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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1670",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1668",
"results": [
{
"created": "2020-08-16T17:57:02.370151+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THPO were set to 9425899; 10583217\nPhenotypes for gene: THPO were set to Thrombocythemia 1, MIM#\t187950\nReview for gene: THPO was set to GREEN\nAdded comment: Both thrombotic and bleeding episodes described with this platelet disorder. \nSources: Expert list",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:53:15.938105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:52:52.304341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THBD were set to 29500241; 19625716",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:52:24.143926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THBD: Added comment: Variants in this gene have also been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.; Changed publications: 29500241, 19625716, 25564403, 32634856; Changed phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926, Bleeding disorder",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:51:13.826871+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THBD as ready",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:51:13.815765+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbd has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:51:08.322839+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THBD as Amber List (moderate evidence)",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:51:08.312956+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thbd has been classified as Amber List (Moderate Evidence).",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:50:41.795589+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBD was added\ngene: THBD was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THBD were set to 25564403; 32634856\nPhenotypes for gene: THBD were set to Bleeding disorder\nReview for gene: THBD was set to AMBER\nAdded comment: Variants in this gene have been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain. \nSources: Expert list",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:42:26.958396+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:42:26.947919+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:42:24.227018+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:42:01.042878+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:41:33.151755+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:40:52.526489+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:40:52.516277+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:40:39.514220+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:40:15.731793+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:39:48.885459+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:39:10.064195+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB3 as ready",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:39:10.044754+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:39:07.119663+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:38:37.722899+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:38:05.241363+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:35:13.316642+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB2 as ready",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:35:13.306430+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb2 has been classified as Green List (High Evidence).",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:35:04.640063+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:34:31.886994+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:34:03.763465+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:33:16.312344+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXAS1 as ready",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T17:33:16.302942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T16:03:08.644870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBXAS1 were changed from to Ghosal hematodiaphyseal syndrome, MIM# 231095",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T16:00:30.413150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBXAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T16:00:13.213700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18264100; Phenotypes: Ghosal hematodiaphyseal syndrome, MIM# 231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:59:33.919751+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXAS1 as ready",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:59:33.909512+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:59:28.418969+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBXAS1 as Green List (high evidence)",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:59:28.409407+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxas1 has been classified as Green List (High Evidence).",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:59:01.430810+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBXAS1 were set to 18264100\nPhenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM#\t231095\nReview for gene: TBXAS1 was set to GREEN\nAdded comment: Thrombocytopaenia is a feature of this condition. \nSources: Expert list",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:48:01.473995+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:48:01.462573+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:47:57.099457+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STIM1 as Green List (high evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:47:57.089310+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:47:32.125626+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STIM1 were set to Stormorken syndrome, MIM#\t185070\nReview for gene: STIM1 was set to GREEN\nAdded comment: Well established gene-disease association, mild bleeding tendency due to platelet dysfunction and thrombocytopaenia. \nSources: Expert list",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:44:36.390759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRC as ready",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:44:36.380722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: src has been classified as Green List (High Evidence).",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:44:28.351737+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRC as Green List (high evidence)",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:44:28.333787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: src has been classified as Green List (High Evidence).",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:44:14.572192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRC was added\ngene: SRC was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRC were set to 31204551; 26936507\nPhenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM#\t616937\nReview for gene: SRC was set to GREEN\nAdded comment: Two families, and convincing functional data including animal model. \nSources: Expert list",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:42:42.431006+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRC as ready",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:42:42.419041+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: src has been classified as Green List (High Evidence).",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:42:38.942000+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRC as Green List (high evidence)",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:42:38.933652+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: src has been classified as Green List (High Evidence).",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:42:18.041585+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRC was added\ngene: SRC was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRC were set to 31204551; 26936507\nPhenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM#\t616937\nReview for gene: SRC was set to GREEN\nAdded comment: Two families, and convincing functional data including animal model. \nSources: Expert list",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:36:22.519961+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:36:22.511318+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:36:19.778307+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:35:58.354644+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD4 were set to ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:35:32.517099+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:35:08.092953+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050, Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:33:09.971657+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:33:09.963923+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:33:07.681884+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:32:41.476437+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:32:14.399545+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:30:38.779311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLFN14 as ready",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:30:38.771388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slfn14 has been classified as Green List (High Evidence).",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:30:30.763369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLFN14 as Green List (high evidence)",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:30:30.753012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slfn14 has been classified as Green List (High Evidence).",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:30:15.402160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLFN14 was added\ngene: SLFN14 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLFN14 were set to 26280575; 26769223\nPhenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM#\t616913\nReview for gene: SLFN14 was set to GREEN\nAdded comment: At least four unrelated families reported. \nSources: Expert list",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:28:28.445633+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLFN14 as ready",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:28:28.434536+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slfn14 has been classified as Green List (High Evidence).",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:28:21.657268+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLFN14 as Green List (high evidence)",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:28:21.643755+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slfn14 has been classified as Green List (High Evidence).",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:27:59.367415+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLFN14 was added\ngene: SLFN14 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLFN14 were set to 26280575; 26769223\nPhenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM#\t616913\nReview for gene: SLFN14 was set to GREEN\nAdded comment: At least four unrelated families reported. \nSources: Expert list",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:24:47.098719+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:24:47.089084+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:24:44.347044+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:24:20.908241+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:23:58.197801+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:22:32.800553+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SKI as ready",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:22:32.790614+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ski has been classified as Green List (High Evidence).",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:22:30.386928+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:22:06.431951+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:21:37.569124+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:20:22.610432+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX1 as ready",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:20:22.602126+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:20:16.280447+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RUNX1 as Green List (high evidence)",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:20:16.268520+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx1 has been classified as Green List (High Evidence).",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:19:48.210621+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RUNX1 was added\ngene: RUNX1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RUNX1 were set to 10508512\nPhenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM#\t601399\nReview for gene: RUNX1 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:14:59.125639+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM8A as ready",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:14:59.115841+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Green List (High Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:14:55.134454+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM8A as Green List (high evidence)",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:14:55.125513+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm8a has been classified as Green List (High Evidence).",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-08-16T15:14:31.863540+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM#\t274000\nReview for gene: RBM8A was set to GREEN\nAdded comment: Note common deletion on chromosome 1q21.1 is usually involved. \nSources: Expert list",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-08-16T13:55:36.554530+10:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopaenia",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2020-08-16T13:55:18.546496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPRJ as ready",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2020-08-16T13:55:18.537535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptprj has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2020-08-16T13:55:09.533750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPRJ as Amber List (moderate evidence)",
"entity_name": "PTPRJ",
"entity_type": "gene"
},
{
"created": "2020-08-16T13:55:09.525336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptprj has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPRJ",
"entity_type": "gene"
}
]
}