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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=918",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}