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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=789",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=787",
"results": [
{
"created": "2022-07-26T16:02:26.509265+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARFGEF1: Changed phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964",
"entity_name": "ARFGEF1",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:02:08.811658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964",
"entity_name": "ARFGEF1",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:01:47.655591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARFGEF1: Changed phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964",
"entity_name": "ARFGEF1",
"entity_type": "gene"
},
{
"created": "2022-07-26T16:00:41.021433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAK2 were changed from Knobloch 2 syndrome to Knobloch 2 syndrome, MIM#618458",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2022-07-26T15:57:20.837186+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to 19668216; 32139166; 29230161; 29052317; 27998989; 27401686; 19668215",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2022-07-26T15:56:56.836190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: INPP5E: Added comment: Additional MORM family reported in PMID 34211432, hmz LoF.; Changed publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215, 34211432",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2022-07-26T15:52:14.847393+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.147",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: IKZF1 was added\ngene: IKZF1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF1 were set to PMID: 35333544\nPhenotypes for gene: IKZF1 were set to Immune dysregulation\nMode of pathogenicity for gene: IKZF1 was set to Other\nReview for gene: IKZF1 was set to GREEN\nAdded comment: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation. \nSources: Literature",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2022-07-26T15:47:04.473291+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.156",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: TBK1 was added\ngene: TBK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: TBK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBK1 were set to PMID: 34363755\nPhenotypes for gene: TBK1 were set to Autoinflammation\nReview for gene: TBK1 was set to GREEN\nAdded comment: 4 individuals from 3 unrelated families with biallelic LOF mutations with early onset autoinflammatory syndrome without susceptibility to viral infection. \nSources: Literature",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2022-07-26T15:30:49.027413+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.147",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: IKZF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34826259; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IKZF2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:45:22.449441+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL1 as ready",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:45:22.440976+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Red List (Low Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:45:17.361170+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL1 as Red List (low evidence)",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:45:17.350663+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal1 has been classified as Red List (Low Evidence).",
"entity_name": "HYAL1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:44:23.343165+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HOGA1.",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:55.685897+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGD as ready",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:55.676251+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgd has been classified as Red List (Low Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:50.191737+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HGD as Red List (low evidence)",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:50.175156+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgd has been classified as Red List (Low Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:06.517394+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE as ready",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:06.504549+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe has been classified as Red List (Low Evidence).",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:01.695296+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HFE as Red List (low evidence)",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:43:01.676119+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe has been classified as Red List (Low Evidence).",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:42:32.787313+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HBA2.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:41:52.703775+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:41:23.048263+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GRHPR.",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:40:48.901467+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GP9.",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:40:24.677393+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GP1BA.",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:39:55.083027+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJB2 as ready",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:39:55.042737+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb2 has been classified as Red List (Low Evidence).",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:39:42.775830+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJB2 as Red List (low evidence)",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:39:42.761716+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjb2 has been classified as Red List (Low Evidence).",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:39:32.970651+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GJB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:38:53.566775+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GJB1.",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:38:15.205655+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GALK1.",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:37:49.121075+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: G6PD.",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:37:21.817106+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: F11.",
"entity_name": "F11",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:29:56.824916+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTA1 as ready",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:29:56.805132+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Green List (High Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:51.056973+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTA1 were set to 34132406; 35483216; 31333484; 29594000",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:21.604136+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTA1 as ready",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:21.595508+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Green List (High Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:15.768223+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTA1 as Green List (high evidence)",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:15.759887+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Green List (High Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:04.298942+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTA1 were set to 34132406",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:28:04.003522+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTA1 was added\ngene: SPTA1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTA1 were set to 34132406; 35483216; 31333484; 29594000\nPhenotypes for gene: SPTA1 were set to Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; pyropoikilocytosis #266140\nReview for gene: SPTA1 was set to GREEN\nAdded comment: Severe presentations with hydrops reported. \nSources: Expert Review",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:27:36.644846+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:26:32.709508+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTA1 as Green List (high evidence)",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:26:32.700673+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spta1 has been classified as Green List (High Evidence).",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:26:08.027532+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35483216, 31333484, 29594000; Phenotypes: Spherocytosis type 3 #270970, Elliptocytosis-2 #130600, Pyropoikilocytosis #266140; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:23:51.669486+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDN as ready",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:23:51.661119+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:23:28.209968+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLDN as Amber List (moderate evidence)",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:23:28.198788+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:22:54.100646+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: None; Publications: 35806855; Phenotypes: Lethal congenital contracture syndrome 11, MIM# 617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:20:54.677482+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: EYS.",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:20:27.929604+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOK7 were set to 31880392; 19261599",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:20:00.880793+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOK7 as Green List (high evidence)",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:20:00.868977+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dok7 has been classified as Green List (High Evidence).",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:19:33.605960+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DOK7: Added comment: Upgrade to Green with additional families published (founder variant).; Changed rating: GREEN; Changed publications: 31880392, 19261599, 34132406",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:18:19.974770+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CYP21A2.",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:17:51.311539+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: ATXN1_CAG as ready",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-07-26T14:17:51.298433+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-07-26T14:17:02.894183+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified STR: ATXN1_CAG as Green List (high evidence)",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-07-26T14:17:02.879803+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: atxn1_cag has been classified as Green List (High Evidence).",
"entity_name": "ATXN1_CAG",
"entity_type": "str"
},
{
"created": "2022-07-26T14:16:03.716230+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KYNU as ready",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:16:03.702798+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:16:00.861355+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KYNU were changed from MIM# 617661 Vertebral, cardiac, renal, and limb defects syndrome 2 to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM# 617661",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:15:33.234540+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KYNU as Green List (high evidence)",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:15:33.223242+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:14:41.654336+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDR as ready",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:14:41.644784+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Red List (Low Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:14:38.311396+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDR were changed from Tetralogy of Fallot to Tetralogy of Fallot, MONDO:0008542",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:14:19.814695+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:13:56.029132+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDR as Red List (low evidence)",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:13:56.020253+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdr has been classified as Red List (Low Evidence).",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:13:28.826556+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tetralogy of Fallot, MONDO:0008542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:11:17.022060+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC8 as ready",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:11:17.013155+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:11:06.870532+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC8 were changed from MIM# 300882 Cornelia de Lange syndrome 5 to Cornelia de Lange syndrome 5, MIM# 300882",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:10:13.126878+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HDAC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:09:44.928856+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:09:08.395906+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC8 as Green List (high evidence)",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:09:08.386895+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac8 has been classified as Green List (High Evidence).",
"entity_name": "HDAC8",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:07:47.172507+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:07:47.163325+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:07:43.320842+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAAO were changed from Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#\t617660; Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:06:56.565492+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAAO as Green List (high evidence)",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:06:56.557549+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:06:13.824160+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:06:13.815029+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:06:11.326814+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLI3 were changed from ASD, VSD, AVSD, aortic arch anomaly, PDA to Pallister-Hall syndrome, MIM# 146510; ASD, VSD, AVSD, aortic arch anomaly, PDA",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:05:13.389918+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GLI3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:04:43.232223+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Green List (high evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:04:43.219446+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:04:16.371761+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:02:13.126780+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP1 as ready",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:02:13.114143+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:02:10.797814+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP1 were changed from Atrial septal defect; Atrioventricular septal defect; Patent ductus arteriosus; Pulmonic stenosis; Hypoplastic left heart syndrome to Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670; Atrial septal defect; Atrioventricular septal defect; Patent ductus arteriosus; Pulmonic stenosis; Hypoplastic left heart syndrome",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:01:36.309864+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP1 as Amber List (moderate evidence)",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2022-07-26T14:01:36.298581+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXP1",
"entity_type": "gene"
}
]
}