{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1925","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1923","results":[{"created":"2020-02-19T18:25:37.526238+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh23 has been classified as Green List (High Evidence).","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:25:33.412903+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH23 were changed from  to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:23:25.370441+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH23 were set to ","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:22:58.772897+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:22:29.087599+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:17:08.434574+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH23 as ready","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:17:08.425822+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh23 has been classified as Green List (High Evidence).","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:16:54.424259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH23 were changed from  to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067)","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:16:29.805634+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH23 were set to ","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T18:16:12.408346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T13:03:51.555678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: None; Current diagnostic: yes","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-02-19T11:32:54.516790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930), Retinitis pigmentosa 73 (MIM # 616544); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2020-02-19T10:47:56.217532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PNKP","entity_type":"gene"},{"created":"2020-02-19T10:35:02.759005+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH5","entity_type":"gene"},{"created":"2020-02-19T10:11:08.595769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-02-19T09:11:48.461277+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNNB1 as ready","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-02-19T09:11:48.447341+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-02-19T09:11:43.367262+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNNB1 as Green List (high evidence)","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-02-19T09:11:43.353165+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctnnb1 has been classified as Green List (High Evidence).","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-02-19T09:11:12.419953+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTNNB1 was added\ngene: CTNNB1 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects\t, MIM#615075\nReview for gene: CTNNB1 was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"CTNNB1","entity_type":"gene"},{"created":"2020-02-18T18:57:58.019695+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A24 as ready","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:57:58.010391+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a24 has been classified as Red List (Low Evidence).","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:57:50.359824+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A24 were changed from  to Fontaine progeroid syndrome, MIM#612289","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:57:16.647010+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2205","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:56:44.734799+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2204","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A24 as Red List (low evidence)","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:56:44.726025+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a24 has been classified as Red List (Low Evidence).","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:56:14.392347+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2203","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC25A24","entity_type":"gene"},{"created":"2020-02-18T18:53:52.818018+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2203","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A19 as Red List (low evidence)","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2020-02-18T18:53:52.809008+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a19 has been classified as Red List (Low Evidence).","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2020-02-18T18:53:20.513272+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2202","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype through to a neuropathy.; to: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype (founder effect) through to a neuropathy/disorder of episodic encephalopathy.","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2020-02-18T18:52:40.361030+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2202","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A19: Changed rating: RED","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2020-02-18T18:47:45.997072+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A2 as ready","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2020-02-18T18:47:45.983794+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a2 has been classified as Green List (High Evidence).","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2020-02-18T18:47:37.317249+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2202","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A2 as Green List (high evidence)","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2020-02-18T18:47:37.303638+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a2 has been classified as Green List (High Evidence).","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2020-02-18T18:47:04.300829+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2201","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC1A2 was added\ngene: SLC1A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A2 were set to 27476654; 28777935\nPhenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41, MIM#617105; Intellectual disability\nReview for gene: SLC1A2 was set to GREEN\ngene: SLC1A2 was marked as current diagnostic\nAdded comment: Four unrelated individuals reported. \nSources: Expert list","entity_name":"SLC1A2","entity_type":"gene"},{"created":"2020-02-18T18:31:03.115853+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHROOM4 as ready","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:31:03.102127+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom4 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:30:57.383420+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHROOM4 were changed from  to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:30:24.927789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHROOM4 as ready","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:30:24.914584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom4 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:30:11.859396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHROOM4 were changed from  to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:28:42.537422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHROOM4 were set to ","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:27:59.018771+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2199","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHROOM4 were set to ","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:27:55.880832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:27:30.435800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHROOM4 as Amber List (moderate evidence)","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:27:30.427075+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom4 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:27:19.352857+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2198","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:27:11.788098+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1382","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:26:09.323557+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2197","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHROOM4 as Amber List (moderate evidence)","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:26:09.314695+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shroom4 has been classified as Amber List (Moderate Evidence).","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:25:32.417970+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2196","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SHROOM4","entity_type":"gene"},{"created":"2020-02-18T18:19:25.806588+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1B as ready","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-18T18:19:25.798166+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1b has been classified as Green List (High Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-18T18:19:22.980322+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNF1B were changed from  to Diabetes mellitus, noninsulin-dependent 125853 AD; Renal cysts and diabetes syndrome 137920 AD; {Renal cell carcinoma} 144700","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-18T18:19:00.309553+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HNF1B were set to ","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-18T18:18:36.725888+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HNF1B was changed from  to Other","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-18T18:18:09.146063+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-18T18:17:17.916910+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1382","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F2 as ready","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:17:17.907758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f2 has been classified as Green List (High Evidence).","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:17:09.174187+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1382","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F2 were changed from  to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:16:50.062500+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1381","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F2 were set to ","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:16:31.812912+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1380","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:16:16.554587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: F2.","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:15:58.614510+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: F2.","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:15:48.091107+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1379","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:14:03.962433+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F2 as ready","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:14:03.953427+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f2 has been classified as Green List (High Evidence).","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:12:32.223494+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F2 were changed from  to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:12:06.117062+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F2 were set to ","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:10:52.278922+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: F2 was changed from  to Other","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T18:10:30.662594+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T15:10:37.683954+11:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.6","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"F2","entity_type":"gene"},{"created":"2020-02-18T15:02:46.358545+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.12","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25536396, 11845238, 15509593; Phenotypes: Diabetes mellitus, noninsulin-dependent 125853 AD, Renal cysts and diabetes syndrome 137920 AD, {Renal cell carcinoma} 144700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-02-17T19:02:10.624249+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKD1 as ready","entity_name":"PKD1","entity_type":"gene"},{"created":"2020-02-17T19:02:10.610723+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkd1 has been classified as Green List (High Evidence).","entity_name":"PKD1","entity_type":"gene"},{"created":"2020-02-17T19:02:06.053758+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKD1 were changed from  to Polycystic kidney disease 1, MIM# 173900","entity_name":"PKD1","entity_type":"gene"},{"created":"2020-02-17T19:01:42.483129+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PKD1","entity_type":"gene"},{"created":"2020-02-17T17:53:32.802695+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.22","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PKD1","entity_type":"gene"},{"created":"2020-02-17T13:38:14.496079+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD2 as ready","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:38:14.487558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd2 has been classified as Green List (High Evidence).","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:37:53.714635+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD2 as ready","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:37:53.705136+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd2 has been classified as Green List (High Evidence).","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:37:40.793653+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD2 as ready","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:37:40.784577+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd2 has been classified as Green List (High Evidence).","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:30:03.846150+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.610","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD2 were changed from  to Epileptic encephalopathy, childhood-onset (MIM # 615369)","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:29:50.253236+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2196","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD2 were changed from  to Epileptic encephalopathy, childhood-onset (MIM # 615369)","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:29:18.183902+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.609","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:28:38.376912+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2195","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:28:12.039974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1379","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD2 were changed from  to Epileptic encephalopathy, childhood-onset (MIM # 615369)","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:27:21.574846+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1378","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD2","entity_type":"gene"},{"created":"2020-02-17T13:23:13.280495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS1 as ready","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:23:13.267498+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints1 has been classified as Green List (High Evidence).","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:23:04.842243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS1 were changed from  to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:22:45.475155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTS1 were set to ","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:22:29.396111+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:20:09.161794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1374","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:18:40.865114+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTS1 as ready","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:18:40.851327+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ints1 has been classified as Green List (High Evidence).","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-02-17T13:18:35.701588+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTS1 were changed from  to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571","entity_name":"INTS1","entity_type":"gene"}]}