2023-11-07T13:09:59.851657Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: BLOC1S5 were set to 32565547",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2023-10-17T13:59:01.369878Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_NHS_review tag was added to gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-10-17T13:32:12.507081Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q4_23_promote_green tag was added to gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-10-17T13:31:58.899286Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: ADAMTS13 as Amber List (moderate evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-10-17T13:31:58.891667Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.3",
"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": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-10-17T13:31:58.866298Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.3",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-10-17T13:29:53.235181Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.2",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-08-15T15:39:32.524902Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.2",
"user_name": "Hannah Knight",
"item_type": "entity",
"text": "reviewed gene: BLOC1S5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34685610, 34058075; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2023-05-17T12:49:43.962696Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: APOLD1",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2023-05-12T15:28:08.993157Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.2",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: APOLD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PIMD: 35638551; Phenotypes: Bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2023-05-03T14:29:35.866632Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.2",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS13: Added comment: Consensus opinion from the Central & South and South West haemostasis genomics MDT is that ADAMTS13 should be classified as a green gene on the R90 (bleeding and platelet disorders) panel. Laboratory findings in patients with congenital TTP include thrombocytopenia and this is not always readily distinguishable from other causes of thrombocytopenia.; Changed phenotypes to: 274150 Thrombotic thrombocytopenic purpura, hereditary; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2023-04-13T15:58:41.776448Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MECOM were changed from 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:39:26.303823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.1",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:38:51.495310Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "3.0",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-03T07:25:03.740494Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: TLN1 was added\ngene: TLN1 was added to Bleeding and platelet disorders. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TLN1 were set to 35861643\nPhenotypes for gene: TLN1 were set to thrombocytopenia, MONDO:0002049\nReview for gene: TLN1 was set to RED\nAdded comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient generally had a platelet count of <20 000/mcL, but without significant bleeding. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. \nSources: Literature",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:09:11.485707Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.\r\n\r\nNote from GMS reviewers: As with most genes encoding coagulation factors, both monoallelic and biallelic F7 variants can be clinically significant.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:08:00.154440Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green, and the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green, and the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'. \r\n\r\nGMS reviewers note that defects in F12 are associated with prolonged APTT; therefore, this should remain a green gene in the R90 panel. It should be left on the panel as may explain prolonged aPTT if not bleeding, so potentially still useful in the diagnostic pathway. As with most genes encoding coagulation factors, both monoallelic and biallelic F7 variants can be clinically significant.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:05:50.722368Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'. In addition, GMS reviewers note that there is no compelling evidence to associate with R90-syndromic gene.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:04:13.600727Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_MOI was removed from gene: F7.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:03:24.102154Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q2_22_rating was removed from gene: F12.\nTag Q2_22_MOI was removed from gene: F12.\nTag Q2_22_phenotype was removed from gene: F12.\nTag Q2_22_expert_review was removed from gene: F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:02:26.995416Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-02-01T08:01:20.647340Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Tag Q3_22_MOI was removed from gene: COL3A1.\nTag Q3_22_expert_review was removed from gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2023-02-01T07:59:00.733315Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: F7",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2023-02-01T07:59:00.716621Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2023-02-01T07:59:00.695616Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-02-01T07:59:00.679800Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.3",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "commented on gene: COL3A1",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2023-02-01T07:58:47.322155Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.2",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:30:54.605299Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.1",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:30:20.903370Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "2.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-11T10:47:59.888786Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TBXA2R were changed from 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO to {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:19.488082Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.44",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: F12",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:35:04.343572Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.44",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q2_22_rating tag was added to gene: F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-09-28T22:11:23.525928Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.44",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be considered for changing to Both mono and biallelic following GMS review.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-09-28T22:11:23.500367Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.44",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-09-28T22:10:50.520240Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.43",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_22_MOI tag was added to gene: COL3A1.\nTag Q3_22_expert_review tag was added to gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-07-15T14:26:14.938947Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.43",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "gene: APOLD1 was added\ngene: APOLD1 was added to Bleeding and platelet disorders. Sources: Literature\nMode of inheritance for gene: APOLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: APOLD1 were set to 35638551\nPhenotypes for gene: APOLD1 were set to inherited bleeding disorder\nReview for gene: APOLD1 was set to RED\nAdded comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. One heterozygous variant (NM_001130415; c.145_146delinsTA; p.R49*) has been reported to segregate with inherited bleeding in three sisters. \nSources: Literature",
"entity_name": "APOLD1",
"entity_type": "gene"
},
{
"created": "2022-06-30T16:14:59.288417Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-06-30T15:22:11.858432Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-06-30T15:18:07.778787Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.42",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "commented on gene: GBA",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-06-07T15:43:34.867646Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: F13B were changed from 613235 Factor XIII deficiency to Factor XIIIB deficiency, OMIM:613235",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2022-06-07T15:11:19.559526Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: F13A1 were changed from 613225 Factor XIII deficiency to Factor XIIIA deficiency, OMIM:613225",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T14:04:09.110613Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: F7.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:41:07.617936Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2022-05-08T17:36:19.112978Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.40",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag gene-checked tag was added to gene: TPM4.",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:57:15.881818Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: GP1BB were set to 24934643; 9616133; 21357716",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-20T13:37:27.637431Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BB were changed from BSS; 231200 BERNARD-SOULIER SYNDROME; 231200BERNARD-SOULIER SYNDROME to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2022-04-12T11:15:50.978603Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from 604498 Thrombocytopenia, congenital amegakaryocytic to Thrombocytopenia, congenital amegakaryocytic, OMIM:604498",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-04-04T09:28:52.630185Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: F12 were changed from 234000 Factor XII deficiency; 234000 Factor XII deficiency, hereditary Angioedema type III; 610618 Hereditary Angioedema type III to Angioedema, hereditary, type III, OMIM:610618; Factor XII deficiency, OMIM:234000",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-04T09:28:34.984835Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_22_MOI tag was added to gene: F12.\nTag Q2_22_phenotype tag was added to gene: F12.\nTag Q2_22_expert_review tag was added to gene: F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-04T09:28:09.197671Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only or should be demoted on this panel altogether.\r\n\r\nMonoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.; to: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only or whether this gene should be demoted on this panel altogether.\r\n\r\nMonoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-04-04T09:27:30.490400Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only.\r\n\r\nMonoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.; to: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only or should be demoted on this panel altogether.\r\n\r\nMonoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-03-28T11:37:44.244389Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TBXAS1 were changed from 231095 Ghosal hematodiaphyseal syndrome; 614158 ?Thromboxane synthase deficiency; 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome to Ghosal hematodiaphyseal syndrome, OMIM:231095; ?Thromboxane synthase deficiency, OMIM:614158; Bleeding disorder, platelet-type, 14, OMIM:614158",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T15:55:43.744098Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: F7",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2022-03-21T14:32:45.750605Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: F12",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:50:00.168698Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_NHS_review was removed from gene: TNXB.\nTag Q3_21_expert_review was removed from gene: TNXB.",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:45.273630Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_NHS_review was removed from gene: COL3A1.\nTag Q3_21_expert_review was removed from gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:49:12.100173Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: ADAMTS13.\nTag Q2_21_NHS_review was removed from gene: ADAMTS13.\nTag Q2_21_MOI was removed from gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:24.830207Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TNXB: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:24.814382Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: COL3A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that this gene should be green.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:24.794415Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: ADAMTS13: Added comment: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: RED",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:13.623957Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to TNXB.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:13.483338Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to COL3A1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2022-03-08T10:48:13.341849Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Red was added to ADAMTS13.\nMode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:45:08.905537Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:44:43.559498Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: CHST14.",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:43:55.703587Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: NBEA.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:43:26.367533Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:42:57.797160Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PRKACG.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:42:48.621321Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that PRKACG should be Red.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:42:00.424346Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: IKZF5.",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:43.100966Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review was removed from gene: PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.937625Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: FLNA: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote FLNA to green.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.921745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: CHST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that there is enough evidence to promote CHST14 to green.",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.902073Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NBEA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.878038Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: HOXA11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.856694Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PRKACG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.836765Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: IKZF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:20.826027Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PTGS1",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:12.286684Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to FLNA.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:12.106372Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to CHST14.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:11.916537Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Red was added to NBEA.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:11.732954Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Amber was added to HOXA11.\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:11.554126Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Red was added to PRKACG.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:11.361861Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to IKZF5.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2022-03-04T09:41:11.173857Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PTGS1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2021-08-02T07:42:26.414584Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: VKORC1 were changed from 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance to Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473; Warfarin resistance, OMIM:122700",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2021-07-15T15:58:05.852621Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2021-07-15T15:56:34.963363Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: COL3A1: Correspondence from Dr Neeti Ghali & Dr Fleur van Dijk, Consultant Clinical Geneticists, EDS National Diagnostic Service (15/07/2021) indicating that inclusion of COL3A1 as Green on this panel would be beneficial as they receive referrals from haematologists asking to consider this form of vascular EDS, associated with significant bruising and haematoma formation.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-07-15T15:39:27.175910Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_NHS_review tag was added to gene: TNXB.\nTag Q3_21_expert_review tag was added to gene: TNXB.",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2021-07-15T15:39:14.566779Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_expert_review was removed from gene: COL3A1.\nTag Q3_21_NHS_review tag was added to gene: COL3A1.\nTag Q3_21_expert_review tag was added to gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-07-15T15:36:39.211736Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2021-07-12T14:15:01.865690Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to 29449050; 21960593; 32299270",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T14:13:59.571442Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.29",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Changed MOI from 'X-LINKED... biallelic mutations in females' to 'X-LINKED... monoallelic mutations in females may cause disease'. \r\n\r\nFLNA-related periventricular nodular heterotopia (MIM# 300049) can be associated with macrothrombocytopenia and a bleeding tendency in some cases (PMID: 16684786; 21960593; 29449050; 32299270). Affected females with heterozygous variants in FLNA have been identified indicating XLD inheritance.\r\n\r\nThe association with macrothrombocytopenia has been supported by in vitro assays and animal model (PMID: 21652675; 21960593; 30602618; 31471375)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T14:13:59.537945Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.29",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T13:30:48.011635Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.28",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from (NO OMIM NUMBER); Macrothrombocytopenia to Heterotopia, periventricular, 1, OMIM:300049; Macrothrombocytopenia",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-05T09:18:22.547917Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-07-05T09:18:14.187807Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-07-05T09:05:42.424757Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from (NO OMIM NUMBER); AD thrombocytopenia to thrombocytopenia, MONDO:0002049 (AD)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:13:58.998202Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: This gene will be flagged for review at the next GMS panel update to highlight the recent review by Kate Downes (CUH) indicating that the phenotype associated with ADAMTS13 (MIM# 274150) may be out of scope for this panel (tagged Q2_21_rating); to: This gene will be flagged for review at the next GMS panel update to highlight the recent review by Kate Downes (CUH) indicating that the phenotype associated with ADAMTS13 (MIM# 274150) may be out of scope for this panel (tagged Q2_21_expert_review)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:13:44.053127Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating was removed from gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:13:21.388098Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_expert_review tag was added to gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-06-30T11:09:19.634385Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: ADAMTS13: This gene will be flagged for review at the next GMS panel update to highlight the recent review by Kate Downes (CUH) indicating that the phenotype associated with ADAMTS13 (MIM# 274150) may be out of scope for this panel (tagged Q2_21_rating)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-06-30T10:59:39.560333Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_rating tag was added to gene: ADAMTS13.\nTag Q2_21_NHS_review tag was added to gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-06-14T14:17:08.705947Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Kate Downes",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-04-06T10:23:03.857742Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ARPC1B were changed from 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-31T13:28:07.785661Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: MAST2 as Red List (low evidence)",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-31T13:28:07.780604Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Red as only a single family reported at this time (PMID:33465109)",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-31T13:28:07.741344Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: mast2 has been classified as Red List (Low Evidence).",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-31T13:27:23.745425Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MAST2 were changed from Thrombophilia; venous thrombosis to Venous thromboembolism; Thrombophilia",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:53:21.150161Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ADAMTS13 were set to 15009458; 11586351; 12753286",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:48:35.482143Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.; to: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:48:18.797511Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q2_21_MOI tag was added to gene: ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:48:11.060670Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:48:11.039771Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-23T11:41:15.876486Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2021-03-05T06:25:26.371482Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAST2 was added\ngene: MAST2 was added to Bleeding and platelet disorders. Sources: Literature\nMode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST2 were set to 33465109\nPhenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis\nReview for gene: MAST2 was set to RED\nAdded comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.\r\n\r\nRNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets. \nSources: Literature",
"entity_name": "MAST2",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:50:11.722278Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PTGS1",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:48:54.451546Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2021-02-01T10:27:45.380593Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PTGS1 were set to 11442478; 27629384; 8562397; 28748566; 6103258",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2021-01-31T17:02:24.169910Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.19",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "edited their review of gene: PTGS1: Added comment: There now appears to be sufficient evidence for green rating (PMID: 32299908;24008976) for biallelic inheritance and there is also one report of monoallelic inheritance (PMID: 33326144).; Changed publications: PMID: 32299908, 24008976, 33326144, 32584621; Changed phenotypes: Platelet dysfunction and bleeding; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2021-01-31T12:47:36.532695Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.19",
"user_name": "Kate Downes",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25061177; Phenotypes: Macrothrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:21:25.704161Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to 29449050; 21960593",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:21:15.974622Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:21:03.465809Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FLNA as Amber List (moderate evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:21:03.457777Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Gene associated with multiple phenotypes which do not include haematological abnormalities. However, thrombocytopenia with or without platelet dysfunction has been reported in at least 11 individuals from 10 pedigrees with a total of 10 different FLNA variants. As this reaches threshold for inclusion as diagnostic-grade, this gene will be flagged for review at the next GMS panel update (added for-review tag)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:21:03.360932Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: flna has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:01:39.619471Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: NBEA as Green List (high evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:01:39.614044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association and recurrence of heterozygous variants in control populations. Will be flagged for review at the next GMS panel update (added 'for-review' tag).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-14T11:01:39.571887Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:59:09.799259Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: NBEA.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:48:38.086865Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACG were changed from 616176BLEEDING DISORDER, PLATELET-TYPE, 19; 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 to ?Bleeding disorder, platelet-type, 19, OMIM:616176; Platelet-type bleeding disorder 19, MONDO:0014518",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:47:43.522582Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: PRKACG were set to 25061177",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:47:25.456373Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: PRKACG as Green List (high evidence)",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:47:25.448347Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association. Based on literature, only sufficient for an Amber/Red rating. Will be flagged for review at the next GMS panel update (added 'for-review' tag).",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:47:25.388732Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: prkacg has been classified as Green List (High Evidence).",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:44:38.969036Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: PRKACG.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:31:52.837254Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:31:47.509079Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Green List (high evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:31:47.505935Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association. Will be flagged for review at the next GMS panel update (added 'for-review' tag)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2021-01-14T10:31:47.476994Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Green List (High Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:35:56.905514Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: BLOC1S5 as Amber List (moderate evidence)",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:35:56.900301Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two unrelated patients with this mild form of HPS. Rating Amber awaiting further publications with additional cases or clinical evidence supporting this gene-disease association.",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:35:56.875123Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: bloc1s5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:22:03.678658Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: BLOC1S5: Rating: ; Mode of pathogenicity: None; Publications: 32565547; Phenotypes: Hermansky–Pudlak syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:02:53.686360Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLOC1S3 were changed from 614077 Hermansky-Pudlak syndrome 8 to Hermansky-Pudlak syndrome 8, 614077",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:02:42.952137Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on publications: Added publication to support this gene-disease association.",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2020-10-07T11:02:42.908229Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: BLOC1S3 were set to 16385460; 22709368",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2020-10-05T09:11:19.840601Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Bleeding and platelet disorders. Sources: Literature\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome\nReview for gene: BLOC1S5 was set to GREEN\ngene: BLOC1S5 was marked as current diagnostic\nAdded comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1, quantitative PCR analysis confirmatory in patient 2).\r\n\r\nFunctional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.\r\n\r\nPathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively. \nSources: Literature",
"entity_name": "BLOC1S5",
"entity_type": "gene"
},
{
"created": "2020-09-17T11:49:16.126038Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: IKZF5 were set to 1217188",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-09-17T11:48:50.154002Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least 7 unrelated families with thrombocytopenia associated with different missense variants in the IKZF5 gene. ",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-09-17T11:29:45.399393Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from 130050 Ehlers-Danlos syndrome, vascular type to Ehlers-Danlos syndrome, vascular type, 130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-09-17T11:28:51.830592Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050841, 27259332, 31391389, 25940258, 20720362; Phenotypes: Ehlers-Danlos syndrome, vascular type, 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-09-17T10:49:51.392796Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CHST14 were changed from 601776 Ehlers-Danlos syndrome, musculocontractural type 1 to Ehlers-Danlos syndrome, musculocontractural type 1, 601776",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-09-17T10:49:34.983826Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: CHST14.",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-09-17T10:49:16.670102Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004762, 26373698, 26646600; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-09-14T00:10:10.430463Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2020-08-28T14:27:49.537961Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: IKZF5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31217188, 32419556; Phenotypes: Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528).; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-08-16T07:54:20.949605Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 25564403, 32634856; Phenotypes: Bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T03:38:05.854881Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32299908; Phenotypes: Platelet dysfunction, bleeding; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T03:26:18.561103Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: RED; Mode of pathogenicity: None; Publications: 25061177, 30819905; Phenotypes: Bleeding disorder, platelet-type, 19, MIM# 616176; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2020-08-15T08:28:19.443499Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBEA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2020-08-15T03:54:54.604656Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KNG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2020-08-15T03:53:05.312853Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fletcher factor (prekallikrein) deficiency, MIM# 612423; Mode of inheritance: None",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T04:38:54.612718Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25516138, 25876182; Phenotypes: Thrombocytopenia 3, MIM# 273900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2020-08-12T04:18:35.604440Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32299270; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-12T03:50:10.761478Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XII deficiency, MIM# 234000; Mode of inheritance: None",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2020-08-11T15:03:22.988609Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: IKZF5 as Amber List (moderate evidence)",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-08-11T15:03:22.983797Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"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": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-08-11T15:03:22.943273Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ikzf5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-08-11T15:02:59.355451Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag for-review tag was added to gene: IKZF5.",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:56:58.695135Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: AP3D1 as Green List (high evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:56:58.688130Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Green rating based on expert list/supporting information from the NIHRBR-RD BRIDGE project",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-08-11T14:56:58.659917Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Green List (High Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-08-11T08:53:55.592475Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T08:51:18.378084Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-08-11T08:49:00.581300Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2020-08-11T04:32:19.715865Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: RED; Mode of pathogenicity: None; Publications: 30472485, 26744459; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050, Oculocutaneous albinism, Severe neutropaenia, Recurrent infections, Seizures, Hearing loss, Neurodevelopmental delay; Mode of inheritance: None",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-08-04T16:20:18.625478Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.4",
"user_name": "Kate Downes",
"item_type": "entity",
"text": "changed review comment from: Lentaigne C, et al., 2019 details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees. \r\nMode of pathogenicity is unknown. \r\nSources: Expert Review, Literature; to: Lentaigne C, et al., 2019 (PMID - 31217188) details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees. \r\nMode of pathogenicity is unknown. \r\nSources: Expert Review, Literature",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-08-04T16:18:59.556139Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.4",
"user_name": "Kate Downes",
"item_type": "entity",
"text": "changed review comment from: Lentaigne C, et al., 2019 details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees. \r\nMode of pathogenicity is unknown. \nSources: Expert Review, Literature; to: Lentaigne C, et al., 2019 details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees. \r\nMode of pathogenicity is unknown. \r\nSources: Expert Review, Literature",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-03-03T17:33:24.400458Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-03T17:33:13.109801Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.2",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-29T09:48:07.942288Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: IKZF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2020-01-25T12:51:27.911004Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.0",
"user_name": "Kate Downes",
"item_type": "entity",
"text": "gene: IKZF5 was added\ngene: IKZF5 was added to Bleeding and platelet disorders. Sources: Expert Review,Literature\nMode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IKZF5 were set to 1217188\nPhenotypes for gene: IKZF5 were set to Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528).\nPenetrance for gene: IKZF5 were set to unknown\nMode of pathogenicity for gene: IKZF5 was set to Other\nReview for gene: IKZF5 was set to GREEN\nAdded comment: Lentaigne C, et al., 2019 details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees. \r\nMode of pathogenicity is unknown. \nSources: Expert Review, Literature",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2019-11-05T12:06:19.076569Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-11-05T12:02:39.196693Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.79",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-09-23T11:07:54.893854Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Amber List (moderate evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-09-23T11:07:54.889093Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: After further discussion via email the GMS Haematology Specialist Test Group decided to rate PTPN11 Amber.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-09-23T11:07:54.862582Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.78",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-09-23T11:07:36.437151Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: PTPN11: Added comment: During the GMS Haematology Specialist Test Group webex call 8th March 2019 it was agreed to demote PRPN11 from Green to Red based on the syndromic phenotype (Noonan syndrome) would not present as bleeding/thrombocytopenia without other obvious symptoms. \r\n\r\nSubsequent to this, a detailed review was recieved from Andrew Mumford (16th September 2019) : The clinical utility of the panel is to aid diagnosis of people presenting with bleeding or platelet disorders, where laboratory phenotype testing is insufficient for diagnosis. Noonan syndrome is about twice as common as haemophilia A, and can definitely present with coagulopathy with other features incompletely expressed of not recognised. These are all arguments to include PTPN11. Discovering Noonan syndrome is clinically important because of potential in interventions for other occult clinical features , like cardiac disease. However, we also have to be pragmatic here because using the same argument, there are dozens genes for other syndromic disorders which may present as a first contact in the bleeding disorders clinic (eg the EDS genes, CDG genes). We obviously shouldn’t be looking at all of these. The sensible option to me is to place carefully selected genes in this class ( i. associated with ‘common’ disorders and ii. in which other syndromic features may be less obvious to non-geneticists). \r\n\r\nAfter this review, the gene was discussed again, and Carl Fratter and other members of the Haematology Specialist Test Group (Mandy Nesbit, Steve Keeny, Nicola Curry, Mike Mitchell agreed to change PTPN11 from Red to Amber rating, as this would then be in line with the Amber EDS genes on this panel.; Changed rating: AMBER",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:36:01.933904Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL5A2: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:35:49.101630Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL5A1: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:35:32.176673Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CHST14: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:35:20.248268Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL3A1: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:34:48.157508Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL1A1: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:32:46.315132Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14) \nSources: Expert Review; to: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further with Haematology Test Group as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14) \r\nSources: Expert Review",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:17:36.803196Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:00:35.541732Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.77",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: TNXB were set to ",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:00:05.953672Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TNXB as Amber List (moderate evidence)",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T11:00:05.938926Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.76",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tnxb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T10:59:44.924671Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TNXB as No list",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T10:59:44.914374Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.75",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: tnxb has been removed from the panel.",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T10:59:23.525664Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.74",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Bleeding and platelet disorders. Sources: Expert Review\nMode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; significant bruising/haematomas\nReview for gene: TNXB was set to AMBER\nAdded comment: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14) \nSources: Expert Review",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-08-22T10:45:01.249762Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.73",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R90",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-22T10:58:42.932291Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: GLH reviews since webex on 8th March 2019: \r\nYNEGLH- Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED\r\nWWMGLH- SMAD 4 IS 1 OF THE GENES FOR HHT AMBER\r\nNWGLH- categorise as AMBER \r\nLSGLH – no association with bleeding phenotype – RED; to: GLH reviews since webex on 8th March 2019:\r\nYNEGLH: Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED\r\nWWMGLH: SMAD 4 IS 1 OF THE GENES FOR HHT AMBER\r\nNWGLH: categorise as AMBER\r\nLSGLH: no association with bleeding phenotype – RED",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:58:00.494546Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SMAD4 as Amber List (moderate evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:58:00.491356Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Upgraded rating from Red to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:58:00.472159Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.72",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:57:17.690612Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SMAD4: GLH reviews since webex on 8th March 2019: \r\nYNEGLH- Associated with a few syndromes all with cardiac problems- bleeding not mentioned in omim occasionally anaemia- RED\r\nWWMGLH- SMAD 4 IS 1 OF THE GENES FOR HHT AMBER\r\nNWGLH- categorise as AMBER \r\nLSGLH – no association with bleeding phenotype – RED",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:48:32.098417Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RNU4ATAC as Amber List (moderate evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:48:32.093968Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Downgraded rating from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:48:32.067232Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.71",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rnu4atac has been classified as Amber List (Moderate Evidence).",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:45:47.513823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "changed review comment from: GLH reviews since webex on 8th March 2019: \r\nYNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED\r\nWWMGLH- IT IS ON THE ISTH GENE LIST GREEN WWMGLH\r\nNWGLH – this target is associated with pronounced syndromes so I would not include on R90\r\nLSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.; to: GLH reviews since webex on 8th March 2019: \r\nYNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED\r\nWWMGLH- IT IS ON THE ISTH GENE LIST GREEN\r\nNWGLH – this target is associated with pronounced syndromes so I would not include on R90\r\nLSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:45:34.349952Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RNU4ATAC: GLH reviews since webex on 8th March 2019: \r\nYNEGLH- RNU4ATAC seems very syndromic and no bleeding association in HGMD- all changes associated with disease are in 5’ UTR- RED\r\nWWMGLH- IT IS ON THE ISTH GENE LIST GREEN WWMGLH\r\nNWGLH – this target is associated with pronounced syndromes so I would not include on R90\r\nLSGLH- I’d agree that that gene is unlikely to present with isolated bleeding symptoms. Don’t think it should be included as Green. Happy for it to be AMBER or RED.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:37:37.706372Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL5A2: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:37:12.251228Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL5A1: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:36:39.459809Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL1A1: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:00:58.917170Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.70",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Publications for gene: COL3A1 were set to 22019127; 25758994; 22143279",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-07-22T10:00:44.361552Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: COL3A1: Discussed further with the GMS Haematology Specialist Test Group at workshop 2nd July 2019, it was agreed that Carl Fratter would review the evidence on COL3A1 by contacting their Thrombogenomics team to ask if they are able to provide any information on their experience, as they have included these genes in their panel. Gene rating to be confirmed when group has this information. \r\n\r\nCarl Fratter has since highlighted a report (PMID: 30690834) with a family with COL3A1 who presented with bruising (prepositus/family 3), noting it’s complicated by the fact that they are reporting it because of a VWF variant of uncertain significance (which is quite common in the general population, and so perhaps not likely to be very significant), but does appear to be an example of COL3A1 related EDS which was not obvious clinically and patient was referred for easy bruising before EDS was diagnosed. Awaiting consensus from the GMS Haematology Specialist Test Group regarding this",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-07-22T09:56:36.765684Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.69",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CHST14: Discussed further with the GMS Haematology Specialist Test Group at workshop 2nd July 2019, it was agreed that Carl Fratter would review the evidence on CHST14 by contacting their Thrombogenomics team to ask if they are able to provide any information on their experience, as they have included these genes in their panel. Gene rating to be confirmed when group has this information.",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-07-16T13:45:09.204618Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.68",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "changed review comment from: Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.; to: Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-07-16T13:44:22.382886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.68",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 130050 Ehlers-Danlos syndrome, vascular type, 618343 Polymicrogyria with or without vascular-type EDS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-07-16T13:41:30.510117Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.68",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 601776 Ehlers-Danlos syndrome, musculocontractural type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:53.434350Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: UNC13D as Amber List (moderate evidence)",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:53.431860Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:53.409962Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.67",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: unc13d has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:15.841177Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.66",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM7 were changed from macrothrombocytopenia; (NO OMIM NUMBER OR DISEASE NAME to macrothrombocytopenia",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:05.389801Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Amber List (moderate evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:05.386066Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:02:05.364231Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.65",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:01:10.704408Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: STX11 as Red List (low evidence)",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:01:10.702204Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc). Also considered Steve Keeney Red rating.",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-05-28T16:01:10.680371Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.64",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: stx11 has been classified as Red List (Low Evidence).",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:53:57.982687Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.63",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome to hereditary hemorrhagic telangiectasia syndrome",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:53:50.150715Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SMAD4 as Red List (low evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:53:50.148201Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Red (webex 8.03.19 WWMGLH comments v1.doc).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:53:50.131561Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.62",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Red List (Low Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:44:52.970282Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RGS2 as Amber List (moderate evidence)",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:44:52.966886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:44:52.948951Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.61",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rgs2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:42:57.527938Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RGS2 as Green List (high evidence)",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:42:57.524804Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:42:57.510807Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.60",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rgs2 has been classified as Green List (High Evidence).",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:42:00.109707Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: P2RX1 as Amber List (moderate evidence)",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:42:00.107407Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc)",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:42:00.092858Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.59",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: p2rx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:36:49.129666Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: MKL1 as Amber List (moderate evidence)",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:36:49.126561Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc).",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:36:49.112202Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.58",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: mkl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:33:40.268224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GALE as Amber List (moderate evidence)",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:33:40.265712Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Demoted from Green to Amber. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Amber (webex 8.03.19 WWMGLH comments v1.doc) comment",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-05-28T15:33:40.242882Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.57",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gale has been classified as Amber List (Moderate Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.664410Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: UNC13D: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.651249Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TRPM7: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.637360Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STX11: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.622673Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SMAD4: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.608825Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINE1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.594206Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RNU4ATAC: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.580833Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RGS2: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.566701Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: P2RX1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.551804Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MKL1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.536119Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.517955Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GALE: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-05-28T14:08:10.501706Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.56",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Green",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:16:36.782123Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to SERPINE1.",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:16:35.931465Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.55",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Wessex and West Midlands GLH was added to F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:13:14.898752Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.54",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Phenotypes for gene: GALE were changed from (NO OMIM OR DISEASE); Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) to Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.226386Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.214868Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.200129Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.187964Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.176219Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.163646Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.148871Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: RGS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.135219Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: P2RX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.123185Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.109366Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.096266Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-05-28T13:11:42.083116Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.53",
"user_name": "PATRICIA BIGNELL",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-05-24T18:39:53.418315Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: COL3A1: Changed rating: AMBER",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-05-24T18:20:22.462484Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: PTPN11: Changed rating: RED",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-05-24T18:01:49.658482Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: COL3A1: Changed rating: RED",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:42:43.975123Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: THBD: Changed rating: GREEN",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:42:30.045840Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: SRC: Changed rating: GREEN",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:42:07.069459Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: RBM8A: Changed rating: GREEN",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:41:24.683186Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: PLA2G4A: Changed rating: GREEN",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:41:10.816113Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: NBEA: Changed rating: GREEN",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:40:48.328483Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ITGA2: Changed rating: RED",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:40:35.162248Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: HOXA11: Changed rating: GREEN",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:40:21.402132Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: GNE: Changed rating: GREEN",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:40:08.697151Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ETV6: Changed rating: GREEN",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:39:46.385768Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: DIAPH1: Changed rating: GREEN",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:39:32.400817Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CDC42: Changed rating: GREEN",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:39:18.061518Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ACTB: Changed rating: GREEN",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-05-24T17:39:00.889629Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ABCG8: Changed rating: GREEN",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:04:39.176089Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Red List (low evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:04:39.173202Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red. This gene is associated to Noonan syndrome",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:04:39.154943Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.52",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:02:37.935338Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: COL5A2 as Amber List (moderate evidence)",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:02:37.932435Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:02:37.916750Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.51",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: col5a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:02:14.687860Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: COL5A1 as Amber List (moderate evidence)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:02:14.685191Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:02:14.668582Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.50",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: col5a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:01:52.460851Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: COL3A1 as Amber List (moderate evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:01:52.458162Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:01:52.442108Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.49",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:01:18.259267Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: COL1A1 as Amber List (moderate evidence)",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:01:18.255902Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019; Sheffield would rate this gene as Red, Oxford would rate this gene as Green. Currently rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T16:01:18.232013Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.48",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: col1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:58:27.184612Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: CHST14 as Amber List (moderate evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:58:27.181224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: Rated Amber and marked for further discussion as to inclusion of EDS genes on this panel.",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:58:27.162132Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.47",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:41:43.919741Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THBD: Use with caution when reporting variants outside the transmembrane domain",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:56.182171Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: THBD as Green List (high evidence)",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:56.179722Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:56.165710Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.46",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: thbd has been classified as Green List (High Evidence).",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:35.045404Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SRC as Green List (high evidence)",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:35.043196Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:35.029192Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.45",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: src has been classified as Green List (High Evidence).",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:05.288732Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SLC45A2 as Amber List (moderate evidence)",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:05.285503Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:40:05.266677Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.44",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: slc45a2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:39:29.464182Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: RBM8A as Green List (high evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:39:29.460999Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:39:29.444216Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.43",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Green List (High Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:38:39.775896Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PTPRJ as Amber List (moderate evidence)",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:38:39.773283Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:38:39.758695Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.42",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ptprj has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:37:53.791986Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PTGS1 as Amber List (moderate evidence)",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:37:53.789396Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:37:53.775585Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.41",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ptgs1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:37:27.384910Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: PLA2G4A as Green List (high evidence)",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:37:27.382067Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:37:27.366408Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.40",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: pla2g4a has been classified as Green List (High Evidence).",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:36:22.673198Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: NBEA as Green List (high evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:36:22.669818Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:36:22.648666Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.39",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: nbea has been classified as Green List (High Evidence).",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:35:07.028041Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDSR: Note: this is associated to a clinically recognised phenotype characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:33:20.071941Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: KDSR as Green List (high evidence)",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:33:20.069536Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:33:20.053243Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.38",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: kdsr has been classified as Green List (High Evidence).",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:32:06.371028Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ITGA2 as Red List (low evidence)",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:32:06.368277Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red.",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:32:06.354119Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.37",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: itga2 has been classified as Red List (Low Evidence).",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:30:29.173933Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: HOXA11 as Green List (high evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:30:29.171386Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:30:29.156778Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.36",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: hoxa11 has been classified as Green List (High Evidence).",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:29:55.932966Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: GNE as Green List (high evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:29:55.930207Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:29:55.915504Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.35",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: gne has been classified as Green List (High Evidence).",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:28:24.437255Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: FLNA as Amber List (moderate evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:28:24.434177Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:28:24.415582Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.34",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: flna has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:26:00.742301Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ETV6: Changed rating: AMBER",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:25:12.944761Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: DIAPH1: Changed rating: AMBER",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:23:42.140195Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CDC42: Changed rating: AMBER",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:22:09.524660Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.33",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:21:45.938779Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ACTB: Changed rating: AMBER",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:21:34.555836Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ACTB as Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:21:34.552512Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:21:34.518110Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.32",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:21:11.216054Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ABCG8: Changed rating: AMBER",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:20:49.802910Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: ABCG8 as Green List (high evidence)",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:20:49.800515Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:20:49.784173Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.31",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: abcg8 has been classified as Green List (High Evidence).",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:20:06.693764Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: F2R as Amber List (moderate evidence)",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:20:06.690604Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber.",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:20:06.675840Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.30",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: f2r has been classified as Amber List (Moderate Evidence).",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:18:48.521055Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: EPHB2 as Amber List (moderate evidence)",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:18:48.517817Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:18:48.500700Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.29",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: ephb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:18:23.842268Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: EPHB2: Changed rating: AMBER",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-03-18T15:12:24.735679Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ETV6: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-03-18T14:10:36.435415Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ETV6: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-03-18T14:10:01.531201Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: EPHB2: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-03-18T14:09:43.827128Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: DIAPH1: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-03-18T14:08:49.916847Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: CDC42: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-03-18T14:08:13.370981Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ABCG8: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-03-18T14:07:35.004298Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "edited their review of gene: ACTB: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-03-13T11:40:09.572633Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "edited their review of gene: STX11: Added comment: Insufficient evidence to include - primary association of variants in this gene relate to familial hemophagocytic lymphohistiocytosis. Reports of increased bleeding tendency are secondary to this.; Changed rating: RED",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-03-13T10:56:16.511454Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "commented on gene: F2: Multiple reports on HGMD in association with prothrombin deficiency.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-03-13T10:49:51.375142Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 210710, # 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-03-13T10:25:25.612903Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "commented on gene: LYST: Classed as tier 1 by ISTH based on \"gene-disease association had been reported in at least 3 independent pedigrees, or <3 pedigrees and supported by specific functional data and/or a mouse model, and following expert discussions during yearly SSC meeting\".",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:51:39.579438Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:51:22.630820Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:51:08.832773Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:50:51.530760Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:50:34.831152Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:50:15.150626Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:50:01.794689Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:49:48.999454Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:49:30.901620Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:49:23.410812Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:49:14.557880Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:48:57.718012Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:48:45.455753Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"item_type": "entity",
"text": "Deleted their comment",
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{
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"text": "Deleted their comment",
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{
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"text": "Deleted their comment",
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{
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"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"text": "Deleted their comment",
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{
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"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KLKB1",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KNG1",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "LMAN1",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"item_type": "entity",
"text": "commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted",
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{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_name": "Bleeding and platelet disorders",
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"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
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},
{
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"panel_id": 545,
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RASGRP2",
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},
{
"created": "2019-02-19T12:31:22.719382Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RBM8A",
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},
{
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"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RUNX1",
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},
{
"created": "2019-02-19T12:30:12.093045Z",
"panel_name": "Bleeding and platelet disorders",
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"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:29:46.858310Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:29:37.724502Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:29:24.384752Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:29:15.605185Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:28:55.953242Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:28:47.353438Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:28:36.451795Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:28:26.329113Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:28:05.886349Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:27:52.527860Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:27:33.474686Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:27:11.029700Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:26:55.690852Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:26:39.284263Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:26:26.213456Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-19T12:26:05.496628Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.562932Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.548822Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VWF: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.521008Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS33B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.506146Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VKORC1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.491510Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VIPAS39: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.474698Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.459268Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TPM4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.444635Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THPO: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.429310Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THBD: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.414103Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXAS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.398612Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXA2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.381503Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STXBP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.363828Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STX11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STX11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.348493Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STIM1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.333667Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.318370Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLFN14: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.303293Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC45A2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.288358Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINF2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.272780Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINE1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.257836Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.243603Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.229297Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RASGRP2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.214856Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTPRJ: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.200946Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTPN11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPN11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 163950 Noonan syndrome 1; PMID(s): none submitted. Comment: ? Appropriate for this panel since Noonan's?",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.185582Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTGS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.170382Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PRKACG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.155958Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLAU: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.141469Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLA2G4A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.126211Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: P2RY12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.111146Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEAL2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.095877Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Not submitted; PMID(s): none submitted",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.081528Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MYH9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.064499Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPL: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.049824Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPIG6B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.034972Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MECOM: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.019519Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MCFD2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:45.003756Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LYST: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LYST; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 214500 Chediak-Higashi syndrome; PMID(s): none submitted",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.984841Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LMAN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.962781Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KNG1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.945585Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KLKB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.930592Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDSR: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.915352Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGB3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.900467Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.884820Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.864316Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.844602Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.829357Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS4: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.813765Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.797745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.777835Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HOXA11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.743500Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.728662Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.712692Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.694676Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.675492Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GNE: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.658272Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GGCX: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.640482Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.621395Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GBA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted. Comment: Think appropriate as Gauchers indocation",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.605702Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.587895Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.567676Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLNA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.547406Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLI1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.532104Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.517121Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.501722Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.485540Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FERMT3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.465763Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F9: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.450704Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.434293Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F7: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.419288Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.405143Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2R: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Type 1 VWD not strong enough evidence?; PMID(s): none submitted. Comment: not strong enough evidence?",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.386867Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.366256Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.348170Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13A1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.332946Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F12: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.318356Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F11: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.303987Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F10: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.289419Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.272148Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EPHB2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Not submitted; PMID(s): none submitted. Comment: One recent report",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.258138Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ENG: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.240505Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DTNBP1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.226641Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DIAPH1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.211824Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYCS: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.197552Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDC42: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.182362Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.164548Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S3: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.146080Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARPC1B: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.130876Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3D1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.115909Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3B1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.099978Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANO6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.085464Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.069271Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAMTS13: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.055546Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACVRL1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.039119Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTN1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.024437Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTB: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:44.007273Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG8: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:28:43.984890Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG5: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.257362Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked, 313900 Thrombocytopenia, X-linked (intermittent); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.239772Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.223471Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.206497Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2, 122700 Warfarin resistance; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.190421Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.175053Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.159472Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.143319Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.112727Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.096989Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.081019Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.064212Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.047725Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.031954Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:27.013931Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.998041Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.981387Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.965333Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.949181Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.933596Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.915870Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.900259Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.884066Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.863362Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 163950 Noonan syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.841072Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12, BDPLT12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.824888Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176 BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.807767Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.787825Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.769302Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.750075Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.732554Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.712126Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.692490Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.671858Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.652412Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.634854Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.617224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 214500 Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.600001Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.579961Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.562353Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.546018Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.528639Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.512003Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.495576Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.479061Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.462421Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.445298Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.428742Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.411239Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.394168Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.377696Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.361776Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.345757Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.329107Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.313053Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.296761Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.280969Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.265055Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.248793Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.232044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.216294Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.200744Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.184678Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.168292Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.152398Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.136222Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.120344Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.103864Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.087190Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.070327Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.054228Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.037655Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.021377Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:26.000720Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.984686Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.969349Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.953392Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.938078Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.921964Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.906218Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.890106Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.873449Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.856854Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.839932Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.822484Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.804774Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.787473Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.771716Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.753882Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.737465Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.719584Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.696195Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.679058Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.661136Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.643934Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.626167Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:23:25.603747Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.27",
"user_name": "Steve Keeney",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:49.612418Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:49.491983Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:49.359723Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:49.224411Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:49.088412Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:48.951325Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:48.697516Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:48.572533Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:48.438691Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:48.287870Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BDPLT13; 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:48.161884Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.917106Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 185070 Stormorken syndrome for gene: STIM1",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.773603Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.650760Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.521892Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.391469Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.265016Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.142217Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:47.013865Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.884980Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.641571Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 163950 Noonan syndrome 1 for gene: PTPN11",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.517706Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.393353Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.274558Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601709 Quebec platelet disorder for gene: PLAU",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.156307Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:46.034212Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.913875Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.683002Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.566958Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.432215Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.315258Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.199924Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:45.076870Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 214500 Chediak-Higashi syndrome for gene: LYST",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.961073Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.835586Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.716462Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.592218Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.480623Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.362951Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.193648Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:44.079009Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.961897Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.841280Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.721109Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.603299Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.489224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.376333Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP9",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.249327Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.137255Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:43.020827Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.908774Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.793266Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.668046Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.551140Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.435718Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.320811Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.186507Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Macrothrombocytopenia for gene: FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:42.076120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.966774Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.854732Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.740370Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.629902Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.520827Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 306900 Haemophilia B for gene: F9",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.406341Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 306700 Haemophilia A for gene: F8",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.287460Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227500 Factor VII deficiency for gene: F7",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.175172Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:41.060017Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Type 1 VWD for gene: F2R",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.950318Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613679 Factor II deficiency for gene: F2",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.842190Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613235 Factor XIII deficiency for gene: F13B",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.726735Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613225 Factor XIII deficiency for gene: F13A1",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.613294Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.494982Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612416 Factor XI deficiency for gene: F11",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.377149Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227600 Factor X deficiency for gene: F10",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.256558Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:40.036674Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.918667Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.803074Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.682745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.560264Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.434659Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.320317Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.201948Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:39.080954Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.958760Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.839780Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 262890 Scott syndrome for gene: ANO6",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.726930Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.612165Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.493200Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.379641Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.139939Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes AD thrombocytopenia for gene: ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:38.021744Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:18:37.906273Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.26",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:22.191925Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:22.077910Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to VWF.",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.961448Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to VPS33B.",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.841223Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to VKORC1.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.722194Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to VIPAS39.",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.604931Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.484898Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TPM4.",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.372968Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.248692Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to THBD.",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.127922Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TBXAS1.",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:21.014149Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to TBXA2R.",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.901488Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to STXBP2.",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.770747Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to STX11.",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.656134Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.538737Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SRC.",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.427488Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SLFN14.",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.317088Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SLC45A2.",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.203565Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SERPINF2.",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:20.092898Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to SERPINE1.",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.985457Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.872493Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.761664Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to RASGRP2.",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.651304Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PTPRJ.",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.541570Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PTPN11.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.431336Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.319319Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PRKACG.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.207188Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PLAU.",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:19.094732Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to PLA2G4A.",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.982562Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to P2RY12.",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.871076Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.750165Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to NBEA.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.632598Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.514074Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.405389Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.291367Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.180276Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to MCFD2.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:18.063895Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.953986Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to LMAN1.",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.832404Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to KNG1.",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.715103Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to KLKB1.",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.596328Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to KDSR.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.476713Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ITGB3.",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.361570Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ITGA2B.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.247028Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ITGA2.",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.138054Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HPS6.",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:17.029737Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HPS5.",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.925261Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HPS4.",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.816315Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HPS3.",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.562212Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HPS1.",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.453244Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.329305Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GP9.",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.211314Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GP6.",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.103745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:16.000061Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.895125Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.771044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GGCX.",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.656154Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GFI1B.",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.548244Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.433039Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.318260Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.196519Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:15.075533Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FLI1.",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.962832Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FGG.",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.847493Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FGB.",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.730782Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FGA.",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.601249Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to FERMT3.",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.495616Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F9.",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.384621Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F8.",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.268578Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F7.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.163431Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F5.",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:14.059513Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F2R.",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.959559Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.858462Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F13B.",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.740014Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F13A1.",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.630599Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.524521Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F11.",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.421757Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to F10.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.318547Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.216100Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to EPHB2.",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.115641Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ENG.",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:13.013566Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to DTNBP1.",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.909642Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.803818Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.694599Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to CDC42.",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.592972Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to BLOC1S6.",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.489005Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to BLOC1S3.",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.384928Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.279907Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to AP3D1.",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.175450Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to AP3B1.",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:12.071090Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ANO6.",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.964366Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.860916Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.754640Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ACVRL1.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.646286Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ACTN1.",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.530628Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.419254Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ABCG8.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-18T11:12:11.306636Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.24",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source North West GLH was added to ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.136492Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome; 300299 Neutropenia, severe congenital, X-linked;313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.122521Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1;613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; PMID(s): none submitted",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.109025Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.096326Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2;122700 Warfarin resistance; PMID(s): none submitted",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.083548Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.070113Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.056781Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.043461Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.030271Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: N/A AD bleeding disorder; PMID(s): 25564403",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.015787Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:57.001954Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.988831Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.974694Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.960779Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.947384Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.934233Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.921100Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.907369Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.893944Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.880574Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.866427Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; PMID(s): none submitted",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.852620Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.839175Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.826517Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Phospholipase A2, group IV A, deficiency of; PMID(s): none submitted",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.813405Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.800564Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090 Gray platelet syndrome; PMID(s): none submitted",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.787694Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.774957Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.762084Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.748341Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.734221Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.719871Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.706337Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.694258Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.681037Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; PMID(s): none submitted",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.650538Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.637886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.625648Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.612699Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.600179Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.587317Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.572945Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.559938Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.547381Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.534927Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME;; PMID(s): none submitted",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.522490Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.509761Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME; PMID(s): none submitted",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.496632Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME; 177820 von Willebrand disease, platelet-type; PMID(s): none submitted",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.484421Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Myopathy associated with thrombocytopenia; PMID(s): none submitted",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.472134Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.458645Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.446365Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I;230900 Gaucher disease, type II; 231000 Gaucher disease, type III; 231005 Gaucher disease, type IIIC; PMID(s): none submitted",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.434024Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.421529Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.408743Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: N/A Macrothrombocytopenia; PMID(s): none submitted",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.395107Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.381597Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.368603Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.355624Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital; 105200 Amyloidosis, familial visceral;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.342626Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.329172Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F9: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.316367Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.303017Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F7: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.290438Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency; PMID(s): none submitted",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.277532Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: N/A Type 1 VWD; PMID(s): none submitted",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.264886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.252152Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.239071Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.226653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F12: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.214089Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F11: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.201706Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F10: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.189214Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.176726Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.163581Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.150196Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; PMID(s): none submitted",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.136913Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.123902Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.111004Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.097148Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.083793Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.070628Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.057563Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.045150Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.032365Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.018933Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:56.006346Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:55.993125Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:55.979812Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:34:55.965613Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.23",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.278692Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.264626Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.250615Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.234950Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.220280Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.205886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.191119Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.176647Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.162465Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.147956Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.133872Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.117467Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.102526Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.087823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.072473Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.058396Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.043758Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.028395Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:11.008004Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.992880Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.977510Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.962685Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.948453Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.933005Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.917729Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.903174Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090 Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.886635Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.872422Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.857343Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.842873Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.828645Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.814229Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.798424Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.782457Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.764388Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.745026Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.728832Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.711392Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.695326Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.678782Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.662737Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.646374Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.625025Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.609463Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.592850Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.576590Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.556522Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.540336Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200BERNARD-SOULIER SYNDROME, 177820 von Willebrand disease, platelet-type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.522925Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.507406Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.489667Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.474045Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.455385Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.440591Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.424507Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.408396Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443 BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.389944Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.374011Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.355989Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.340198Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.323568Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.305894Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.288580Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.272600Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.253149Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Type 1 VWD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.236367Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.219771Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.189743Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.175144Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.156359Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.140927Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.125461Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.111033Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.094773Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.079036Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.061045Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.043586Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.025653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:10.007840Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.990045Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.973908Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.957746Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.942253Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.925091Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.909707Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.891544Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.872514Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.854625Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:32:09.838690Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.22",
"user_name": "Mandy nesbitt",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:21.176226Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:21.084984Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.996059Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.904918Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.809977Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.717357Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.529039Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.433268Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes AD bleeding disorder for gene: THBD\nPublications for gene THBD were changed from 25049278; 27479822; 28267383; 29145514 to 25564403",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.340756Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.248867Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.156753Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:20.065759Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 185070 Stormorken syndrome for gene: STIM1",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.978163Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.880712Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.788456Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.696703Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.607885Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.520511Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.430254Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.341884Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.255112Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.166121Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601709 Quebec platelet disorder for gene: PLAU",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:19.062841Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.973271Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.884474Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 139090 Gray platelet syndrome for gene: NBEAL2",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.785104Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.675303Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.584835Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.489893Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.396847Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.299438Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.203108Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.105243Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:18.010789Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.917268Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.826951Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.738066Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.644276Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.551833Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.453856Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.352451Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.249467Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:17.043591Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.952944Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP9",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.857289Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.769727Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP1BB",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.683592Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 231200BERNARD-SOULIER SYNDROME; 177820 von Willebrand disease, platelet-type for gene: GP1BA",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.580539Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.487296Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.397146Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.309433Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.222108Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.134712Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:16.047964Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Macrothrombocytopenia for gene: FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.957850Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.869418Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.782683Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital for gene: FGB",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.692015Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.604163Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.513620Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 306900 Haemophilia B for gene: F9",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.423238Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 306700 Haemophilia A for gene: F8",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.336028Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227500 Factor VII deficiency for gene: F7",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.249165Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227400 Factor V deficiency for gene: F5",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.158123Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Type 1 VWD for gene: F2R",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:15.067676Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613679 Factor II deficiency for gene: F2",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.980825Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613235 Factor XIII deficiency for gene: F13B",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.892352Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613225 Factor XIII deficiency for gene: F13A1",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.791948Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.688522Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612416 Factor XI deficiency for gene: F11",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.599754Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227600 Factor X deficiency for gene: F10",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.509171Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.418095Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.326685Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.236521Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 124900 Macrothrombocytopenia and hearing loss for gene: DIAPH1",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.144405Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:14.037643Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.951908Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.863989Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.768293Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.680823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.584246Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.494199Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 262890 Scott syndrome for gene: ANO6",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.401429Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.312419Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.217137Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.120160Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:13.028044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:28:12.933781Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.21",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:18.016480Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.923707Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VWF.",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.833115Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VPS33B.",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.745020Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VKORC1.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.655183Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to VIPAS39.",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.560068Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.417120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TPM4.",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.318192Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.219115Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to THBD.",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.128346Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TBXAS1.",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:17.035744Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to TBXA2R.",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.946209Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to STXBP2.",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.856563Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.763715Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SRC.",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.673325Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SLFN14.",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.568901Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SERPINF2.",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.478503Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to SERPINE1.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.388288Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.293930Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.197678Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to RASGRP2.",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.104054Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:16.012996Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PRKACG.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.921025Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PLAU.",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.827803Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to PLA2G4A.",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.730676Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to P2RY12.",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.635335Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.546747Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.459572Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.369540Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.278570Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.185810Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to MCFD2.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.096154Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to LMAN1.",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:15.002012Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KNG1.",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.910748Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KLKB1.",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.814481Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to KDSR.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.707520Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ITGB3.",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.610759Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ITGA2B.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.519224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ITGA2.",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.431193Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HPS6.",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.340558Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HPS5.",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.249559Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HPS4.",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.157463Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HPS3.",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:14.066740Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HPS1.",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.968544Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.876421Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GP9.",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.782819Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GP6.",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.692864Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.601710Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.512235Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.425556Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GGCX.",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.320121Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GFI1B.",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.221822Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.129326Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:13.040414Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.947819Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.744034Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FLI1.",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.654463Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FGG.",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.566482Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FGB.",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.476335Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FGA.",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.387256Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to FERMT3.",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.289399Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F9.",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.188705Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F8.",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.096692Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F7.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:12.007065Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F5.",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.915447Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F2R.",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.816492Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F2.\nRating Changed from Green List (high evidence) to Green List (high evidence)",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.721265Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F13B.",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.625880Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F13A1.",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.531877Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.434392Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F11.",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.334060Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to F10.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.227296Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.119468Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ENG.",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:11.023642Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DTNBP1.",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.928838Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.813944Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.705998Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to CDC42.",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.597776Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to BLOC1S6.",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.493686Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to BLOC1S3.",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.385121Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.266715Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP3D1.",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.146017Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to AP3B1.",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:10.041243Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ANO6.",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:09.938839Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:09.838139Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:09.735976Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ACVRL1.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:09.637722Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ACTN1.",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:09.531888Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ABCG8.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-13T11:23:09.417836Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.19",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Yorkshire and North East GLH was added to ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:54:10.491793Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SERPINE1 as Green List (high evidence)",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:54:10.484314Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.18",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: serpine1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:53:56.377637Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:53:12.576663Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: F2 as Green List (high evidence)",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:53:12.567770Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.17",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: f2 has been classified as Green List (High Evidence).",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:53:00.357848Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: F2 as Amber List (moderate evidence)",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:53:00.349650Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.16",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: f2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:52:51.020818Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Classified gene: SERPINE1 as Amber List (moderate evidence)",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:52:51.013784Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.15",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Gene: serpine1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.610861Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.597576Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.583967Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.570651Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.557185Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.539067Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.525777Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.512887Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.499010Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.485193Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.471786Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.458128Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.444306Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.429279Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.414383Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.399332Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.384552Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.369976Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINE1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINE1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; PMID(s): none submitted",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.355001Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.340252Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.324270Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.308708Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTPRJ: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.291519Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.276489Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.263037Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.246924Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.228368Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.214783Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.202089Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.188810Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.175289Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.162518Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.149025Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.131719Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.112781Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.095805Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.078825Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.063037Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.049477Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.031084Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:45.014752Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.997954Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.980322Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.962590Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.947709Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.929026Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.912168Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.894242Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.877754Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.861230Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.848083Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.830734Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.814806Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.797528Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.781013Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.763134Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.749167Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.731869Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.713609Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.692731Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.675289Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.657739Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.643380Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.624625Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.606658Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.588488Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F7: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.569706Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.552868Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.536351Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613679 Factor II deficiency; PMID(s): none submitted",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.517681Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.499535Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.480291Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.463022Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.449070Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F10: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.436322Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.423270Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EPHB2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.409863Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.392880Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.375566Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.356281Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.335480Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.317471Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.296071Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.276664Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.259497Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.242940Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.224192Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.208189Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Provide exceptions to loss-of-function rule for mode of pathogenicity if applicable: Other - please provide details in the comments; Comment: Gain of function variants in 5'UTR.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.191483Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.168657Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.146473Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.127758Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.109107Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:44:44.086523Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.14",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:42:10.067494Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.13",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:41:37.020632Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Mode of inheritance for gene: F2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:36:15.197741Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SERPINE1.",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:36:11.097072Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.11",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.282315Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: WAS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: WAS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); PMID(s): none submitted",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.265862Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VWF: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VWF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; PMID(s): none submitted",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.249308Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VPS33B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; PMID(s): none submitted",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.232777Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VKORC1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VKORC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; PMID(s): none submitted",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.215652Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.201480Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TUBB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; PMID(s): none submitted",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.184913Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TPM4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TPM4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.171728Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THPO: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THPO; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; PMID(s): none submitted",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.159245Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: THBD: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: THBD; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; PMID(s): none submitted",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.146224Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXAS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXAS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; PMID(s): none submitted",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.133207Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: TBXA2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.120527Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STXBP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STXBP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; PMID(s): none submitted",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.103142Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: STIM1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: STIM1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 185070 Stormorken syndrome; PMID(s): none submitted",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.090521Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SRC: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616937 ?Thrombocytopenia 6; PMID(s): none submitted",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.077736Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLFN14: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLFN14; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; PMID(s): none submitted",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.064629Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.051391Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: SERPINF2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SERPINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; PMID(s): none submitted",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.039768Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.024823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.012498Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:45.000472Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: RASGRP2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RASGRP2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; PMID(s): none submitted",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.988131Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTPRJ: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTPRJ; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.975452Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PTGS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PTGS1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12; PMID(s): none submitted",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.962848Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PRKACG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submitted",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.949858Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLAU: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLAU; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 601709 Quebec platelet disorder; PMID(s): none submitted",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.937493Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: PLA2G4A: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PLA2G4A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.924540Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: P2RY12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: P2RY12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12; PMID(s): none submitted",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.912121Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEAL2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEAL2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 139090, Gray platelet syndrome; PMID(s): none submitted",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.899093Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: NBEA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: NBEA; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.886555Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MYH9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYH9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; PMID(s): none submitted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.874136Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPL: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; PMID(s): none submitted",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.860852Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MPIG6B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; PMID(s): none submitted",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.847681Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MECOM: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MECOM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; PMID(s): none submitted",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.834179Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MCFD2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MCFD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; PMID(s): none submitted",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.821120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: LMAN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: LMAN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227300 Combined factor V and VIII deficiency; PMID(s): none submitted",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.807660Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KNG1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KNG1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; PMID(s): none submitted",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.794208Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KLKB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KLKB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; PMID(s): none submitted",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.780783Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: KDSR: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KDSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.763237Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGB3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGB3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.743707Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.725109Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ITGA2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.711859Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; PMID(s): none submitted",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.698923Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; PMID(s): none submitted",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.686693Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS4: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; PMID(s): none submitted",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.674434Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; PMID(s): none submitted",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.661886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HPS1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HPS1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; PMID(s): none submitted",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.649596Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: HOXA11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submitted",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.636862Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.623063Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; PMID(s): none submitted",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.610777Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.595790Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GP1BA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submitted",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.578693Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GNE: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GNE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.566657Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GGCX: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GGCX; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; PMID(s): none submitted",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.554823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GFI1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; PMID(s): none submitted",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.542120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.529442Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: GATA1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; PMID(s): none submitted",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.517010Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FYB1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FYB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submitted",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.503887Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLNA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLNA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.491486Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FLI1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FLI1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21; PMID(s): none submitted",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.478725Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.465788Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.453204Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FGA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FGA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; PMID(s): none submitted",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.440133Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: FERMT3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FERMT3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; PMID(s): none submitted",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.426829Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F9: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306900 Haemophilia B; PMID(s): none submitted",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.414149Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F8; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 306700 Haemophilia A; PMID(s): none submitted",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.400763Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F7: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F7; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227500 Factor VII deficiency; PMID(s): none submitted",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.388094Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; PMID(s): none submitted",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.375572Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F2R: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F2R; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.363521Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.348188Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613235 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.335523Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F13A1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F13A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 613225 Factor XIII deficiency; PMID(s): none submitted",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.322497Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F12: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F12; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.310175Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F11: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 612416 Factor XI deficiency; PMID(s): none submitted",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.297195Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: F10: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: F10; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 227600 Factor X deficiency; PMID(s): none submitted",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.284332Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.272143Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: EPHB2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: EPHB2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A; PMID(s): none submitted",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.259658Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ENG: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ENG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; PMID(s): none submitted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.246391Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DTNBP1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DTNBP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; PMID(s): none submitted",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.234204Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: DIAPH1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DIAPH1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.221938Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CYCS: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYCS; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 612004 Thrombocytopenia 4; PMID(s): none submitted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.209386Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: CDC42: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CDC42; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 616737 Takenouchi-Kosaki syndrome; PMID(s): none submitted",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.195958Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; PMID(s): none submitted",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.183878Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: BLOC1S3: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BLOC1S3; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; PMID(s): none submitted",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.171730Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARPC1B: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ARPC1B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PMID(s): none submitted",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.159595Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3D1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3D1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; PMID(s): none submitted",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.147202Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: AP3B1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AP3B1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; PMID(s): none submitted",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.135044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANO6: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANO6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 262890 Scott syndrome; PMID(s): none submitted",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.122407Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ANKRD26: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Phenotypes: 188000 Thrombocytopenia 2; PMID(s): none submitted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Provide exceptions to loss-of-function rule for mode of pathogenicity if applicable: Other - please provide details in the comments; Comment: Gain of function variants in 5'UTR.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.109878Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ADAMTS13: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.097514Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACVRL1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACVRL1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; PMID(s): none submitted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.084251Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTN1: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTN1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; PMID(s): none submitted",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.071124Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ACTB: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submitted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.058556Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG8: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG8; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:28:44.044141Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.10",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ABCG5: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ABCG5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; PMID(s): none submitted",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.786332Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 301000 Wiskott-Aldrich syndrome, 300299 Neutropenia, severe congenital, X-linked , 313900 Thrombocytopenia, X-linked (intermittent); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.767653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193400 von Willebrand disease, type 1, 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.749335Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 208085 Arthrogryposis, renal dysfunction, and cholestasis 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.731291Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2. 122700 Warfarin resistance; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.712640Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.692798Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.674816Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.656665Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187950 Thrombocytopenia and thrombocythemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.640542Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614486 Thrombophilia due to thrombomodulin defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.622888Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.604359Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.583247Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613101 Hemophagocytic lymphohistiocytosis, familial, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.564194Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.545166Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616937 ?Thrombocytopenia 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.525772Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616913 Bleeding disorder, platelet-type, 20; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.505582Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.472536Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262850 Alpha-2-plasmin inhibitor deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.453289Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613329 Plasminogen activator inhibitor-1 deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.434264Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.414976Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.396183Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615888 ?Bleeding disorder, platelet-type, 18; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.376764Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.357765Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 605735.BLEEDING DISORDER, PLATELET-TYPE, 12, BDPLT12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.334161Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19, BDPLT19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.315806Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601709 Quebec platelet disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.296809Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phospholipase A2, group IV A, deficiency of (NO OMIM NUMBER); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.278368Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12, P2RY12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.259645Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 139090, Gray platelet syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.240569Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.221786Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.203035Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604498 Thrombocytopenia, congenital amegakaryocytic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.184062Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 ?Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.160658Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.141414Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613625 Factor V and factor VIII, combined deficiency of; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.122043Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227300 Combined factor V and VIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.103422Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency]; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.084570Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612423 Fletcher factor (prekallikrein) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.065714Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.046703Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.027839Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:19.008876Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.987492Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614075 Hermansky-Pudlak syndrome 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.967908Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614074 Hermansky-Pudlak syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.948659Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614073 Hermansky-Pudlak syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.930087Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614072 Hermansky-Pudlak syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.911710Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 203300 Hermansky-Pudlak syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.892267Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.875986Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200.BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.859945Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614201 Bleeding disorder, platelet-type, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.840806Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200.BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.821590Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200.BERNARD-SOULIER SYNDROME, BSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.801589Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy associated with thrombocytopenia (NO OMIM NUMBER); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.781244Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.766215Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187900 Bleeding disorder, platelet-type, 17; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.747936Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.729287Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.710736Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 273900 Thrombocytopenia 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.692477Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia (NO OMIM NUMBER); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.675637Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617443.BLEEDING DISORDER, PLATELET-TYPE, 21, BDPLT21; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.659724Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.640468Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.621024Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.602407Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612840 Leukocyte integrin adhesion deficiency, type III; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.584364Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306900 Haemophilia B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.569466Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 306700 Haemophilia A; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.552174Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227500 Factor VII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.534070Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.514384Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.496449Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613679 Factor II deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.405540Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613235 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.380940Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613225 Factor XIII deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.365223Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.349289Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612416 Factor XI deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.331535Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227600 Factor X deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.312017Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.293217Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: N/A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.273835Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187300 Telangiectasia, hereditary hemorrhagic, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.255989Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614076 Hermansky-Pudlak syndrome 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.238586Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss, (NO OMIM NUMBER); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.220609Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612004 Thrombocytopenia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.202559Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616737 Takenouchi-Kosaki syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.184622Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614171 ?Hermansky-pudlak syndrome 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.167632Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614077 Hermansky-Pudlak syndrome 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.152568Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.136141Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617050 ?Hermansky-Pudlak syndrome 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.118829Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 608233 Hermansky-Pudlak syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.101314Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 262890 Scott syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.082108Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 188000 Thrombocytopenia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.062721Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.048247Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600376 Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.033579Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615193 Bleeding disorder, platelet-type, 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:18.015394Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: AD thrombocytopenia, (NO OMIM NUMBER); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:17.996285Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:21:17.975149Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.9",
"user_name": "Michael Mitchell",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210250 Sitosterolemia & Thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:31.463416Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 313900 Thrombocytopenia, X-linked (intermittent); 300299 Neutropenia, severe congenital, X-linked; 301000 Wiskott-Aldrich syndrome for gene: WAS",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:31.378034Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:31.287144Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:31.183884Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:31.094438Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:31.007500Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.842757Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.750765Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.659876Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614158 ?Thromboxane synthase deficiency, 231095 Ghosal hematodiaphyseal syndrome for gene: TBXAS1",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.552832Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.440416Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.328412Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 185070 Stormorken syndrome for gene: STIM1",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.215164Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:30.097572Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.986594Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.881071Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.774105Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613329 Plasminogen activator inhibitor-1 deficiency for gene: SERPINE1",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.680920Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.588855Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.513348Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.363240Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.286951Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.211697Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 601709 Quebec platelet disorder for gene: PLAU",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.135775Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Phospholipase A2, group IV A, deficiency of for gene: PLA2G4A",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:29.059822Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 600515.PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12 for gene: P2RY12",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.982256Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 139090, Gray platelet syndrome for gene: NBEAL2",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.821980Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.741991Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.662691Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.581196Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.495656Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.414817Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.229020Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 228960 [High molecular weight kininogen deficiency]/[Kininogen deficiency] for gene: KNG1",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.152214Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:28.076367Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.999086Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.898871Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.810653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.720483Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.626774Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.540468Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.453646Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.366534Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.286480Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.200277Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 231200BERNARD-SOULIER SYNDROME; BSS for gene: GP9",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.115679Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:27.025230Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.944652Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.866959Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Myopathy associated with thrombocytopenia for gene: GNE",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.789531Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.711984Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.631060Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.550712Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.464516Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.363738Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Macrothrombocytopenia for gene: FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.272427Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 for gene: FLI1",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.182198Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:26.076903Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.973948Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.874881Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.774333Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 306900 Haemophilia B for gene: F9",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.674225Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 306700 Haemophilia A for gene: F8",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.591060Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227500 Factor VII deficiency for gene: F7",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.514857Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227400 Factor V deficiency, 188055 Thrombophilia due to activated protein C resistance, 188055 {Thrombophilia, susceptibility to, due to factor V Leiden} for gene: F5",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.361622Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613679 Factor II deficiency for gene: F2",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.280988Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613235 Factor XIII deficiency for gene: F13B",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.188100Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 613225 Factor XIII deficiency for gene: F13A1",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.107873Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:25.030080Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612416 Factor XI deficiency for gene: F11",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.943560Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 227600 Factor X deficiency for gene: F10",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.860191Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.697349Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.610289Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.527622Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.442298Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 612004 Thrombocytopenia 4 for gene: CYCS",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.358069Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.260669Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.163859Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.083261Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:24.000767Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.918858Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.839609Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 262890 Scott syndrome for gene: ANO6",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.760620Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.667846Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.590581Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.510172Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.425400Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes AD thrombocytopenia for gene: ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.344613Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:17:23.259079Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.8",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Added phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.742026Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.656724Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to VWF.",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.569348Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to VPS33B.",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.473803Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to VKORC1.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.361636Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to VIPAS39.",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.265792Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.149493Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TPM4.",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:31.044544Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.961010Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to THBD.",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.869914Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TBXAS1.",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.777355Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to TBXA2R.",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.685225Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to STXBP2.",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.593042Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.505377Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SRC.",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.413014Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SLFN14.",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.326967Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SLC45A2.",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.246343Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to SERPINF2.",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.189612Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SERPINE1 was added\ngene: SERPINE1 was added to Bleeding and platelet disorders. Sources: London South GLH\nMode of inheritance for gene: SERPINE1 was set to ",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.115290Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:30.020603Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.919882Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to RASGRP2.",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.820706Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to PTPRJ.",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.724191Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.625821Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to PRKACG.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.526393Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to PLAU.",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.423068Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to PLA2G4A.",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.330364Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to P2RY12.",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.237256Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.141237Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to NBEA.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:29.051718Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.941427Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.840642Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.749687Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.655108Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to MCFD2.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.555616Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to LMAN1.",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.440733Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to KNG1.",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.325002Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to KLKB1.",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.210115Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to KDSR.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:28.099106Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ITGB3.",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.976472Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ITGA2B.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.862537Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ITGA2.",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.753803Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HPS6.",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.652049Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HPS5.",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.539119Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HPS4.",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.439353Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HPS3.",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.334695Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HPS1.",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.229395Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:27.133454Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GP9.",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.929457Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GP6.",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.833529Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.739541Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.642122Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.548927Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GGCX.",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.450623Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GFI1B.",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.349687Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.253307Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.151939Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:26.048612Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.950648Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FLI1.",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.850144Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FGG.",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.740402Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FGB.",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.645406Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FGA.",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.554860Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to FERMT3.",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.467344Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F9.",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.375789Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F8.",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.281056Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F7.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.187397Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F5.",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.092671Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F2R.",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:25.022111Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F2 was added\ngene: F2 was added to Bleeding and platelet disorders. Sources: London South GLH\nMode of inheritance for gene: F2 was set to ",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.925627Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F13B.",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.839926Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F13A1.",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.759041Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.669149Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F11.",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.588886Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to F10.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.508663Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.426561Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to EPHB2.",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.344645Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ENG.",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.252551Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to DTNBP1.",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.164771Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:24.081049Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.987348Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to CDC42.",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.893630Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to BLOC1S6.",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.806347Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to BLOC1S3.",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.716285Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.623773Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to AP3D1.",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.550097Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to AP3B1.",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.473488Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ANO6.",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.394726Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.318538Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.243142Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ACVRL1.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.161992Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ACTN1.",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:23.081285Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:22.990480Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ABCG8.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-07T13:03:22.903135Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.7",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source London South GLH was added to ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:30:29.602841Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: MKL1: New HGNC approved gene symbol for MKL1 is MRTFA",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:30:17.554881Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: MKL1.",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.841641Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.825205Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.810487Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.794238Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.779750Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.764747Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.749549Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.733015Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.713966Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.698896Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.683859Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.667995Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TBXAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.653488Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.638666Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.624070Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.608943Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.594309Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.576945Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.557703Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLFN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.539260Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.519388Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.500956Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.481987Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.459914Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RGS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.441905Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.423154Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.404383Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTPRJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.385898Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.367309Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.348821Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.329591Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLAU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.310753Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: PLA2G4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.292753Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.274349Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: P2RX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.256223Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.238314Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.220160Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.201422Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.183483Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.165353Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.147479Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.128904Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.108847Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.090274Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.071245Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.052319Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.036754Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.021890Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:43.007828Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.992731Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.978114Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.963985Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.948491Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.925592Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HPS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.911155Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.896140Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.880904Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.861037Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.845452Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.829691Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.814534Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.797550Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.782437Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GFI1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.766999Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.738575Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.723883Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.708380Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.693485Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.678418Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.663261Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.648340Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.634104Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.619280Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.604339Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.589196Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.573019Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.557467Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.542653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.527777Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.513187Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.495138Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.478960Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.463984Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.449900Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.434544Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.419835Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.404245Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.388267Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.372364Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.357282Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.341842Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.327048Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.311759Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.297146Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.269918Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.254956Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.239936Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.223825Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.208743Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.191176Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.173654Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ANO6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.158166Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.141390Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.125975Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.110752Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.096251Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.080168Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-05T13:26:42.063940Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.6",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:48.057343Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:48.036925Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:48.015595Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.997594Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.981468Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.963192Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.940926Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.923122Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TRPM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.905831Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.884417Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.869295Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: THBD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.854874Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.837038Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.821960Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.806786Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.791481Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.776712Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.761992Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.747139Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.732790Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.718932Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.704534Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.690598Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.675988Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RGS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.661653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.646865Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.630268Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: PTPRJ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.611485Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.594797Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: PTGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.575935Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: PRKACG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.557375Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: PLAU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.541471Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: PLA2G4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.522634Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.503408Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: P2RX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.484264Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.462649Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.432789Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.418226Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MKL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.403913Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.389721Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MPIG6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.375150Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.360342Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.345378Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.330720Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.316236Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: KNG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.301378Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: KLKB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.285274Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.267837Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ITGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.252665Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.237477Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.222431Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.202482Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.185448Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.167898Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.151906Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.133169Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: HOXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.114272Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.094748Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.080059Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.064967Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.050587Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.035593Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.020732Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GFI1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:47.007089Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.993276Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.978814Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.962442Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.947000Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.931809Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FLI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.917312Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.902004Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.886739Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.872204Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.856243Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.840213Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.824689Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.808556Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.791822Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.712567Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.693362Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.674773Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.655800Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.635568Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: F10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.616338Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.596530Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: EPHB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.573661Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.552806Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: DTNBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.536873Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.521011Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.506120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.489781Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.474434Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.458554Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.443673Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.427366Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.411577Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.396970Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: BLOC1S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.382525Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.367351Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.352624Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.337709Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ANO6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.322483Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.303019Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.283922Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.265599Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ACTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.246753Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.224175Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:19:46.208499Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.5",
"user_name": "Carl Fratter",
"item_type": "entity",
"text": "reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.928637Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to WAS.",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.848371Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VWF.",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.774973Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VPS33B.",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.700431Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VKORC1.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.622479Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to VIPAS39.",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.546113Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to UNC13D.",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.472441Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TUBB1.",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.391079Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TRPM7.",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.314002Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TPM4.",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.237672Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to THPO.",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.163690Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to THBD.",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.084481Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TBXAS1.",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:57.007906Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to TBXA2R.",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.932456Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STXBP2.",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.859981Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STX11.",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.784420Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to STIM1.",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.711280Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SRC.",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.639139Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SMAD4.",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.567048Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLFN14.",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.492963Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SLC45A2.",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.416697Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to SERPINF2.",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.332641Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RUNX1.",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.246249Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RNU4ATAC.",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.172060Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RGS2.",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.089371Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RBM8A.",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:56.005422Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to RASGRP2.",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.919257Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PTPRJ.",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.831543Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PTPN11.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.744618Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PTGS1.",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.664598Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PRKACG.",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.581796Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLAU.",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.499872Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to PLA2G4A.",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.421123Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to P2RY12.",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.338514Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to P2RX1.",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.262012Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NBEAL2.",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.184536Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to NBEA.",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.106715Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MYH9.",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:55.034199Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MKL1.",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.948734Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MPL.",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.876430Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MPIG6B.",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.804313Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MECOM.",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.731442Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to MCFD2.",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.658849Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.581238Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to LMAN1.",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.505808Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KNG1.",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.431884Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KLKB1.",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.355696Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to KDSR.",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.283253Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ITGB3.",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.209676Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ITGA2B.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:54.136157Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ITGA2.",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.987367Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HPS6.",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.886044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HPS5.",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.783196Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HPS4.",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.684995Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HPS3.",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.582412Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HPS1.",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.480334Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to HOXA11.",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.368630Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GP9.",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.269621Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GP6.",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.175462Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GP1BB.",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:53.086962Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.997311Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GNE.",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.897515Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GGCX.",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.799443Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GFI1B.",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.710207Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GBA.",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.617634Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GATA1.",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.531902Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to GALE.",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.443896Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FYB1.",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.351342Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.250771Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FLI1.",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.157436Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FGG.",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:52.041225Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FGB.",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.942405Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FGA.",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.833926Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to FERMT3.",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.730071Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F9.",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.632379Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F8.",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.529560Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F7.",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.433934Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F5.",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.330237Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F2R.",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.236937Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F13B.",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.145875Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F13A1.",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:51.056443Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F12.",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.961522Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F11.",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.855805Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to F10.",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.749106Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ETV6.",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.648293Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to EPHB2.",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.548165Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ENG.",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.457150Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DTNBP1.",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.359652Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to DIAPH1.",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.270721Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CYCS.",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.174718Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COL5A2.",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:50.064252Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COL5A1.",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.968735Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COL3A1.",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.883324Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to COL1A1.",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.750960Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CHST14.",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.651044Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to CDC42.",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.558227Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BLOC1S6.",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.466120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to BLOC1S3.",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.380291Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.294745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP3D1.",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.202616Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to AP3B1.",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.106723Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ANO6.",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:49.007254Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ANKRD26.",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:48.820448Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ADAMTS13.",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:48.731122Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ACVRL1.",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:48.644629Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ACTN1.",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:48.551235Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ACTB.",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:48.436373Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCG8.",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:18:48.338668Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.4",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source NHS GMS was added to ABCG5.",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:27.352990Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to WAS.\nMode of inheritance for gene WAS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes 300299 Neutropenia, severe congenital, X-linked; 313900 Thrombocytopenia, X-linked intermittent; 301000 Wiskott-Aldrich syndrome for gene: WAS\nPublications for gene WAS were changed from to 20173115; 15284122; 17400488\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:27.272024Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VWF.\nMode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N; 277480 von Willibrand disease, type 3; 193400 von Willebrand disease, type 1 for gene: VWF\nPublications for gene VWF were changed from to 16985174; 23407766; 28971901\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:27.188866Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VPS33B.\nMode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 208085 Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B\nPublications for gene VPS33B were changed from to 15052268; 16896922; 22753090\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:27.112251Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VKORC1.\nMode of inheritance for gene VKORC1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 607473 Vitamin K-dependent clotting factors, combined deficiency of, 2; 122700 Warfarin resistance for gene: VKORC1\nPublications for gene VKORC1 were changed from to 26287237; 14765194; 20946155\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:27.037404Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to VIPAS39.\nMode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39\nPublications for gene VIPAS39 were changed from to 22753090; 28039895; 20190753\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.961019Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to UNC13D.\nMode of inheritance for gene UNC13D was changed from to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene UNC13D were changed from to 28399723; 28748566\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.831285Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TUBB1.\nMode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related for gene: TUBB1\nPublications for gene TUBB1 were changed from to 27479822; 27905099; 24344610\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.755549Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TRPM7.\nMode of inheritance for gene TRPM7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes macrothrombocytopenia; (NO OMIM NUMBER OR DISEASE NAME for gene: TRPM7\nPublications for gene TRPM7 were changed from to 27020697\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.678855Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TPM4.\nMode of inheritance for gene TPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene TPM4 were changed from to 27479822; 28134622\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.600279Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to THPO.\nMode of inheritance for gene THPO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 187950 Thrombocytopenia and thrombocythemia 1 for gene: THPO\nPublications for gene THPO were changed from to 28466964; 28559357; 29191945\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.522980Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to THBD.\nMode of inheritance for gene THBD was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 614486 Thrombophilia due to thrombomodulin defect for gene: THBD\nPublications for gene THBD were changed from to 25049278; 27479822; 28267383; 29145514\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.440283Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TBXAS1.\nMode of inheritance for gene TBXAS1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 231095 Ghosal hematodiaphyseal syndrome; 614158 ?Thromboxane synthase deficiency for gene: TBXAS1\nPublications for gene TBXAS1 were changed from to 18264100; 28868793\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.356005Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to TBXA2R.\nMode of inheritance for gene TBXA2R was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R\nPublications for gene TBXA2R were changed from to 22517902; 8972034; 24452735; 30089223; 19828703; 8428006\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.272080Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STXBP2.\nMode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 613101 Hemophagocytic lymphohistiocytosis, familial, 5 for gene: STXBP2\nPublications for gene STXBP2 were changed from to 20798128; 25564401; 19804848\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.182711Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STX11.\nMode of inheritance for gene STX11 was changed from to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene STX11 were changed from to 28399723\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.098929Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to STIM1.\nMode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 185070 Stormorken syndrome for gene: STIM1\nPublications for gene STIM1 were changed from to 19420366; 27876257\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:26.020162Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SRC.\nMode of inheritance for gene SRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 616937 ?Thrombocytopenia 6 for gene: SRC\nPublications for gene SRC were changed from to 26936507\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.932374Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMAD4.\nMode of inheritance for gene SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes (NO OMIM NUMBER); hereditary hemorrhagic telangiectasia syndrome for gene: SMAD4\nPublications for gene SMAD4 were changed from to 25269631; 24001356; 30251589; 16613914\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.841970Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLFN14.\nMode of inheritance for gene SLFN14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 616913 Bleeding disorder, platelet-type, 20 for gene: SLFN14\nPublications for gene SLFN14 were changed from to 26769223; 26280575\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.758264Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SLC45A2.\nMode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2\nPublications for gene SLC45A2 were changed from to none submitted\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.665309Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to SERPINF2.\nMode of inheritance for gene SERPINF2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 262850 Alpha-2-plasmin inhibitor deficiency for gene: SERPINF2\nPublications for gene SERPINF2 were changed from to 14999928; 29656168; 17961166\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.573567Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RUNX1.\nMode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1\nPublications for gene RUNX1 were changed from to 28240786; 24100448; 10508512\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.482146Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RNU4ATAC.\nMode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome for gene: RNU4ATAC\nPublications for gene RNU4ATAC were changed from to none submitted\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.378125Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RGS2.\nMode of inheritance for gene RGS2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene RGS2 were changed from to 20403096; 28784619\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.303234Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RBM8A.\nMode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A\nPublications for gene RBM8A were changed from to 22366785; 24053387\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.228891Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to RASGRP2.\nMode of inheritance for gene RASGRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 615888 ?Bleeding disorder, platelet-type, 18 for gene: RASGRP2\nPublications for gene RASGRP2 were changed from to 28637664; 27235135; 28762304\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.147847Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PTPRJ.\nMode of inheritance for gene PTPRJ was changed from to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene PTPRJ were changed from to 30591527\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:25.061437Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PTPN11.\nMode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 163950 Noonan syndrome 1 for gene: PTPN11\nPublications for gene PTPN11 were changed from to none submitted\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.972544Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PTGS1.\nMode of inheritance for gene PTGS1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes BDPLT12; 605735 BLEEDING DISORDER, PLATELET-TYPE, 12 for gene: PTGS1\nPublications for gene PTGS1 were changed from to 11442478; 27629384; 8562397; 28748566; 6103258\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.885691Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PRKACG.\nMode of inheritance for gene PRKACG was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG\nPublications for gene PRKACG were changed from to 25061177\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.810564Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PLAU.\nMode of inheritance for gene PLAU was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 601709 Quebec platelet disorder for gene: PLAU\nPublications for gene PLAU were changed from to 28301587; 20007542\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.740905Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to PLA2G4A.\nMode of inheritance for gene PLA2G4A was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Phospholipase A2, group IV A, deficiency of; (NO OMIM NUMBER) for gene: PLA2G4A\nPublications for gene PLA2G4A were changed from to 21247147; 18451993; 23268370\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.671120Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to P2RY12.\nMode of inheritance for gene P2RY12 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes P2RY12; 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12 for gene: P2RY12\nPublications for gene P2RY12 were changed from to 11196645; 609821; 20966167\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.603381Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to P2RX1.\nMode of inheritance for gene P2RX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY for gene: P2RX1\nPublications for gene P2RX1 were changed from to 10816552\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.534457Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NBEAL2.\nMode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 139090 Gray platelet syndrome for gene: NBEAL2\nPublications for gene NBEAL2 were changed from to 21765412; 27870194; 21765411\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.461071Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to NBEA.\nMode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene NBEA were changed from to 28748566\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.390691Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MYH9.\nMode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9\nPublications for gene MYH9 were changed from to 28368695; 29679756; 24186861\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.315851Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MKL1.\nMode of inheritance for gene MKL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene MKL1 were changed from to 27479822\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.240074Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MPL.\nMode of inheritance for gene MPL was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 604498 Thrombocytopenia, congenital amegakaryocytic for gene: MPL\nPublications for gene MPL were changed from to 16470591; 11133753; 22180433\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.169896Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MPIG6B.\nMode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 617441 ?Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B\nPublications for gene MPIG6B were changed from to 29898956; 27743390\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.093309Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MECOM.\nMode of inheritance for gene MECOM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 for gene: MECOM\nPublications for gene MECOM were changed from to 26581901; 29540340; 29519864\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:24.019624Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to MCFD2.\nMode of inheritance for gene MCFD2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 613625 Factor V and factor VIII, combined deficiency of for gene: MCFD2\nPublications for gene MCFD2 were changed from to 20004600; 12717434; 16304051\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.941708Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to LYST.\nMode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 214500 Chediak-Higashi syndrome for gene: LYST\nPublications for gene LYST were changed from to 9215680; 11857544; 21209802\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.852382Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to LMAN1.\nMode of inheritance for gene LMAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 227300 Combined factor V and VIII deficiency for gene: LMAN1\nPublications for gene LMAN1 were changed from to 10090934; 10090935; 16304051\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.773512Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KNG1.\nMode of inheritance for gene KNG1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 228960 [High molecular weight kininogen deficiency]; [Kininogen deficiency] for gene: KNG1\nPublications for gene KNG1 were changed from to 12576314; 24492696; 7901207\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.680299Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KLKB1.\nMode of inheritance for gene KLKB1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 612423 Fletcher factor (prekallikrein) deficiency for gene: KLKB1\nPublications for gene KLKB1 were changed from to 17598838; 14652634; 20301226\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.591045Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to KDSR.\nMode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes (NO OMIM NUMBER OR DISEASE); Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR\nPublications for gene KDSR were changed from to 30467204\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.500302Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ITGB3.\nMode of inheritance for gene ITGB3 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGB3\nPublications for gene ITGB3 were changed from to 19691478; 25728920; 20020534\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.423666Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ITGA2B.\nMode of inheritance for gene ITGA2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B\nPublications for gene ITGA2B were changed from to 29675921; 25728920; 24498605\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.324912Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ITGA2.\nMode of inheritance for gene ITGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2\nPublications for gene ITGA2 were changed from to 10590055\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.237923Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPS6.\nMode of inheritance for gene HPS6 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614075 Hermansky-Pudlak syndrome 6 for gene: HPS6\nPublications for gene HPS6 were changed from to 27514596; 27593200; 19843503\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.141770Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPS5.\nMode of inheritance for gene HPS5 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614074 Hermansky-Pudlak syndrome 5 for gene: HPS5\nPublications for gene HPS5 were changed from to 27514596; 28296950; 28640947\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:23.060852Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPS4.\nMode of inheritance for gene HPS4 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614073 Hermansky-Pudlak syndrome 4 for gene: HPS4\nPublications for gene HPS4 were changed from to 27514596; 12664304; 29108692\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.980049Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPS3.\nMode of inheritance for gene HPS3 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614072 Hermansky-Pudlak syndrome 3 for gene: HPS3\nPublications for gene HPS3 were changed from to 27514596; 11590544; 28284561\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.897823Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HPS1.\nMode of inheritance for gene HPS1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 203300 Hermansky-Pudlak syndrome 1 for gene: HPS1\nPublications for gene HPS1 were changed from to 27514596; 29345414; 12442288; 25707719\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.822152Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to HOXA11.\nMode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11\nPublications for gene HOXA11 were changed from to 16765069; 11101832\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.654948Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GP9.\nMode of inheritance for gene GP9 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes BSS; 231200.BERNARD-SOULIER SYNDROME for gene: GP9\nPublications for gene GP9 were changed from to 24934643; 9616133; 21357716\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.585610Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GP6.\nMode of inheritance for gene GP6 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614201 Bleeding disorder, platelet-type, 11 for gene: GP6\nPublications for gene GP6 were changed from to 19552682; 19549989\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.513166Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GP1BB.\nMode of inheritance for gene GP1BB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB\nPublications for gene GP1BB were changed from to 24934643; 9616133; 21357716\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.443576Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GP1BA.\nMode of inheritance for gene GP1BA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BA\nPublications for gene GP1BA were changed from to 24934643; 9616133; 21357716\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.372124Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GNE.\nMode of inheritance for gene GNE was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes (NO OMIM NUMBER); Myopathy associated with thrombocytopenia for gene: GNE\nPublications for gene GNE were changed from to 27479822; 29941673; 30171045\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.301870Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GGCX.\nMode of inheritance for gene GGCX was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 277450 Vitamin K-dependent clotting factors, combined deficiency of, 1 for gene: GGCX\nPublications for gene GGCX were changed from to 25151188; 28679738; 21435120\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.231659Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GFI1B.\nMode of inheritance for gene GFI1B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 187900 Bleeding disorder, platelet-type, 17 for gene: GFI1B\nPublications for gene GFI1B were changed from to 23927492; 28041820\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.161360Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GBA.\nMode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA\nPublications for gene GBA were changed from to 27265538; 27816428; 20575041\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.089897Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GATA1.\nMode of inheritance for gene GATA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia for gene: GATA1\nPublications for gene GATA1 were changed from to 10700180; 23704091; 16103636\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:22.019745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to GALE.\nMode of inheritance for gene GALE was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes (NO OMIM OR DISEASE); Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE) for gene: GALE\nPublications for gene GALE were changed from to 30247636\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.940021Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FYB1.\nMode of inheritance for gene FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 273900 Thrombocytopenia 3 for gene: FYB1\nPublications for gene FYB1 were changed from to 25516138; 25876182\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.867728Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FLNA.\nMode of inheritance for gene FLNA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes (NO OMIM NUMBER); Macrothrombocytopenia for gene: FLNA\nPublications for gene FLNA were changed from to 29449050; 21960593\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.794350Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FLI1.\nMode of inheritance for gene FLI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes BDPLT21; 617443.BLEEDING DISORDER, PLATELET-TYPE, 21 for gene: FLI1\nPublications for gene FLI1 were changed from to 26316623; 24100448; 28255014\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.723855Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FGG.\nMode of inheritance for gene FGG was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGG\nPublications for gene FGG were changed from to 17295221; 30418131; 30349899\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.653283Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FGB.\nMode of inheritance for gene FGB was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 202400 Afibrinogenemia, congenital; 202400 Hypofibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital for gene: FGB\nPublications for gene FGB were changed from to 1565641; 12161363; 19404555\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.582827Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FGA.\nMode of inheritance for gene FGA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 202400 Afibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital for gene: FGA\nPublications for gene FGA were changed from to 18771425; 23061815; 25427968\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.509760Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to FERMT3.\nMode of inheritance for gene FERMT3 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 612840 Leukocyte integrin adhesion deficiency, type III for gene: FERMT3\nPublications for gene FERMT3 were changed from to 20357244; 20216991\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.433863Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F9.\nMode of inheritance for gene F9 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes 306900 Haemophilia B for gene: F9\nPublications for gene F9 were changed from to 7937052; 22103590; 15921378\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.358625Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F8.\nMode of inheritance for gene F8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nAdded phenotypes 306700 Haemophilia A for gene: F8\nPublications for gene F8 were changed from to 22103590; 11857744; 18217193\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.282893Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F7.\nMode of inheritance for gene F7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 227500 Factor VII deficiency for gene: F7\nPublications for gene F7 were changed from to 11129332; 21206266; 10862079\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.207239Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F5.\nMode of inheritance for gene F5 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 227400 Factor V deficiency; 188055 {Thrombophilia, susceptibility to, due to factor V Leiden}; 188055 Thrombophilia due to activated protein C resistance for gene: F5\nPublications for gene F5 were changed from to 19861681; 20546033; 19486170\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.132395Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F2R.\nMode of inheritance for gene F2R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes Type 1 VWD for gene: F2R\nPublications for gene F2R were changed from to 26630678\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:21.051759Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F13B.\nMode of inheritance for gene F13B was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 613235 Factor XIII deficiency for gene: F13B\nPublications for gene F13B were changed from to 11313256; 8324218; 20331752\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.967066Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F13A1.\nMode of inheritance for gene F13A1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 613225 Factor XIII deficiency for gene: F13A1\nPublications for gene F13A1 were changed from to 26852661; 28520207; 8555083\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.879165Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F12.\nMode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 234000 Factor XII deficiency; 610618 Hereditary Angioedema type III for gene: F12\nPublications for gene F12 were changed from to 9354665; 20386432; 27003566\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.792501Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F11.\nMode of inheritance for gene F11 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nAdded phenotypes 612416 Factor XI deficiency for gene: F11\nPublications for gene F11 were changed from to 16835901; 24112640; 29178608\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.707618Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to F10.\nMode of inheritance for gene F10 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 227600 Factor X deficiency for gene: F10\nPublications for gene F10 were changed from to 21854511; 20331754; 9198147\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.620451Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ETV6.\nMode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 616216 Thrombocytopenia 5 for gene: ETV6\nPublications for gene ETV6 were changed from to 27365488; 27663637; 28555414\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.542778Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to EPHB2.\nMode of inheritance for gene EPHB2 was changed from to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene EPHB2 were changed from to 30213874\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.463294Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ENG.\nMode of inheritance for gene ENG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 187300 Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG\nPublications for gene ENG were changed from to 7894484; 25970827; 30251589\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.392856Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DTNBP1.\nMode of inheritance for gene DTNBP1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614076 Hermansky-Pudlak syndrome 7 for gene: DTNBP1\nPublications for gene DTNBP1 were changed from to 12923531; 23364359; 28259707\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.322276Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to DIAPH1.\nMode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes (NO OMIM NUMBER); Macrothrombocytopenia and hearing loss for gene: DIAPH1\nPublications for gene DIAPH1 were changed from to 28815995; 26912466; 27707755\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.248803Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CYCS.\nMode of inheritance for gene CYCS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 612004 Thrombocytopenia 4 for gene: CYCS\nPublications for gene CYCS were changed from to 18345000; 27479822; 24326104\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.169048Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to COL5A2.\nMode of inheritance for gene COL5A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 130010 Ehlers-Danlos syndrome, classic type, 2 for gene: COL5A2\nPublications for gene COL5A2 were changed from to 15580559; :28485813; 25987251\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.089916Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to COL5A1.\nMode of inheritance for gene COL5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 130000 Ehlers-Danlos syndrome, classic type, 1 for gene: COL5A1\nPublications for gene COL5A1 were changed from to 22696272; 28485813; 23587214\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:20.018508Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to COL3A1.\nMode of inheritance for gene COL3A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 130050 Ehlers-Danlos syndrome, vascular type for gene: COL3A1\nPublications for gene COL3A1 were changed from to 22019127; 25758994; 22143279\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.937570Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to COL1A1.\nMode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 114000 Caffey disease; 130060 Ehlers-Danlos syndrome, arthrochalasia type, 1 for gene: COL1A1\nPublications for gene COL1A1 were changed from to 27011056\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.863086Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CHST14.\nMode of inheritance for gene CHST14 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 601776 Ehlers-Danlos syndrome, musculocontractural type 1 for gene: CHST14\nPublications for gene CHST14 were changed from to 20533528; 26373698; 25703627\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.782263Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to CDC42.\nMode of inheritance for gene CDC42 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 616737 Takenouchi-Kosaki syndrome for gene: CDC42\nPublications for gene CDC42 were changed from to 26708094; 26386261; 29394990\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.703524Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to BLOC1S6.\nMode of inheritance for gene BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614171 ?Hermansky-pudlak syndrome 9 for gene: BLOC1S6\nPublications for gene BLOC1S6 were changed from to 22461475; 29054114\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.624648Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to BLOC1S3.\nMode of inheritance for gene BLOC1S3 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 614077 Hermansky-Pudlak syndrome 8 for gene: BLOC1S3\nPublications for gene BLOC1S3 were changed from to 16385460; 22709368\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.549209Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ARPC1B.\nMode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 617718 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B\nPublications for gene ARPC1B were changed from to 29127144; 28368018\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.473530Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP3D1.\nMode of inheritance for gene AP3D1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 617050 ?Hermansky-Pudlak syndrome 10 for gene: AP3D1\nPublications for gene AP3D1 were changed from to 28936583; 26744459\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.393059Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to AP3B1.\nMode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 608233 Hermansky-Pudlak syndrome 2 for gene: AP3B1\nPublications for gene AP3B1 were changed from to 28585318; 23403622; 26684649\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.316491Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ANO6.\nMode of inheritance for gene ANO6 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 262890 Scott syndrome for gene: ANO6\nPublications for gene ANO6 were changed from to 21511967; 21107324; 27879994\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.228173Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ANKRD26.\nMode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 188000 Thrombocytopenia 2 for gene: ANKRD26\nPublications for gene ANKRD26 were changed from to 21467542; 24030261; 21211618\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.139095Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ADAMTS13.\nMode of inheritance for gene ADAMTS13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13\nPublications for gene ADAMTS13 were changed from to 15009458; 11586351; 12753286\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:19.065239Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACVRL1.\nMode of inheritance for gene ACVRL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes 600376 Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1\nPublications for gene ACVRL1 were changed from to 16752392; 25970827; 30251589\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:18.988102Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACTN1.\nMode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nAdded phenotypes 615193 Bleeding disorder, platelet-type, 15 for gene: ACTN1\nPublications for gene ACTN1 were changed from to 25361813; 23434115; 25949529\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:18.911408Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ACTB.\nMode of inheritance for gene ACTB was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes (NO OMIM NUMBER); AD thrombocytopenia for gene: ACTB\nPublications for gene ACTB were changed from to 30451859\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:18.838177Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABCG8.\nMode of inheritance for gene ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG8\nPublications for gene ABCG8 were changed from to 24166850; 27291889\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:07:18.759523Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.3",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Source Expert Review Green was added to ABCG5.\nMode of inheritance for gene ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes 210250 Sitosterolemia & Thrombocytopenia for gene: ABCG5\nPublications for gene ABCG5 were changed from to 30270055; 24623560; 27291889\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.941863Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: WAS was set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.893116Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VWF was added\ngene: VWF was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: VWF was set to ",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.842455Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: VPS33B was set to ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.794218Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VKORC1 was added\ngene: VKORC1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: VKORC1 was set to ",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.743880Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: VIPAS39 was added\ngene: VIPAS39 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: VIPAS39 was set to ",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.683262Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: UNC13D was added\ngene: UNC13D was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: UNC13D was set to ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.635774Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TUBB1 was added\ngene: TUBB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TUBB1 was set to ",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.586702Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TRPM7 was added\ngene: TRPM7 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TRPM7 was set to ",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.537117Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TPM4 was added\ngene: TPM4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TPM4 was set to ",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.489716Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: THPO was set to ",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.441253Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: THBD was added\ngene: THBD was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: THBD was set to ",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.394973Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TBXAS1 was set to ",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.349170Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: TBXA2R was added\ngene: TBXA2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: TBXA2R was set to ",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.303225Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: STXBP2 was added\ngene: STXBP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: STXBP2 was set to ",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.255888Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: STX11 was added\ngene: STX11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: STX11 was set to ",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.208949Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: STIM1 was set to ",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.165413Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SRC was added\ngene: SRC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SRC was set to ",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.121420Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SMAD4 was set to ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.077508Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLFN14 was added\ngene: SLFN14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SLFN14 was set to ",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:13.034715Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SLC45A2 was added\ngene: SLC45A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SLC45A2 was set to ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.991822Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: SERPINF2 was added\ngene: SERPINF2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: SERPINF2 was set to ",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.946162Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RUNX1 was added\ngene: RUNX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RUNX1 was set to ",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.888115Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RNU4ATAC was set to ",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.844520Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RGS2 was added\ngene: RGS2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RGS2 was set to ",
"entity_name": "RGS2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.803047Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RBM8A was set to ",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.760986Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: RASGRP2 was added\ngene: RASGRP2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: RASGRP2 was set to ",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.716889Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PTPRJ was added\ngene: PTPRJ was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: PTPRJ was set to ",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.672993Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: PTPN11 was set to ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.627784Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PTGS1 was added\ngene: PTGS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: PTGS1 was set to ",
"entity_name": "PTGS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.580942Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PRKACG was added\ngene: PRKACG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: PRKACG was set to ",
"entity_name": "PRKACG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.532293Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PLAU was added\ngene: PLAU was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: PLAU was set to ",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.487195Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: PLA2G4A was added\ngene: PLA2G4A was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: PLA2G4A was set to ",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.444032Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: P2RY12 was added\ngene: P2RY12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: P2RY12 was set to ",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.394797Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: P2RX1 was added\ngene: P2RX1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: P2RX1 was set to ",
"entity_name": "P2RX1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.344836Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NBEAL2 was added\ngene: NBEAL2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: NBEAL2 was set to ",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.295536Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: NBEA was added\ngene: NBEA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: NBEA was set to ",
"entity_name": "NBEA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.245326Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MYH9 was added\ngene: MYH9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MYH9 was set to ",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.194214Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MKL1 was added\ngene: MKL1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MKL1 was set to ",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.140677Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MPL was set to ",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.089909Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MPIG6B was added\ngene: MPIG6B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MPIG6B was set to ",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:12.044075Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MECOM was set to ",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.977622Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: MCFD2 was added\ngene: MCFD2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: MCFD2 was set to ",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.924132Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: LYST was set to ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.876720Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: LMAN1 was added\ngene: LMAN1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: LMAN1 was set to ",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.820243Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KNG1 was added\ngene: KNG1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: KNG1 was set to ",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.769531Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KLKB1 was added\ngene: KLKB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: KLKB1 was set to ",
"entity_name": "KLKB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.718815Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: KDSR was added\ngene: KDSR was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: KDSR was set to ",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.668745Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ITGB3 was added\ngene: ITGB3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ITGB3 was set to ",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.617323Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ITGA2B was added\ngene: ITGA2B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ITGA2B was set to ",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.568394Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ITGA2 was added\ngene: ITGA2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ITGA2 was set to ",
"entity_name": "ITGA2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.513977Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HPS6 was set to ",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.466781Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HPS5 was set to ",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.416820Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HPS4 was set to ",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.368897Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HPS3 was set to ",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.303772Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HPS1 was set to ",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.248346Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: HOXA11 was added\ngene: HOXA11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: HOXA11 was set to ",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.197204Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP9 was added\ngene: GP9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GP9 was set to ",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.145697Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP6 was added\ngene: GP6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GP6 was set to ",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.101856Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP1BB was added\ngene: GP1BB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GP1BB was set to ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.054649Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GP1BA was added\ngene: GP1BA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GP1BA was set to ",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:11.009281Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GNE was set to ",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.963404Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GGCX was added\ngene: GGCX was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GGCX was set to ",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.911539Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GFI1B was added\ngene: GFI1B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GFI1B was set to ",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.859529Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GBA was set to ",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.807204Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GATA1 was set to ",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.752284Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: GALE was added\ngene: GALE was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: GALE was set to ",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.696543Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FYB1 was added\ngene: FYB1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FYB1 was set to ",
"entity_name": "FYB1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.643371Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FLNA was set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.587521Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FLI1 was added\ngene: FLI1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FLI1 was set to ",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.534248Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FGG was added\ngene: FGG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FGG was set to ",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.485607Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FGB was added\ngene: FGB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FGB was set to ",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.435620Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FGA was added\ngene: FGA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FGA was set to ",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.388282Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: FERMT3 was added\ngene: FERMT3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: FERMT3 was set to ",
"entity_name": "FERMT3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.337519Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F9 was added\ngene: F9 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F9 was set to ",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.287280Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F8 was added\ngene: F8 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F8 was set to ",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.235043Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F7 was added\ngene: F7 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F7 was set to ",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.183117Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F5 was added\ngene: F5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F5 was set to ",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.135576Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F2R was added\ngene: F2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F2R was set to ",
"entity_name": "F2R",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.085177Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F13B was added\ngene: F13B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F13B was set to ",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:10.032014Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F13A1 was added\ngene: F13A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F13A1 was set to ",
"entity_name": "F13A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.976171Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F12 was added\ngene: F12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F12 was set to ",
"entity_name": "F12",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.926074Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F11 was added\ngene: F11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F11 was set to ",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.876700Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: F10 was added\ngene: F10 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: F10 was set to ",
"entity_name": "F10",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.826007Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ETV6 was added\ngene: ETV6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ETV6 was set to ",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.774811Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: EPHB2 was added\ngene: EPHB2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: EPHB2 was set to ",
"entity_name": "EPHB2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.725357Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ENG was set to ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.676035Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DTNBP1 was added\ngene: DTNBP1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: DTNBP1 was set to ",
"entity_name": "DTNBP1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.629909Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: DIAPH1 was set to ",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.589637Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CYCS was added\ngene: CYCS was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CYCS was set to ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.542121Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: COL5A2 was added\ngene: COL5A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: COL5A2 was set to ",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.502122Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: COL5A1 was added\ngene: COL5A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: COL5A1 was set to ",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.461928Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: COL3A1 was set to ",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.420352Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: COL1A1 was added\ngene: COL1A1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: COL1A1 was set to ",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.373442Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CHST14 was added\ngene: CHST14 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CHST14 was set to ",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.324057Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: CDC42 was added\ngene: CDC42 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: CDC42 was set to ",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.277830Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: BLOC1S6 was added\ngene: BLOC1S6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: BLOC1S6 was set to ",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.236703Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: BLOC1S3 was added\ngene: BLOC1S3 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: BLOC1S3 was set to ",
"entity_name": "BLOC1S3",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.190058Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ARPC1B was added\ngene: ARPC1B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ARPC1B was set to ",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.146653Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: AP3D1 was set to ",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.107293Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: AP3B1 was set to ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.064131Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ANO6 was added\ngene: ANO6 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ANO6 was set to ",
"entity_name": "ANO6",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:09.027873Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ANKRD26 was set to ",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:08.986703Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ADAMTS13 was set to ",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:08.948586Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ACVRL1 was set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:08.906741Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACTN1 was added\ngene: ACTN1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ACTN1 was set to ",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:08.869774Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ACTB was set to ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:08.833936Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ABCG8 was added\ngene: ABCG8 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ABCG8 was set to ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2019-02-05T11:06:08.788435Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.2",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "gene: ABCG5 was added\ngene: ABCG5 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH\nMode of inheritance for gene: ABCG5 was set to ",
"entity_name": "ABCG5",
"entity_type": "gene"
},
{
"created": "2018-11-16T12:58:33.106522Z",
"panel_name": "Bleeding and platelet disorders",
"panel_id": 545,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Bleeding and platelet disorders\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]