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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1673",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1671",
"results": [
{
"created": "2020-08-14T20:21:29.968663+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf2 has been classified as Red List (Low Evidence).",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:21:27.605017+10:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF2 were set to ",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:11:56.511682+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF2 as ready",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:11:56.503118+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf2 has been classified as Red List (Low Evidence).",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:11:48.466813+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF2 was added\ngene: GDF2 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDF2 were set to 32618121\nPhenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops\nReview for gene: GDF2 was set to RED\nAdded comment: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT. \nSources: Literature",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:03:34.314067+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:02:47.295973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:02:28.780808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani-Weisz syndrome, MIM#618974",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:02:00.105583+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:01:26.175302+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani-Weisz syndrome, MIM#618974",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-08-14T20:01:14.523427+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani_Weisz syndrome, MIM#618974",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:57:34.128392+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2C19 were set to 27981572",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:56:38.418936+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2D6 were set to 18406467",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:55:20.710828+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP3A5 were set to 25801146",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:54:25.629990+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM#\t610460; Azathioprine; Mercaptopurine to {Thiopurines, poor metabolism of, 1}, MIM#\t610460; Azathioprine; Mercaptopurine; Thioguanines",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:53:39.428902+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HLA-B were set to 25099164; 23695185; 29392710",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:59.137964+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:59.127435+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:56.584286+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to Alpers syndrome",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:40.490519+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: POLG was changed from Other to None",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:28.765557+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Other to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:22.271507+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Amber List (moderate evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:22.263116+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:52:12.648219+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:58.447294+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYD as ready",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:58.436895+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:55.913135+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYD were changed from to Fluoropyrimidine",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:43.654403+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPYD as Amber List (moderate evidence)",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:43.644847+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:32.982288+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPYD: Changed rating: AMBER",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:47:17.425077+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29152729; Phenotypes: Fluoropyrimidine; Mode of inheritance: None",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:46:39.694906+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2D6 as ready",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:46:39.684284+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2d6 has been classified as Green List (High Evidence).",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:46:37.066492+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2D6 were changed from to Codeine, tramadol, oxycodone",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:46:17.373895+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP2D6 as Green List (high evidence)",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:46:17.359114+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2d6 has been classified as Green List (High Evidence).",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:46:06.642650+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP2D6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: Codeine, tramadol, oxycodone; Mode of inheritance: None",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:44:58.125287+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP2C19 as ready",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:44:58.117549+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2c19 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:44:55.889180+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP2C19 were changed from to Voriconazole",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:44:44.255155+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP2C19 as Green List (high evidence)",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:44:44.245960+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp2c19 has been classified as Green List (High Evidence).",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:44:31.946729+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386; Phenotypes: Voriconazole; Mode of inheritance: None",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T18:43:30.587176+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CFTR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-14T14:35:15.192482+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: PMID 29392710\r\nHLA-B*15:02 positive: \r\nGreater risk of carbamazepine-induced SJS/TEN. \r\nGreater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710\r\nHLA-B*15:02 positive: \r\nGreater risk of carbamazepine-induced SJS/TEN. \r\nGreater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701 and Abacavir hypersensitivity.\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:32:00.859678+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "commented on gene: TPMT",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:30:53.244591+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: (27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\"\t\r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"\t\r\n\r\n(23698643)\r\nClopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).\r\nPoor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events. \r\nSources: Other; to: (27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\"\t\r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"\t",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:25:13.001259+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: POLG was set to Other\nPublications for gene: POLG were set to 20138553\nMode of pathogenicity for gene: POLG was set to Other\nAdded comment: \"POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders\" \nSources: Other",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:20:21.435012+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: DPYD was added\ngene: DPYD was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: DPYD was set to Other\nPublications for gene: DPYD were set to 29152729\nMode of pathogenicity for gene: DPYD was set to Other\nAdded comment: Fluoropyrimidine Dosing \nSources: Other",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:18:05.536767+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: (24458010)\r\nStrong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser. \r\nInsensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.\r\n\r\nGenotype-phenotype concordance from 2 weeks of age (18406467) ; to: PMID: 18406467\r\nGenotype-phenotype concordance from 2 weeks of age \r\n\r\nPMID: 24458010\r\nStrong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser. \r\nInsensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:15:14.053725+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: PMID 29392710\r\nHLA-B*15:02 positive: \r\nGreater risk of carbamazepine-induced SJS/TEN. \r\nGreater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710\r\nHLA-B*15:02 positive: \r\nGreater risk of carbamazepine-induced SJS/TEN. \r\nGreater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nPMID: 23232549\r\nCarrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:09:12.719365+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: PMID 29392710\r\nHLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710\r\nHLA-B*15:02 positive: \r\nGreater risk of carbamazepine-induced SJS/TEN. \r\nGreater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:06:14.670835+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:06:05.730073+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n(26094938)\r\n\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710\r\nHLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN\r\n\r\nPMID 26094938\r\nStrong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T14:04:53.373444+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Carbamazepine/Oxcarbazapine.\r\nHLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). \r\nHLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: PMID 29392710\r\nHLA-A*31:01 positive: Greater risk of carbamazepine-induced SJS/TEN, DRESS, and MPE (maculopapular exanthema)",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:58:15.128101+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Carbamazepine/Oxcarbazapine.\r\nAt least one copy of either HLA-B*15:02 or HLA-A*31:01 associated with increased risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). \r\nHLA-A*31:01 also associated with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: Carbamazepine/Oxcarbazapine.\r\nHLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). \r\nHLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:44:10.741320+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS3 as ready",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:44:10.732148+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:44:05.782536+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS3 as Amber List (moderate evidence)",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:44:05.772562+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:43:34.435204+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS3 was added\ngene: ADAMTS3 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS3 were set to 30450763; 28985353\nPhenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, MIM#\t618154\nReview for gene: ADAMTS3 was set to AMBER\nAdded comment: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. \nSources: Expert list",
"entity_name": "ADAMTS3",
"entity_type": "gene"
},
{
"created": "2020-08-14T13:00:32.223808+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "commented on gene: HLA-A",
"entity_name": "HLA-A",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:25:23.804763+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: (24458010)\r\nStrong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser. \r\nInsensitivity to codeine (tramadol, oxycodone) if poor metaboliser.\r\n\r\nGenotype-phenotype concordance from 2 weeks of age (18406467) ; to: (24458010)\r\nStrong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser. \r\nInsensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.\r\n\r\nGenotype-phenotype concordance from 2 weeks of age (18406467) ",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:19:36.475186+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).\r\n\r\nVoriconazole: Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:18:08.583205+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742).\r\n\r\nIncreased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).\r\n\r\nVoriconazole: Increased success cf. historical controls (PMID 31549386)",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:17:50.960860+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742); to: Improved time to target concentration with genotype directed dosing (PMID 26616742).\r\n\r\nIncreased success cf. historical controls (PMID 31549386)",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:16:20.724731+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "edited their review of gene: CYP2C19: Added comment: Improved time to target concentration with genotype directed dosing (PMID 26616742); Changed publications: 27981572, 26616742",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:07:56.948875+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "edited their review of gene: HLA-B: Added comment: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN\r\n(26094938)\r\n\r\n\r\nHLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).\t\r\nhttps://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; Changed publications: 26094938",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:03:15.805118+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "commented on gene: HLA-B",
"entity_name": "HLA-B",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:02:13.847759+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-08-14T12:01:33.859056+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: CFTR was set to Other\nMode of pathogenicity for gene: CFTR was set to Other\nAdded comment: CF genotype responsive to Ivacaftor \nSources: Other",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-08-14T11:34:16.484922+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: Genotype-phenotype concordance from 2 weeks of age (18406467) \nSources: Other; to: (24458010)\r\nStrong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser. \r\nInsensitivity to codeine (tramadol, oxycodone) if poor metaboliser.\r\n\r\nGenotype-phenotype concordance from 2 weeks of age (18406467) ",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T11:28:28.074881+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: (32189324)\r\nNote poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.\r\n\"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of\r\ntherapy will depend on individual patient treatment goals and risks for toxicity.\"\r\nProbably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.; to: (32189324)\r\nNote poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.\r\n\"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of therapy will depend on individual patient treatment goals and risks for toxicity.\"\r\nProbably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-08-14T11:28:19.606862+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "commented on gene: CYP2C9: (32189324)\r\nNote poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.\r\n\"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of\r\ntherapy will depend on individual patient treatment goals and risks for toxicity.\"\r\nProbably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-08-14T11:22:02.570819+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "changed review comment from: (27981572)\r\nVoriconazole, moderate level evidence.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\"\t\r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"\t\r\n\r\n(23698643)\r\nClopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).\r\nPoor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events. \nSources: Other; to: (27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\"\t\r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"\t\r\n\r\n(23698643)\r\nClopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).\r\nPoor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events. \r\nSources: Other",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T11:20:52.259988+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: CYP2C19 was added\ngene: CYP2C19 was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: CYP2C19 was set to Other\nPublications for gene: CYP2C19 were set to 27981572\nAdded comment: (27981572)\r\nVoriconazole, moderate level evidence.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\"\t\r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"\t\r\n\r\n(23698643)\r\nClopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).\r\nPoor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events. \nSources: Other",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:57:33.836360+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "commented on gene: CYP3A5: Reduced bioavailability/clearance of tacrolimus.\r\nAssociation with negative outcomes in kidney transplantation.",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:33:04.813676+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "reviewed gene: CYP2C9: Rating: ; Mode of pathogenicity: None; Publications: 18406467; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CYP2C9",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:31:11.593532+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "gene: CYP2D6 was added\ngene: CYP2D6 was added to Pharmacogenomics_Paediatric. Sources: Other\nMode of inheritance for gene: CYP2D6 was set to Other\nPublications for gene: CYP2D6 were set to 18406467\nAdded comment: Genotype-phenotype concordance from 2 weeks of age (18406467) \nSources: Other",
"entity_name": "CYP2D6",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:24:21.454893+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:24:21.441898+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:24:12.804531+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA2 as Amber List (moderate evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:24:12.796007+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:21:57.593290+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA2 were set to 21892158\nPhenotypes for gene: GATA2 were set to Emberger syndrome, MIM#\t614038\nReview for gene: GATA2 was set to AMBER\nAdded comment: Typically presents with lower limb oedema but at least one presentation with hydrops reported. \nSources: Expert list",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:13:09.761013+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:13:09.750969+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Red List (Low Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:13:02.222121+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UROS was added\ngene: UROS was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UROS were set to 24027798\nPhenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, MIM#\t263700\nReview for gene: UROS was set to RED\nAdded comment: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports. \nSources: Expert list",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:12:07.534868+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.33",
"user_name": "David Metz",
"item_type": "entity",
"text": "reviewed gene: CYP3A5: Rating: ; Mode of pathogenicity: None; Publications: 25201288; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CYP3A5",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:05:16.240357+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX18 as ready",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:05:16.229243+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox18 has been classified as Green List (High Evidence).",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:05:12.375650+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX18 as Green List (high evidence)",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:05:12.365778+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox18 has been classified as Green List (High Evidence).",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:04:43.857983+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SOX18 were set to 12740761; 26631803\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM#\t607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM#\t137940\nReview for gene: SOX18 was set to GREEN\nAdded comment: Prenatal onset with hydrops reported in at least two cases. \nSources: Expert list",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:01:14.879716+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease. \nSources: Expert list; to: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. One identified for NPC2-associated disease. \r\nSources: Expert list",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2020-08-14T10:01:06.013627+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NPC2: Changed publications: 29928259; Changed phenotypes: Niemann-pick disease, type C2, MIM# 607625",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:51:47.480578+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:51:47.469238+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:51:38.466594+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC22A5 were set to 16010481\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#\t212140\nReview for gene: SLC22A5 was set to RED\nAdded comment: Single case report identified. \nSources: Expert list",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:38:21.727723+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS26 as ready",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2020-08-14T09:38:21.719329+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps26 has been classified as Red List (Low Evidence).",
"entity_name": "RPS26",
"entity_type": "gene"
}
]
}