{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=918","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=916","results":[{"created":"2022-03-24T09:26:07.864685+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.200","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2022-03-24T09:23:20.871822+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NONO","entity_type":"gene"},{"created":"2022-03-24T09:23:15.978629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4595","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NONO","entity_type":"gene"},{"created":"2022-03-24T09:23:10.837520+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.424","user_name":"Krithika Murali","item_type":"entity","text":"gene: NONO was added\ngene: NONO was added to Callosome. Sources: Literature\nMode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NONO were set to 26571461; 27329731; 27550220\nPhenotypes for gene: NONO were set to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967\nReview for gene: NONO was set to GREEN\nAdded comment: Syndromic ID with associated features reported including corpus callosum and cardiac anomalies. \nSources: Literature","entity_name":"NONO","entity_type":"gene"},{"created":"2022-03-24T09:14:34.010237+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.449","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: 22926851; Phenotypes: ?Myoclonus, familial, 1 - MIM#614937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOL3","entity_type":"gene"},{"created":"2022-03-24T09:06:52.289016+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NOL3","entity_type":"gene"},{"created":"2022-03-24T08:41:21.992349+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF423 as ready","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:41:21.981920+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf423 has been classified as Red List (Low Evidence).","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:41:19.436509+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF423 were changed from  to Joubert syndrome 19 (MIM#614844)","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:41:11.364001+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZNF423 were set to ","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:40:59.367988+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZNF423 as Red List (low evidence)","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:40:59.358278+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf423 has been classified as Red List (Low Evidence).","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:40:49.404418+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007, 33531950; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ZNF423","entity_type":"gene"},{"created":"2022-03-24T08:27:07.880831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOG","entity_type":"gene"},{"created":"2022-03-24T08:25:14.808136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NNT","entity_type":"gene"},{"created":"2022-03-24T08:18:49.213934+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23201303, 23125094, 25097207, 26606510, 19650864, 23880596, 22770628, 26544189, 28428943, 21623199, 21439709, 33583041, 32055942, 19246479, 19066229, 34189227; Phenotypes: Hydatidiform mole, recurrent, 1 - MIM#231090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NLRP7","entity_type":"gene"},{"created":"2022-03-24T07:34:39.192054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRP12","entity_type":"gene"},{"created":"2022-03-24T07:34:30.325531+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.137","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRP12","entity_type":"gene"},{"created":"2022-03-23T21:47:20.465142+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAG1 as ready","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:47:20.454307+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stag1 has been classified as Green List (High Evidence).","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:47:16.142991+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAG1 were changed from  to Mental retardation, autosomal dominant 47, MIM# 617635","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:46:42.881281+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAG1 were set to ","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:46:01.715783+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4593","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:45:28.220034+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:45:08.126423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAG1 as ready","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:45:08.114568+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stag1 has been classified as Green List (High Evidence).","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:44:57.528972+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAG1 were changed from  to Mental retardation, autosomal dominant 47, MIM# 617635","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:44:38.277958+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11859","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAG1 were set to ","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:44:15.272611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11858","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:43:56.898360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11857","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAG1","entity_type":"gene"},{"created":"2022-03-23T21:40:44.689511+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAR as ready","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:40:44.677623+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: star has been classified as Green List (High Evidence).","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:40:41.217623+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAR were changed from  to Lipoid adrenal hyperplasia (MIM#201710)","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:40:13.651443+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAR were set to ","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:39:41.712908+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:39:05.374464+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:38:18.307421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAR as ready","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:38:18.296282+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: star has been classified as Green List (High Evidence).","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:38:05.540566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAR were changed from  to Lipoid adrenal hyperplasia (MIM#201710)","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:37:44.516524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAR were set to ","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:37:12.429460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11855","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:36:49.032922+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11854","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAR","entity_type":"gene"},{"created":"2022-03-23T21:32:36.545635+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT1 as ready","entity_name":"STAT1","entity_type":"gene"},{"created":"2022-03-23T21:32:36.536299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat1 has been classified as Green List (High Evidence).","entity_name":"STAT1","entity_type":"gene"},{"created":"2022-03-23T21:31:56.495218+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT1 were changed from  to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162","entity_name":"STAT1","entity_type":"gene"},{"created":"2022-03-23T21:31:35.275240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11853","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAT1 were set to ","entity_name":"STAT1","entity_type":"gene"},{"created":"2022-03-23T21:31:14.680253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11852","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STAT1","entity_type":"gene"},{"created":"2022-03-23T21:30:51.334067+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11851","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16934001, 22573496, 26513235, 12590259, 16585605, 20841510, 21714643, 21727188; Phenotypes: Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892, Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796, Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STAT1","entity_type":"gene"},{"created":"2022-03-23T21:25:03.898009+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT2 as ready","entity_name":"STAT2","entity_type":"gene"},{"created":"2022-03-23T21:25:03.886060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat2 has been classified as Green List (High Evidence).","entity_name":"STAT2","entity_type":"gene"},{"created":"2022-03-23T21:24:49.138014+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT2 were changed from  to Immunodeficiency 44, MIM# 616636; Pseudo-TORCH syndrome 3, MIM# 618886","entity_name":"STAT2","entity_type":"gene"},{"created":"2022-03-23T21:24:20.583688+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11850","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAT2 were set to ","entity_name":"STAT2","entity_type":"gene"},{"created":"2022-03-23T21:23:58.563206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11849","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAT2","entity_type":"gene"},{"created":"2022-03-23T21:23:39.890771+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11848","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121, 31836668, 32092142; Phenotypes: Immunodeficiency 44, MIM# 616636, Pseudo-TORCH syndrome 3, MIM# 618886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAT2","entity_type":"gene"},{"created":"2022-03-23T21:16:08.485726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11848","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STS as ready","entity_name":"STS","entity_type":"gene"},{"created":"2022-03-23T21:16:08.473678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11848","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Green List (High Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2022-03-23T21:15:58.114771+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11848","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STS were changed from  to Ichthyosis, X-linked 308100; Sterol metabolism disorder","entity_name":"STS","entity_type":"gene"},{"created":"2022-03-23T21:15:20.278220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11847","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"STS","entity_type":"gene"},{"created":"2022-03-23T21:15:00.684721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11846","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: STS.","entity_name":"STS","entity_type":"gene"},{"created":"2022-03-23T21:14:17.459779+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11846","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STUB1 as ready","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:14:17.447525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stub1 has been classified as Green List (High Evidence).","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:14:02.458384+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11846","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STUB1 were changed from  to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768; Spinocerebellar ataxia 48, MIM#618093","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:13:43.605818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11845","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STUB1 were set to ","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:13:22.158502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11844","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STUB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:13:01.336206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11843","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Onset is typically in adolescence but onset in childhood also reported. \nSources: Expert list; to: Multiple families reported with mono-allelic and bi-allelic disease, variable age of onset.\r\nSources: Expert list","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:12:37.351538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11843","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STUB1: Changed publications: 25258038, 24742043, 32337344, 30381368, 31126790; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768, Spinocerebellar ataxia 48, MIM#618093; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STUB1","entity_type":"gene"},{"created":"2022-03-23T21:10:38.078378+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STX11 as ready","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:10:38.067621+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stx11 has been classified as Green List (High Evidence).","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:10:32.013821+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STX11 were changed from  to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:09:56.485954+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STX11 were set to ","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:09:27.554058+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:08:42.750467+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:07:14.062812+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11843","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STX11 as ready","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:07:14.053430+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11843","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stx11 has been classified as Green List (High Evidence).","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:07:06.211952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11843","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STX11 were changed from  to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:06:46.397862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11842","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STX11 were set to ","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:06:21.808781+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11841","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:05:54.843960+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11840","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STX11: Changed phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:05:43.669055+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11840","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STX11","entity_type":"gene"},{"created":"2022-03-23T21:02:44.019885+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFIA as ready","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-03-23T21:02:44.008314+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfia has been classified as Green List (High Evidence).","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-03-23T18:34:02.353449+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11840","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRC4 as ready","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:34:02.339810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrc4 has been classified as Green List (High Evidence).","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:33:48.787075+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11840","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRC4 were changed from  to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:33:26.351579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11839","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLRC4 were set to ","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:32:54.276415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11838","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:32:16.626757+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRC4 as ready","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:32:16.612885+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrc4 has been classified as Green List (High Evidence).","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:32:13.214139+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRC4 were changed from  to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:31:42.723742+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLRC4 were set to ","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:31:12.019569+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRC4","entity_type":"gene"},{"created":"2022-03-23T18:28:58.343199+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLGN3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:28:18.436548+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN3 as ready","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:28:18.419641+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn3 has been classified as Green List (High Evidence).","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:28:11.702805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4592","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:26:56.302286+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4591","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLGN3 were set to ","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:25:48.403136+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4590","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLGN3 were changed from  to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:24:53.674112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11837","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:16:02.920504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11836","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN3 as ready","entity_name":"NLGN3","entity_type":"gene"},{"created":"2022-03-23T18:16:02.909132+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11836","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn3 has been classified as Green List (High Evidence).","entity_name":"NLGN3","entity_type":"gene"}]}