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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1876",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1874",
"results": [
{
"created": "2020-04-09T11:39:12.170748+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:38:44.106429+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Red List (low evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:38:44.097482+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Red List (Low Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:38:14.780061+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:26:10.901282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:25:04.797805+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL10 as ready",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:25:04.788608+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl10 has been classified as Green List (High Evidence).",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:24:55.893580+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCL10 were changed from to Immunodeficiency 37, MIM# 616098",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:24:23.096652+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL10 were set to ",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:23:59.663478+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:23:00.959277+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCL10",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:20:24.446478+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27640307, 28652416; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:10:05.463055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:09:48.131227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:09:33.077070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOL1 were set to ",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:09:13.187286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOL1 as Red List (low evidence)",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:09:13.173924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apol1 has been classified as Red List (Low Evidence).",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:08:52.740203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556, 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:02:02.461220+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOL1 as ready",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:02:02.452734+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apol1 has been classified as Red List (Low Evidence).",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:01:55.722210+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T11:00:31.681879+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:54:49.024332+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:54:21.828084+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APOL1 as Red List (low evidence)",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:54:21.814810+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apol1 has been classified as Red List (Low Evidence).",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:53:50.102980+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:50:36.328144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S3 as ready",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:50:36.314990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:50:21.568928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:50:07.624916+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S3 were set to ",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:49:46.153133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:49:27.302892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1S3 as Amber List (moderate evidence)",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:49:27.293715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:49:06.305740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:48:17.053245+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP1S3 as ready",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:48:17.044406+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:48:10.467604+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:47:48.999449+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S3 were set to 24791904; 27388993",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:47:27.863594+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP1S3 were set to ",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:47:03.492232+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:46:39.449477+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP1S3 as Amber List (moderate evidence)",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:46:39.436754+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap1s3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:46:11.017865+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP1S3",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:37:57.318781+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM17 as ready",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:37:57.309935+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Green List (High Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:37:54.512571+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM17 as Green List (high evidence)",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:37:54.498887+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Green List (High Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:37:25.823971+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAM17 was added\ngene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906\nPhenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections\nReview for gene: ADAM17 was set to GREEN\nAdded comment: Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model. \nSources: Expert Review",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:29:37.110444+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM17 as ready",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:29:37.101595+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam17 has been classified as Green List (High Evidence).",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:28:28.334169+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:27:46.462182+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAM17 were set to ",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:27:20.484604+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:26:49.226765+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:13:35.994853+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:13:35.978392+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:13:32.876817+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:13:08.310522+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:12:10.647506+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTB as Amber List (moderate evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:12:10.637436+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-09T10:11:38.968522+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-04-08T13:30:47.585738+10:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-08T08:27:34.671886+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Hereditary Spastic Paraplegia - paediatric_RMH to Hereditary Spastic Paraplegia - paediatric\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-08T08:25:17.826601+10:00",
"panel_name": "Visceral Myopathy",
"panel_id": 3087,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Visceral Myopathy_RMH to Visceral Myopathy\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-08T08:10:49.484837+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Congenital Stationary Night Blindness_RMH to Congenital Stationary Night Blindness",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-07T20:50:32.592705+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM70 as ready",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:50:32.579223+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:50:22.757713+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM70 as Amber List (moderate evidence)",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:50:22.749256+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:49:51.096977+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM70 was added\ngene: TMEM70 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM70 were set to 21147908; 23235116; 27454254\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052\nReview for gene: TMEM70 was set to AMBER\nAdded comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition. \nSources: Expert list",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:43:35.550193+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:43:35.537113+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:43:32.452463+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFTR as Green List (high evidence)",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:43:32.443678+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:43:02.760115+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, MIM#\t219700\nReview for gene: CFTR was set to GREEN\nAdded comment: Although CF is mostly detected through newborn screening, some adults with milder phenotypes can present with recurrent respiratory infections. \nSources: Expert list",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:30:14.124394+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-07T20:26:57.783275+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTC37 as ready",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:26:57.770108+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Red List (Low Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:26:51.536281+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTC37 as Red List (low evidence)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:26:51.522174+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttc37 has been classified as Red List (Low Evidence).",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:26:22.051291+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:25:46.466547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNT2 were changed from Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy; Epilepsy of infancy with migrating focal seizures (EIMFS)",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:25:22.375309+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNT2 were set to 29069600; 29740868",
"entity_name": "KCNT2",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:24:16.425729+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH2A as ready",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:24:16.417428+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush2a has been classified as Green List (High Evidence).",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:24:05.194645+10:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH2A were set to ",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:18:30.835199+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:18:30.825878+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: was has been classified as Red List (Low Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:18:19.496757+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WAS as Red List (low evidence)",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:18:19.488185+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: was has been classified as Red List (Low Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-04-07T20:17:50.179286+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:59:09.487597+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: XIAP as ready",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:59:09.478763+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xiap has been classified as Red List (Low Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:59:05.511724+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: XIAP as Red List (low evidence)",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:59:05.498699+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xiap has been classified as Red List (Low Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:58:34.496854+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: XIAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:54:40.592922+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ZAP70 as ready",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:54:40.584006+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Red List (Low Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:54:29.535830+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZAP70 as Red List (low evidence)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-04-07T19:54:29.521883+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Red List (Low Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
}
]
}