{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=789","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}