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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1108",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1106",
"results": [
{
"created": "2021-12-01T19:34:02.252180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH11 were set to ",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:20:23.316179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF4 as ready",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:20:23.306293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf4 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:20:18.465532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF4 were changed from PRIMARY CILIARY DYSPLASIA to Ciliary dyskinesia, primary, 25, MIM# 615482",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:19:59.762283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF4 were set to ",
"entity_name": "DNAAF4",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:19:31.908904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF3 as ready",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:19:31.895981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf3 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:19:28.166209+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763 to Ciliary dyskinesia, primary, 2, MIM# 606763",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:19:14.325493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF3 were set to ",
"entity_name": "DNAAF3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:18:27.747271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAAF1 as ready",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:18:27.736237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnaaf1 has been classified as Green List (High Evidence).",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:18:23.857247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia 613193 to Ciliary dyskinesia, primary, 13, MIM# 613193",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:13:52.520438+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAAF1 were set to ",
"entity_name": "DNAAF1",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:13:11.972396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMPK as ready",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:13:11.960594+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmpk has been classified as Green List (High Evidence).",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:13:05.108489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1 to Myotonic dystrophy 1, MIM#160900",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:12:50.805870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: DMPK was changed from to Other",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:12:40.934483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:12:26.791202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is a feature of the congenital form of this triplet expansion disorder.; to: Triplet expansion disorder, severe perinatal form.",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:12:02.379800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: DMPK.",
"entity_name": "DMPK",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:08:04.643105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL3 as ready",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:08:04.633761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll3 has been classified as Green List (High Evidence).",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:07:55.946788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:07:38.419992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLL3 were set to ",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:07:18.581829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:06:49.854646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:06:04.480096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLL3 as ready",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:06:04.468587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dll3 has been classified as Green List (High Evidence).",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:06:01.203610+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLL3 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:05:48.051850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLL3 were set to ",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:05:32.786611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLL3: Changed publications: 10742114, 12746394",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:05:04.727173+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLL3: Changed publications: 10742114, 10742114",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:04:13.268006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.\r\n\r\n; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.\r\n\r\nMore than 10 unrelated families reported, well established gene-disease association.\r\n\r\n",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:03:20.255155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.\r\n\r\n",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T17:02:43.032629+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLL3: Changed rating: GREEN",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:49.748758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHFR as ready",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:49.739349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhfr has been classified as Red List (Low Evidence).",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:45.810424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHFR were changed from MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:27.650474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHFR were set to ",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:14.723142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHFR as Red List (low evidence)",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:14.709252+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhfr has been classified as Red List (Low Evidence).",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:33:03.588916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHFR: Changed rating: RED",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:32:57.111137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation.; to: Three unrelated families reported, neurological disease in some severe, others predominantly haematological presentation. Earliest presentation was post-natal with acquired microcephaly.",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:32:18.955954+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHFR: Changed rating: AMBER",
"entity_name": "DHFR",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:31:05.684405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:31:05.673856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:31:00.741029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from SMITH-LEMLI-OPITZ SYNDROME to Smith-Lemli-Opitz syndrome, MIM# 270400",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:30:31.612554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR7 were set to 31840946",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:30:12.737138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Not a ciliopathy, but relatively common condition with phenotypic overlap. \nSources: Expert list; to: Well established gene-disease association, multiple congenital anomalies.\r\n\r\nSources: Expert list",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:26:56.114510+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:26:24.585122+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUBB3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:46.592244+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD2 as ready",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:46.575920+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:39.995322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD2 as ready",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:39.984510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:33.959803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD2 as Green List (high evidence)",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:33.949142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:27.766530+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD2 as Green List (high evidence)",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:25:27.756110+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad2 has been classified as Green List (High Evidence).",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:24:54.268822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD2 were set to 29967133; 30157302; 23665959\nPhenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease\nReview for gene: SMAD2 was set to GREEN\nAdded comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.\r\n\r\nPMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype \nSources: Expert Review",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:23:51.638586+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD2 was added\ngene: SMAD2 was added to Congenital Heart Defect. Sources: Expert Review\nMode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD2 were set to 29967133; 30157302; 23665959\nPhenotypes for gene: SMAD2 were set to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease\nReview for gene: SMAD2 was set to GREEN\nAdded comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.\r\n\r\nPMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype \nSources: Expert Review",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:22:46.028964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD2 were set to 29967133; 29967133; 30157302; 23665959",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:21:08.388206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:20:08.533195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD2 were set to 29967133",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:12:47.866536+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD10 as ready",
"entity_name": "CARD10",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:12:47.856126+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card10 has been classified as Red List (Low Evidence).",
"entity_name": "CARD10",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:12:40.072830+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD10 was added\ngene: CARD10 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARD10 were set to 32238915\nPhenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632\nReview for gene: CARD10 was set to RED\nAdded comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant. \nSources: Expert list",
"entity_name": "CARD10",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:11:13.227001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARD10 as ready",
"entity_name": "CARD10",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:11:13.212944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: card10 has been classified as Red List (Low Evidence).",
"entity_name": "CARD10",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:10:52.458486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD10 was added\ngene: CARD10 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CARD10 were set to 32238915\nPhenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM#\t619632\nReview for gene: CARD10 was set to RED\nAdded comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant. \nSources: Expert list",
"entity_name": "CARD10",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:07:48.153301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX21 as ready",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:07:48.142149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx21 has been classified as Red List (Low Evidence).",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:07:40.959396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX21 were changed from to Immunodeficiency 88, MIM# 619630; Asthma and nasal polyps, MIM# 208550",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:07:22.007198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX21 were set to ",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:06:57.649986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:06:01.881447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX21 as Red List (low evidence)",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:06:01.870780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx21 has been classified as Red List (Low Evidence).",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T14:05:44.691141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX21: Rating: RED; Mode of pathogenicity: None; Publications: 33296702, 9393345, 15496426, 15806396; Phenotypes: Immunodeficiency 88, MIM# 619630, Asthma and nasal polyps, MIM# 208550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX21",
"entity_type": "gene"
},
{
"created": "2021-12-01T13:00:45.246414+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.20",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "edited their review of gene: TUBB3: Changed phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-12-01T13:00:07.929100+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.20",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-12-01T09:39:07.979355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "changed review comment from: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.; to: 10 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T09:35:23.085988+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T09:31:05.085071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "commented on gene: SMAD2: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.\r\n\r\nPMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-01T09:30:11.711482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "edited their review of gene: SMAD2: Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.\r\n\r\nPMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype; Changed publications: 29967133, 30157302, 23665959; Changed phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease, congenital heart disease",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:59:32.990322+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:59:32.977170+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:32:12.044539+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:31:08.205436+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR24 were set to ",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:28:08.757046+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:27:43.312944+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:27:02.719033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:27:02.705445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:26:46.465260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:26:46.374205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR24 as ready",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:26:46.360740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr24 has been classified as Green List (High Evidence).",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:26:17.976376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR24 were set to ",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:25:49.722733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:25:30.349736+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:24:05.261179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR24 were changed from DESMOSTEROLOSIS to Desmosterolosis, MIM# 602398",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2021-11-30T18:21:33.299216+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR24 were set to ",
"entity_name": "DHCR24",
"entity_type": "gene"
}
]
}