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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1488",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1486",
"results": [
{
"created": "2020-12-04T15:09:25.046502+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:09:06.264385+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "commented on gene: BRCA1: A cause of a Mendelian disorder that could present in fetal life - however needs discussion",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:07:56.844595+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:07:05.055173+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:06:41.855823+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:05:26.393530+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BIRC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BIRC3",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:03:51.340278+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BCL6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BCL6",
"entity_type": "gene"
},
{
"created": "2020-12-04T15:02:34.955298+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: BCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BCL2",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:59:51.889157+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:58:34.339109+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:57:10.451021+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARL11",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:52:18.105298+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "changed review comment from: A cause of a Mendelian disorder that could present in fetal life; to: A cause of a Mendelian disorder that could present in childhood ",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:49:13.338649+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:47:40.595514+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:45:04.349874+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-12-04T14:37:51.709633+11:00",
"panel_name": "Incidentalome_PREGEN_DRAFT",
"panel_id": 3437,
"panel_version": "0.3",
"user_name": "Tony Roscioli",
"item_type": "entity",
"text": "reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-12-04T13:15:12.198620+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356099, 29808465; Phenotypes: Developmental and epileptic encephalopathy 28 (MIM#616211), Spinocerebellar ataxia 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:27:23.125856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31207095; Phenotypes: Mental retardation, autosomal dominant 43 MIM#616977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIVEP2",
"entity_type": "gene"
},
{
"created": "2020-12-04T12:17:07.102430+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37430-Loss as ready",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T12:17:07.090644+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37430-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T12:16:59.302291+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37430-Loss as Green List (high evidence)",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T12:16:59.292288+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37430-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T12:16:49.976371+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37430-Loss was added\nRegion: ISCA-37430-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM#\t247200\nReview for Region: ISCA-37430-Loss was set to GREEN\nAdded comment: Well established CNV, LIS1 gene deletion associated with lissencephaly. \nSources: Expert list",
"entity_name": "ISCA-37430-Loss",
"entity_type": "region"
},
{
"created": "2020-12-04T12:11:30.438959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32781272, 17701896, 7593598; Phenotypes: Arts syndrome MIM#301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 MIM#311070, Deafness, X-linked 1 MIM#304500, Gout, PRPS-related MIM#300661, Phosphoribosylpyrophosphate synthetase superactivity MIM#300661; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:58:49.788817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIPF5 as ready",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:58:49.759365+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:58:44.516377+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIPF5 as Green List (high evidence)",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:58:44.505916+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:58:15.498307+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIPF5 was added\ngene: YIPF5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIPF5 were set to 33164986\nPhenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures\nReview for gene: YIPF5 was set to GREEN\nAdded comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:53:41.478616+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIPF5 as ready",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:53:41.467736+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:53:23.773346+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIPF5 as Green List (high evidence)",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:53:23.765406+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:52:39.774712+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIPF5 was added\ngene: YIPF5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIPF5 were set to 33164986\nPhenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures\nReview for gene: YIPF5 was set to GREEN\nAdded comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:48:45.933574+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIPF5 as ready",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:48:45.925514+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:48:41.353715+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIPF5 as Green List (high evidence)",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:48:41.339006+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:48:32.627001+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIPF5 was added\ngene: YIPF5 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIPF5 were set to 33164986\nPhenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures\nReview for gene: YIPF5 was set to GREEN\nAdded comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:47:14.378788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIPF5 as ready",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:47:14.370584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:47:04.610178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIPF5 as Green List (high evidence)",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:47:04.601836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yipf5 has been classified as Green List (High Evidence).",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:46:46.242754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIPF5 was added\ngene: YIPF5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIPF5 were set to 33164986\nPhenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures\nReview for gene: YIPF5 was set to GREEN\nAdded comment: Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "YIPF5",
"entity_type": "gene"
},
{
"created": "2020-12-04T10:37:30.522365+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ATP7B: Changed publications: 26758278, 25988284",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-12-03T22:45:48.714133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5525",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-12-03T20:46:56.847968+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37430-Gain as ready",
"entity_name": "ISCA-37430-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T20:46:56.840149+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37430-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37430-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T20:46:50.562264+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37430-Gain as Green List (high evidence)",
"entity_name": "ISCA-37430-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T20:46:50.552073+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37430-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37430-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T20:46:41.781930+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37430-Gain was added\nRegion: ISCA-37430-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37430-Gain.\nMode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability\nReview for Region: ISCA-37430-Gain was set to GREEN\nAdded comment: Well established CNV, involving the LIS1 and/or YWHAE genes. Individuals with LIS1 duplications have brain abnormalities, including microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tend to have macrosomia, facial dysmorphism, and mild developmental delay. \nSources: Expert list",
"entity_name": "ISCA-37430-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T20:37:13.695735+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37429-Loss as ready",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:37:13.683261+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37429-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:37:10.217476+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37429-Loss as Green List (high evidence)",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:37:10.206978+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37429-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:36:59.829405+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features\nReview for Region: ISCA-37429-Loss was set to GREEN\nAdded comment: Well established CNV. \nSources: Expert list",
"entity_name": "ISCA-37429-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:21:28.413274+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of Region: ISCA-37425-Loss: Changed phenotypes: Sotos syndrome, chromosome 5q35 deletion, intellectual disability, overgrowth",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:21:20.441103+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37425-Loss as ready",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:21:20.429946+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37425-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:21:13.769750+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37425-Loss were changed from to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:20:44.887007+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37425-Loss as Green List (high evidence)",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:20:44.867481+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37425-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T20:20:34.362682+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nReview for Region: ISCA-37425-Loss was set to GREEN\nAdded comment: Deletions of NSD1 are a common cause of Sotos syndrome. \nSources: Expert list",
"entity_name": "ISCA-37425-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:55:11.289221+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37425-Gain as ready",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T18:55:11.279566+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37425-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T18:55:07.546842+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37425-Gain as Green List (high evidence)",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T18:55:07.537025+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37425-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T18:54:59.374701+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37425-Gain was added\nRegion: ISCA-37425-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37425-Gain.\nMode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Gain were set to 24819041\nPhenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures\nReview for Region: ISCA-37425-Gain was set to GREEN\nAdded comment: Reciprocal duplication including NSD1, supporting gene dosage effect of NSD1 on growth regulation and neurological function. \nSources: Expert list",
"entity_name": "ISCA-37425-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T18:48:12.819070+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37424-Loss as ready",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:48:12.809697+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37424-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:48:08.345357+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37424-Loss as Green List (high evidence)",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:48:08.337796+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37424-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:47:51.106610+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37424-Loss was added\nRegion: ISCA-37424-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37424-Loss.\nMode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37424-Loss were set to 20345475; 25846706\nPhenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly\nReview for Region: ISCA-37424-Loss was set to GREEN\nAdded comment: Established CNV. Note deletions typically include BMPR1A and sometimes PTEN, which have implications for cancer surveillance. \nSources: Expert list",
"entity_name": "ISCA-37424-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:24:11.195020+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37423-Loss as ready",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:24:11.185060+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:24:06.814764+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37423-Loss as Green List (high evidence)",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:24:06.805884+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:23:59.436499+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to Region: ISCA-37423-Loss.",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T18:23:51.139726+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37423-Loss was added\nRegion: ISCA-37423-Loss was added to Common deletion and duplication syndromes. Sources: Expert list\nMode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981\nPhenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay\nReview for Region: ISCA-37423-Loss was set to GREEN\nAdded comment: Well established CNV. Deletion of GATA4 linked to congenital heart defects. \nSources: Expert list",
"entity_name": "ISCA-37423-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T17:02:07.869240+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37423-Gain as ready",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T17:02:07.858749+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T17:02:03.782461+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37423-Gain as Green List (high evidence)",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T17:02:03.772288+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37423-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T17:01:55.159978+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37423-Gain was added\nRegion: ISCA-37423-Gain was added to Common deletion and duplication syndromes. Sources: Expert list\nSV/CNV tags were added to Region: ISCA-37423-Gain.\nMode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Gain were set to 26097203; 25520754\nPhenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease\nReview for Region: ISCA-37423-Gain was set to GREEN\nAdded comment: Well established CNV. Duplication of GATA4 is thought to be responsible for the association with congenital heart disease. \nSources: Expert list",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:55:07.302665+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37446-Gain as ready",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:55:07.292033+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37446-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:55:04.570569+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome\tMIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:54:48.111051+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of Region: ISCA-37446-Gain: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:54:38.066598+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed Region: ISCA-37446-Gain: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D; Mode of inheritance: None",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:53:40.584468+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37446-Gain as Green List (high evidence)",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:53:40.574467+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37446-gain has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37446-Gain",
"entity_type": "region"
},
{
"created": "2020-12-03T16:52:32.203464+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37443-Loss as ready",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:52:32.193054+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37443-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:52:29.961495+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:52:09.483470+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37443-Loss as Green List (high evidence)",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:52:09.471124+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37443-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37443-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:50:20.612537+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked Region: ISCA-37441-Loss as ready",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:50:20.605300+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: isca-37441-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:50:17.248505+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for Region: ISCA-37441-Loss were changed from Potocki-Shaffer syndrome MIM#601224 to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
},
{
"created": "2020-12-03T16:49:51.340834+11:00",
"panel_name": "Common deletion and duplication syndromes",
"panel_id": 3443,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified Region: ISCA-37441-Loss as Green List (high evidence)",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
}
]
}