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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1814",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1812",
"results": [
{
"created": "2020-05-01T10:14:29.942742+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:14:22.695083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNK2 were changed from to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:14:02.268450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNK2 were set to ",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:13:42.865394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:13:16.230402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNK2 as Amber List (moderate evidence)",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:13:16.219471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:02:10.789723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B2 as ready",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:02:10.780748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:01:51.357042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B2 was added\ngene: MAN2B2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B2 were set to 31775018\nPhenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency\nReview for gene: MAN2B2 was set to RED\nAdded comment: Single individual reported. \nSources: Literature",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:00:36.246246+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B2 as ready",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2020-05-01T10:00:36.237508+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b2 has been classified as Red List (Low Evidence).",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:38:31.016055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2680",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 27977884, 23686771, 31517310; Phenotypes: late onset infantile epilepsy, Mayer-Rokitansky-Küster-Hauser syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNK2",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:31:22.508914+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B2 was added\ngene: MAN2B2 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAN2B2 were set to 31775018\nPhenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency\nReview for gene: MAN2B2 was set to RED\nAdded comment: Single individual reported. \nSources: Literature",
"entity_name": "MAN2B2",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:07:10.249370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK1 as ready",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:07:10.240239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:07:02.797518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIPK1 were changed from to Immunodeficiency 57, MIM#618108",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:06:42.879393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPK1 were set to ",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:06:23.032574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:05:37.372336+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316, 30591564, 31213653, 31827280; Phenotypes: Immunodeficiency 57, MIM#618108; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T09:05:07.791877+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; to: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:55:45.966559+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIPK1 were set to 30026316",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:42:57.107919+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIPK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:42:20.462052+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIPK1: Added comment: Two families reported with mono-allelic variants and an auto inflammatory syndrome, PMID 31827280; Changed publications: 30026316, 30591564, 31213653, 31827280; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:40:21.047755+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPK1 as ready",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:40:21.038600+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:40:17.018480+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPK1 as Green List (high evidence)",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:40:17.006092+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripk1 has been classified as Green List (High Evidence).",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:39:46.809478+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPK1 was added\ngene: RIPK1 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK1 were set to 30026316; 30591564; 31213653\nPhenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108\nReview for gene: RIPK1 was set to GREEN\nAdded comment: Ten families reported, inflammatory bowel disease/enteropathy is a common feature of this immune dysregulation syndrome. \nSources: Literature",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:37:54.681332+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIPK1: Added comment: Seven further families reported, inflammatory bowel disease/enteropathy common features.; Changed publications: 30026316, 30591564, 31213653",
"entity_name": "RIPK1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:33:45.286128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CG as ready",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:33:45.272427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cg has been classified as Green List (High Evidence).",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:31:53.385284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CG as Green List (high evidence)",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:31:53.376327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cg has been classified as Green List (High Evidence).",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:31:33.023688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CG was added\ngene: PIK3CG was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3CG were set to 32001535; 31554793\nPhenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis\nReview for gene: PIK3CG was set to GREEN\nAdded comment: Two individuals with complex immunological phenotypes reported and a mouse model. \nSources: Literature",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:29:04.423168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RC3H1 as ready",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:29:04.410874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:28:55.624352+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CG as ready",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:28:55.614241+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cg has been classified as Green List (High Evidence).",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:28:50.524433+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3CG as Green List (high evidence)",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:28:50.515844+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cg has been classified as Green List (High Evidence).",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:28:20.155484+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CG was added\ngene: PIK3CG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIK3CG were set to 32001535; 31554793\nPhenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis\nReview for gene: PIK3CG was set to GREEN\nAdded comment: Two individuals with complex immunological phenotypes reported and a mouse model. \nSources: Literature",
"entity_name": "PIK3CG",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:22:07.757426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RC3H1 as Amber List (moderate evidence)",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:22:07.746077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:22:07.707779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RC3H1 as Amber List (moderate evidence)",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:22:07.695715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:21:34.643026+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RC3H1 as Amber List (moderate evidence)",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:21:34.634113+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:20:08.342293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data. \nSources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.\r\nSources: Literature",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:19:51.508849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:19:38.645493+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data. \nSources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.\r\nSources: Literature",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:19:27.523206+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:18:41.657411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RC3H1 was added\ngene: RC3H1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RC3H1 were set to 31636267\nPhenotypes for gene: RC3H1 were set to Relapsing HLH\nReview for gene: RC3H1 was set to RED\nAdded comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data. \nSources: Literature",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:16:04.680026+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RC3H1 as ready",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:16:04.670290+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rc3h1 has been classified as Red List (Low Evidence).",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-05-01T08:15:56.300042+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RC3H1 was added\ngene: RC3H1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RC3H1 were set to 31636267\nPhenotypes for gene: RC3H1 were set to Relapsing HLH\nReview for gene: RC3H1 was set to RED\nAdded comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data. \nSources: Literature",
"entity_name": "RC3H1",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:44:39.312814+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CCM2 as ready",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:44:39.300018+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccm2 has been classified as Green List (High Evidence).",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:44:33.137402+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CCM2 as Green List (high evidence)",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:44:33.125571+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ccm2 has been classified as Green List (High Evidence).",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:44:17.680564+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCM2 was added\ngene: CCM2 was added to Stroke. Sources: Literature\nMode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCM2 were set to 14624391; 18779516; 30356112\nPhenotypes for gene: CCM2 were set to Cerebral cavernous malformations-2 MIM#603284\nReview for gene: CCM2 was set to GREEN\nAdded comment: Cases reported with intracerebral bleeding and cavernoma stroke subtypes. \nSources: Literature",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:20:59.834658+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADAMTS13 as ready",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:20:59.822466+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:20:55.046789+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADAMTS13 as Green List (high evidence)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:20:55.038185+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adamts13 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:20:13.605204+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Stroke. Sources: Literature\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS13 were set to 32103696; 31585956; 30930238; 28591212\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary MIM#274150\nReview for gene: ADAMTS13 was set to GREEN\nAdded comment: Strokes reported in at least 7 cases with the condition. \nSources: Literature",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:01:59.823326+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACTA2 as Green List (high evidence)",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:01:59.814612+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-04-30T19:01:30.799870+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to Stroke. Sources: Literature\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTA2 were set to 20734336; 19409525; 30356112\nPhenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome MIM#613834\nReview for gene: ACTA2 was set to GREEN\nAdded comment: Condition reported with large artery atherosclerosis/non-atherosclerosis, small vessel disease, and cardio embolism due to morphologic defect stroke subtypes. \nSources: Literature",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:51:23.831349+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCA1 as Green List (high evidence)",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:51:23.819055+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abca1 has been classified as Green List (High Evidence).",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:51:10.201156+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCA1 was added\ngene: ABCA1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCA1 were set to 30356112; 22913675; 30278532; 31487778\nPhenotypes for gene: ABCA1 were set to Tangier disease MIM#205400\nReview for gene: ABCA1 was set to GREEN\nAdded comment: Cases have been reported with large artery atherosclerosis, cardio embolism due to cardiomyopathy, intracerebral bleeding, and bleeding tendency stroke subtypes. Also a hamster model with ischemic stroke. \nSources: Literature",
"entity_name": "ABCA1",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:38:02.784260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNG as ready",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:38:02.770465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifng has been classified as Red List (Low Evidence).",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:37:52.796570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNG were changed from to Mendelian susceptibility to mycobacterial disease",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:37:10.068142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNG were set to ",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:36:44.138804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:36:22.764763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNG as Red List (low evidence)",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:36:22.749991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifng has been classified as Red List (Low Evidence).",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T18:35:41.508948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFNG: Rating: RED; Mode of pathogenicity: None; Publications: 32163377; Phenotypes: Mendelian susceptibility to mycobacterial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:54:05.689551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITPKB was added\ngene: ITPKB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITPKB were set to 31987846\nPhenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells\nReview for gene: ITPKB was set to RED\nAdded comment: Single individual with homozygous bi-allelic LoF variant reported. \nSources: Literature",
"entity_name": "ITPKB",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:52:15.274097+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPKB as ready",
"entity_name": "ITPKB",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:52:15.261233+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpkb has been classified as Red List (Low Evidence).",
"entity_name": "ITPKB",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:52:09.610447+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPKB were set to ",
"entity_name": "ITPKB",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:51:34.249973+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITPKB: Changed publications: 31987846",
"entity_name": "ITPKB",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:51:24.244621+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITPKB was added\ngene: ITPKB was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature\nMode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells\nReview for gene: ITPKB was set to RED\nAdded comment: Single individual with homozygous bi-allelic LoF variant reported. \nSources: Literature",
"entity_name": "ITPKB",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:46:49.302440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMB10 as ready",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:46:49.293350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb10 has been classified as Red List (Low Evidence).",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:46:32.055423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMB10 was added\ngene: PSMB10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB10 were set to 31783057\nPhenotypes for gene: PSMB10 were set to Autoinflammatory syndrome\nReview for gene: PSMB10 was set to RED\nAdded comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported. \nSources: Literature",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:44:16.410621+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMB10 as ready",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:44:16.401825+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb10 has been classified as Red List (Low Evidence).",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:44:08.698521+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMB10 was added\ngene: PSMB10 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB10 were set to 31783057\nPhenotypes for gene: PSMB10 were set to Autoinflammatory syndrome\nReview for gene: PSMB10 was set to RED\nAdded comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported. \nSources: Literature",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:34:26.256891+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDC42 were set to 31601675; 32303876",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:33:51.474901+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDC42: Changed publications: 31601675, 32303876, 32231661",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:33:19.183975+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM#\t616737 \nSources: Literature; to: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Yet another individual in PMID 32231661 with different de novo variant, p.Cys81Tyr who in addition developed haematological malignancy and also had syndromic features, including ID. Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM#\t616737 \r\nSources: Literature",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:31:30.888954+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC42 as ready",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:31:30.875636+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc42 has been classified as Green List (High Evidence).",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:29:18.636315+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC42 as Green List (high evidence)",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:29:18.627794+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc42 has been classified as Green List (High Evidence).",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:28:43.272660+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC42 was added\ngene: CDC42 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC42 were set to 31601675; 32303876\nPhenotypes for gene: CDC42 were set to Neonatal-onset cytopaenia with dyshaematopoiesis; autoinflammation; rash; HLH\nReview for gene: CDC42 was set to GREEN\nAdded comment: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM#\t616737 \nSources: Literature",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:19:36.842728+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT2 as ready",
"entity_name": "STAT2",
"entity_type": "gene"
}
]
}