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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1783",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1781",
"results": [
{
"created": "2020-06-01T14:03:08.707921+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna2d1 has been classified as Red List (Low Evidence).",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:02:31.333006+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1C as ready",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:02:31.323547+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:02:27.642867+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1C were set to ",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:01:56.566314+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1C as Red List (low evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T14:01:56.556464+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:55:35.657269+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCIDAS",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:54:10.215218+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: PCD without situs invertus (OMIM)\r\n\r\nPMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia; to: PCD without situs invertus (OMIM)\r\n\r\nPMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.",
"entity_name": "MCIDAS",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:53:09.939673+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MCIDAS: Rating: RED; Mode of pathogenicity: None; Publications: 25048963; Phenotypes: Ciliary dyskinesia, primary, 42 (MIM#618695); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCIDAS",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:41:12.084387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2658",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: HIST1H4J as Amber List (moderate evidence)",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:41:12.075683+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2658",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: hist1h4j has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:40:05.078498+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2657",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: HIST1H4J as ready",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:40:05.058754+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2657",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: hist1h4j has been classified as Red List (Low Evidence).",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2020-06-01T13:39:50.414669+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2657",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: HIST1H4J was added\ngene: HIST1H4J was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HIST1H4J were set to 31804630\nPhenotypes for gene: HIST1H4J were set to microcephaly; intellectual disability; dysmorphic features\nPenetrance for gene: HIST1H4J were set to Complete\nReview for gene: HIST1H4J was set to AMBER\nAdded comment: single case report but with functional evidence in zebrafish and phenotypic similarity to other HIST1H4C phenotype \nSources: Literature",
"entity_name": "HIST1H4J",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:56:59.922077+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-01T12:55:38.822031+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCF4 as Green List (high evidence)",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:55:38.810729+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf4 has been classified as Green List (High Evidence).",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:55:29.326890+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19692703, 16880254, 29969437; Phenotypes: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:54:25.994664+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DRC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31960620, 32108610; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DRC1",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:41:34.275388+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: C17orf62: Changed publications: 28600779, 30361506, 28351984, 30312704",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:40:19.048819+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: C17orf62 as Green List (high evidence)",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:40:19.032026+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: c17orf62 has been classified as Green List (High Evidence).",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:40:10.208721+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: C17orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: 28600779, 30361506, 28351984; Phenotypes: Chronic granulomatous disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:27:45.287201+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOD2 as Green List (high evidence)",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:27:45.277957+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nod2 has been classified as Green List (High Evidence).",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:27:29.978834+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCF2 as Green List (high evidence)",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:27:29.965460+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf2 has been classified as Green List (High Evidence).",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:27:17.410578+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NCF1 as Green List (high evidence)",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:27:17.397041+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Green List (High Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:57.506305+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: G6PD as Green List (high evidence)",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:57.497344+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:45.159371+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYBB as Green List (high evidence)",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:45.148251+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cybb has been classified as Green List (High Evidence).",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:33.977790+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MYH6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20656787, 29969989, 15735645; Phenotypes: Atrial septal defect 3 (MIM#614089); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MYH6",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:33.670894+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYBA as Green List (high evidence)",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:26:33.661340+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyba has been classified as Green List (High Evidence).",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:54.153919+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOD2 was added\ngene: NOD2 was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOD2 were set to Blau syndrome MIM#186580",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:54.112451+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NCF4 was added\ngene: NCF4 was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF4 were set to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:54.070711+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NCF2 was added\ngene: NCF2 was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2 MIM#233710",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:54.022850+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NCF1 was added\ngene: NCF1 was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:53.981798+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) MIM#300908",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:53.941006+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYBB was added\ngene: CYBB was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked MIM#306400",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:53.900113+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYBA was added\ngene: CYBA was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA MIM#233690",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:53.857666+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C17orf62 was added\ngene: C17orf62 was added to Chronic granulomatous disease. Sources: Expert list\nMode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf62 were set to 30361506; 30312704\nPhenotypes for gene: C17orf62 were set to Chronic granulomatous disease",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2020-06-01T12:02:53.834748+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Chronic granulomatous disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-01T11:19:43.930394+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DNAH9 was added\ngene: DNAH9 was added to Heterotaxy. Sources: Expert list\nMode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH9 were set to PMID: 30471717; 30471718\nPhenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40\t618300\nReview for gene: DNAH9 was set to GREEN\nAdded comment: OMIM: Situs inversus of the heart \r\n\r\nPMID: 30471717 - 4 patients (3 families) all with PCD and situs inversus.\r\n\r\nPMID: 30471718 - 5 families with situs inversus totalis and/or heterotaxy \nSources: Expert list",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2020-06-01T10:53:11.525111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2932",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DNAH6 was added\ngene: DNAH6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH6 were set to PMID: 26918822\nPhenotypes for gene: DNAH6 were set to Heterotaxy, Azoospermia\nReview for gene: DNAH6 was set to AMBER\nAdded comment: PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.\r\nTwo patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.\r\n\r\nSummary: 1 convincing patient with animal model \nSources: Literature",
"entity_name": "DNAH6",
"entity_type": "gene"
},
{
"created": "2020-06-01T10:50:16.161972+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DNAH1 was added\ngene: DNAH1 was added to Heterotaxy. Sources: Expert list\nMode of inheritance for gene: DNAH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH1 were set to PMID: 25927852; 24360805\nPhenotypes for gene: DNAH1 were set to ?Ciliary dyskinesia, primary, 37 617577\nReview for gene: DNAH1 was set to RED\nAdded comment: PMID: 25927852 - 2 homozygous siblings with a missense variant and PCD. Proband had situs invertus, sibling details unavailable.\r\n\r\nPMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. No mention of patients and situs inversus \"Apart from infertility, none of the 20 individuals declared suffering from any of the principal PCD symptoms\"\r\n\r\nSummary: single report but emerging gene with limited reports \nSources: Expert list",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2020-06-01T10:29:10.010101+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19052621, 31107948; Phenotypes: Ciliary dyskinesia, primary, 10 612518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAAF2",
"entity_type": "gene"
},
{
"created": "2020-06-01T09:46:30.155916+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CCNO: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24747639, 24824133, 31765523; Phenotypes: Ciliary dyskinesia, primary, 29 615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2020-06-01T09:07:59.031965+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2020-06-01T08:45:43.176794+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.75",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to Heterotaxy. Sources: Expert Review\nMode of inheritance for gene: NPHP4 was set to Unknown\nPublications for gene: NPHP4 were set to 22550138\nPhenotypes for gene: NPHP4 were set to Pleiotropic Heart Malformations (PMID: 22550138)\nReview for gene: NPHP4 was set to AMBER\nAdded comment: Single publication in 2012 reported biallelic variants in a consanguineous family and additional heterozygous variants in sporadic patients with cardiac laterality defects. Knockdown nphp4 expression in zebrafish caused laterality defects.\r\n\r\nPMID: 22550138; Frenh 2012: Hom missense reported in a consang family with with cardiac laterality defects. 9 additional het sporadic cases reported with features of heterotaxy. p.(Ala1110Val) reported in one patient with abdominal situs inversus but variant is present in gnomAD (1007 hets and 3 hom), another missense, p.(Pro541Leu), reported in patient with midline liver and asplenia (variant is present 228x in gnomAD). Most of the variants in the sporadic cases either many hets or present in homozygosity. \nSources: Expert Review",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:26:17.405221+10:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.10",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: rated as definitive by ClinGen; to: rated as definitive by ClinGen 03/08/2017",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:20:29.196983+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Long QT Syndrome. Sources: Expert list\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRDN were set to long QT syndrome\nPhenotypes for gene: TRDN were set to PMID: 31983240; 25922419\nReview for gene: TRDN was set to GREEN\ngene: TRDN was marked as current diagnostic\nAdded comment: definitive as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group:\r\nEvidence for involvement of TRDN in LQTS was based mainly on a single publication demonstrating 5 cases with homozygous or compound heterozygous frameshift variants. All cases presented during early childhood (up to the age of 3 years) with QT prolongation, negative T waves in precordial leads, and exercise-induced arrhythmias, although typical\r\ntorsades de pointes was demonstrated only in 1 case. Experimental evidence demonstrated that TRDN loss of function may lead to arrhythmogenesis but did not specifically show prolongation of repolarization, which is the hallmark of LQTS. Accordingly, there was a debate\r\nwithin the panel as to whether the TRDN-related cardiac phenotype should be classified as CPVT or as a unique syndrome, referred in the literature as triadin knockout syndrome. Because QT prolongation was the most easily discernable abnormality, it was decided to consider these cases as having an atypical LQTS phenotype. Furthermore, it was agreed that there was strong evidence for TRDN’s disease association. \nSources: Expert list",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:14:00.349567+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:13:12.173281+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Brugada syndrome, dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:11:56.788233+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:11:02.786340+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:09:42.897764+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2020-06-01T00:07:59.642963+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Andersen-Tawil syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:57:00.443850+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "edited their review of gene: KCNE2: Set current diagnostic: yes",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:56:32.279287+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:55:08.287636+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31983240, 28794082; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:47:26.569982+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: long QT syndrome, acquired LQTS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:40:36.841398+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31983240, 17060380; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:28:02.270627+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: CALM2 was added\ngene: CALM2 was added to Long QT Syndrome. Sources: Expert list\nMode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CALM2 were set to PMID: 31983240\nPhenotypes for gene: CALM2 were set to long QT syndrome\nPenetrance for gene: CALM2 were set to unknown\nReview for gene: CALM2 was set to GREEN\ngene: CALM2 was marked as current diagnostic\nAdded comment: strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group \nSources: Expert list",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:26:41.640160+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: CALM1 was added\ngene: CALM1 was added to Long QT Syndrome. Sources: Expert Review\nMode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CALM1 were set to long QT syndrome\nPenetrance for gene: CALM1 were set to unknown\nReview for gene: CALM1 was set to GREEN\ngene: CALM1 was marked as current diagnostic\nAdded comment: strong evidence for causality in LQTS with atypical features presenting in childhood - presentation typically in infancy or early childhood (up to 5 years) with marked bradycardia or atrioventricular block associated with severe QT prolongation, a presentation that is seen only rarely in LQTS related to SCN5A and KCNH2 genetic defects as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group \nSources: Expert Review",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:24:06.898231+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CALM3",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:19:15.729146+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome, Timothy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:11:25.367437+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: ANK2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2020-05-31T23:08:11.733389+10:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.7",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31983240; Phenotypes: long QT syndrome; Mode of inheritance: None",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:45:39.591103+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SCN3B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: None",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:44:34.277697+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:42:46.175873+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: Brugada syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:36:55.674848+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCN1B",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:35:50.524766+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCN10A",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:34:45.582614+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:34:05.943081+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCNE3",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:33:20.921238+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: disputed by ClinGen (21/11/2017) and recent publication: Circulation. 2018;138:1195–1205 (PMID: 29959160); to: disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:33:07.462719+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: disputed by ClinGen (21/11/2017) and recent publication: Circulation. 2018;138:1195–1205; to: disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:32:47.050973+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "changed review comment from: disputed by ClinGen (21/11/2017) and recent publication: Circulation. 2018;138:1195–1205; to: disputed by ClinGen (21/11/2017) and as reported in Circulation. 2018;138:1195–1205 (PMID: 29959160)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:32:30.077772+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:30:22.697467+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNB2",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:28:18.204618+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNA2D1",
"entity_type": "gene"
},
{
"created": "2020-05-31T22:24:42.466218+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.13",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29959160; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-05-30T13:04:15.034158+10:00",
"panel_name": "Malformations of cortical development",
"panel_id": 3136,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Malformations of cortical development Superpanel to Malformations of cortical development",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-30T13:02:03.083980+10:00",
"panel_name": "Malformations of cortical development Superpanel",
"panel_id": 3136,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-30T12:24:32.714495+10:00",
"panel_name": "Malformations of cortical development Superpanel",
"panel_id": 3136,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Tubulinopathies; Cobblestone Malformations; Periventricular Grey Matter Heterotopia",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-30T12:22:02.165786+10:00",
"panel_name": "Malformations of cortical development Superpanel",
"panel_id": 3136,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Microcephaly; Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Tubulinopathies; Cobblestone Malformations; Periventricular Grey Matter Heterotopia",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-30T11:37:50.481574+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSNK2A1 as ready",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:37:50.472610+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csnk2a1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:21:26.141032+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:21:26.132168+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:21:23.451041+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPSM2 as Green List (high evidence)",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:21:23.438982+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:20:50.985240+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPSM2 was added\ngene: GPSM2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPSM2 were set to 22578326\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome MIM#604213\nReview for gene: GPSM2 was set to GREEN\nAdded comment: Polymicrogyria is a prominent feature of the condtion, reported in at least 10/10 families. \nSources: Expert list",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-05-30T11:08:35.491912+10:00",
"panel_name": "Malformations of cortical development Superpanel",
"panel_id": 3136,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Microcephaly; Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations; Periventricular Grey Matter Heterotopia",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-30T10:55:03.763382+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CSNK2A1 as Green List (high evidence)",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:55:03.750844+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: csnk2a1 has been classified as Green List (High Evidence).",
"entity_name": "CSNK2A1",
"entity_type": "gene"
},
{
"created": "2020-05-30T10:54:32.475548+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CSNK2A1 was added\ngene: CSNK2A1 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSNK2A1 were set to 29240241\nPhenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome\tMIM#617062\nReview for gene: CSNK2A1 was set to GREEN\nAdded comment: Microcephaly is a feature of the condition in 8/14 cases with de novo variants. \nSources: Expert list",
"entity_name": "CSNK2A1",
"entity_type": "gene"
}
]
}