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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1883",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1881",
"results": [
{
"created": "2020-04-05T15:40:18.109434+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKL1 as Amber List (moderate evidence)",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:40:18.095270+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:39:47.366216+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKL1 was added\ngene: MKL1 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKL1 were set to 32128589; 26224645\nPhenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency\nReview for gene: MKL1 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:36:30.609432+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR1 were changed from Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:35:42.075634+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR1 as ready",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:35:42.062555+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:35:37.357554+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR1 were changed from to Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:34:37.221911+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR1 as Green List (high evidence)",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:34:37.208632+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:34:09.225483+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR1 was added\ngene: WDR1 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR1 were set to 27994071; 27557945; 29751004\nReview for gene: WDR1 was set to GREEN\nAdded comment: Seven families reported with immunological phenotypes and bi-allelic variants in this gene, three of these had a predominantly phagocyte/neutrophil defects. \nSources: Expert list",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:32:18.882252+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CACNA1A as Green List (high evidence)",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:32:18.868895+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:32:05.975845+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1A was added\ngene: CACNA1A was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1A were set to 25468264; 23441182; 19232643; 18758887; 11344116\nPhenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500; Spinocerebellar ataxia 6 MIM#183086\nReview for gene: CACNA1A was set to GREEN\nAdded comment: At least four families where dystonia is a feature of the condition (complex dystonia phenotype), and knockout mouse model also has dystonia as a feature of the phenotype. \nSources: Expert list",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:26:31.584731+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAC2 as ready",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:26:31.571622+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac2 has been classified as Green List (High Evidence).",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:22:10.994156+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAC2 were changed from to Neutrophil immunodeficiency syndrome, MIM# 608203; Common variable immunodeficiency",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:21:44.454511+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAC2 were set to ",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:21:23.959599+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:20:46.089637+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25512081; Phenotypes: Neutrophil immunodeficiency syndrome, MIM# 608203, Common variable immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:18:59.488225+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAC2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:15:39.487984+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRP54 as ready",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:15:39.475344+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Green List (High Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:15:35.351938+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRP54 as Green List (high evidence)",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:15:35.339046+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Green List (High Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:14:58.561307+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP54 was added\ngene: SRP54 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRP54 were set to 29914977; 28972538\nPhenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM#\t618752\nReview for gene: SRP54 was set to GREEN\nAdded comment: Over 25 individuals reported with Shwachman-Diamond like phenotype. \nSources: Expert list",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:11:08.295654+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYOU1 as ready",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:11:08.286526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyou1 has been classified as Red List (Low Evidence).",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:10:59.461577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYOU1 was added\ngene: HYOU1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYOU1 were set to 27913302\nPhenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM#\t233600\nReview for gene: HYOU1 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:09:37.799548+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYOU1 as ready",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:09:37.786239+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyou1 has been classified as Red List (Low Evidence).",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:09:32.225597+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYOU1 was added\ngene: HYOU1 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYOU1 were set to 27913302\nPhenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM#\t233600\nReview for gene: HYOU1 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:05:59.832519+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFL1 as ready",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:05:59.818770+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:02:43.899771+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFL1 as Green List (high evidence)",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:02:43.891178+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T15:02:15.872086+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFL1 was added\ngene: EFL1 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFL1 were set to 28331068; 31151987\nPhenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM#\t617941\nReview for gene: EFL1 was set to GREEN\nAdded comment: Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified. \nSources: Expert list",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:57:20.437998+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC21 as ready",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:57:20.428348+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc21 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:57:04.179442+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJC21 as Green List (high evidence)",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:57:04.170093+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc21 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:56:33.365116+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC21 was added\ngene: DNAJC21 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC21 were set to 29700810; 28062395; 27346687\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM#\t617052; Short stature; Exocrine pancreatic insufficiency; Pancytopaenia; Shwachman-Diamond syndrome\nReview for gene: DNAJC21 was set to GREEN\nAdded comment: Over ten unrelated families reported. \nSources: Expert list",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:51:34.669102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCD2 as ready",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:51:34.655914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:51:25.614341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCD2 as Green List (high evidence)",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:51:25.598758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:51:08.142292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCD2 was added\ngene: SMARCD2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCD2 were set to 28369036; 28369034\nPhenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM#\t617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia\nReview for gene: SMARCD2 was set to GREEN\nAdded comment: Three unrelated families and functional data. \nSources: Expert list",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:49:22.891460+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCD2 as ready",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:49:22.877527+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:49:20.043184+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCD2 as Green List (high evidence)",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:49:20.034301+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcd2 has been classified as Green List (High Evidence).",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:48:52.285800+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCD2 was added\ngene: SMARCD2 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCD2 were set to 28369036; 28369034\nPhenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM#\t617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia\nReview for gene: SMARCD2 was set to GREEN\nAdded comment: Three unrelated families and functional data. \nSources: Expert list",
"entity_name": "SMARCD2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:47:27.996622+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AFG3L2 were set to 22964162; 16541453\nPhenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487\nReview for gene: AFG3L2 was set to RED\nAdded comment: Dystonia is not a prominent feature of this condition. There is a single family reported with complex dystonia. Dystonia was previously observed in a family whose affected members carried an 18p chromosomal deletion that included AFG3L2. \nSources: Expert list",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:41:02.678029+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-05T14:39:29.988749+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGT1 as ready",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:39:29.978897+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:39:23.384106+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAGT1 as Green List (high evidence)",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:39:23.375634+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Green List (High Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:38:47.818686+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGT1 was added\ngene: MAGT1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAGT1 were set to 31036665; 25504528; 21796205; 24550228; 25956530\nPhenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM#\t300853\nReview for gene: MAGT1 was set to GREEN\nAdded comment: Multiple unrelated individuals reported, some overlap with the CDG associated with his gene. \nSources: Expert list",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:35:02.446684+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITK as ready",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:35:02.437290+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:34:53.407344+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITK as Green List (high evidence)",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:34:53.394370+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:34:24.511935+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITK was added\ngene: ITK was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITK were set to 19425169; 22289921; 21109689\nPhenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM#\t613011; EBV associated B call lymphoproliferation, lymphoma\nReview for gene: ITK was set to GREEN\nAdded comment: At least three unrelated families reported. \nSources: Expert list",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:30:35.321811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF9 as ready",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:30:35.308875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf9 has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:30:13.658575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFRSF9 as Green List (high evidence)",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:30:13.645305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf9 has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:29:54.673382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF9 was added\ngene: TNFRSF9 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF9 were set to 30872117; 31501153\nPhenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection\nReview for gene: TNFRSF9 was set to GREEN\nAdded comment: Six unrelated individuals, two with same homozygous G109S missense variant, functional data. \nSources: Expert list",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:29:45.168211+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Dystonia - complex_RMH to Dystonia - complex\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-05T14:28:08.508305+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNFRSF9 as ready",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:28:08.499327+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf9 has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:28:04.535210+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNFRSF9 as Green List (high evidence)",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:28:04.522057+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnfrsf9 has been classified as Green List (High Evidence).",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:27:34.050432+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated individuals with same homozygous G109S missense variant, some functional data. \nSources: Expert list; to: Six unrelated individuals, two with same homozygous G109S missense variant, functional data. \r\nSources: Expert list",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:27:06.582978+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TNFRSF9: Changed rating: GREEN; Changed publications: 30872117, 31501153",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:26:07.924635+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF9 was added\ngene: TNFRSF9 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF9 were set to 30872117\nPhenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection\nReview for gene: TNFRSF9 was set to RED\nAdded comment: Two unrelated individuals with same homozygous G109S missense variant, some functional data. \nSources: Expert list",
"entity_name": "TNFRSF9",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:22:16.789423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTPS1 as ready",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:22:16.780187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctps1 has been classified as Green List (High Evidence).",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:22:07.959599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:21:53.620246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTPS1 were set to ",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:21:34.666604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:21:13.455082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:21:03.608302+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTPS1 as ready",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:21:03.595047+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctps1 has been classified as Green List (High Evidence).",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:20:24.900857+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTPS1 as ready",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:20:24.891780+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctps1 has been classified as Green List (High Evidence).",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:20:19.630457+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:19:56.230017+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTPS1 were set to ",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:19:30.516194+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:18:59.939668+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:18:37.014236+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTPS1 as Green List (high evidence)",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:18:37.000318+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctps1 has been classified as Green List (High Evidence).",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:18:05.117635+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTPS1 was added\ngene: CTPS1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTPS1 were set to 24870241\nPhenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM#\t615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma\nReview for gene: CTPS1 was set to GREEN\nAdded comment: At least 5 families reported. \nSources: Expert list",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:11:43.687792+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD27 as ready",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:11:43.674206+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:11:39.690561+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD27 as Green List (high evidence)",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:11:39.681141+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:11:06.120827+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD27 was added\ngene: CD27 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD27 were set to 22801960; 22197273\nPhenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM#\t615122\nReview for gene: CD27 was set to GREEN\nAdded comment: At least four families reported. \nSources: Expert list",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:03:43.756070+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB1 as ready",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:03:43.742251+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGFB1",
"entity_type": "gene"
}
]
}