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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1865",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1863",
"results": [
{
"created": "2020-04-13T21:40:05.839954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX11 were changed from to Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:39:50.145226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX11 were set to ",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:39:36.208784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:39:15.336738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data. \nSources: Expert list; to: Coffin-Siris syndrome: two individuals with de novo mono-allelic missense variants in this gene, mouse model.\r\nCAKUT: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data. \r\nSources: Expert list",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:38:07.711882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOX11: Changed rating: GREEN; Changed phenotypes: Coffin-Siris syndrome 9, MIM# 615866, Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:34:11.300365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAM22 as ready",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:34:11.269670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:34:01.799051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAM22 as Amber List (moderate evidence)",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:34:01.789818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adam22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:32:21.924912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA12 as ready",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:32:21.911082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa12 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFA12",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:30:56.255327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXB6 as Amber List (moderate evidence)",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:30:56.246483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:17:45.642718+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCRB as ready",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:17:45.629176+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcrb has been classified as Green List (High Evidence).",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:17:42.926714+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:17:19.243683+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCRB were set to ",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:16:51.296084+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:14:01.595840+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UQCRB: Added comment: Three families, two had the same variant. Functional data.; Changed publications: 23281071, 28275242, 12709789, 25446085, 23454382",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:11:26.721792+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:09:28.378798+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAK1 as ready",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:09:28.365011+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trak1 has been classified as Green List (High Evidence).",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:09:23.793624+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAK1 as Green List (high evidence)",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:09:23.785045+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trak1 has been classified as Green List (High Evidence).",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-13T18:08:55.234367+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAK1 was added\ngene: TRAK1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745\nPhenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201\nReview for gene: TRAK1 was set to GREEN\nAdded comment: Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion. \nSources: Expert list",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:53:13.721306+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:51:17.192860+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHB were set to 22972948; 26925370",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:50:30.656920+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SDHB as Green List (high evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:50:30.643518+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Green List (High Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:49:40.610924+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDHB: Changed rating: GREEN",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:49:25.696439+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families reported. Note in second family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:48:30.737898+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SDHB: Changed publications: 22972948, 26925370, 27604842",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:42:50.468544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QRSL1 as ready",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:42:50.453915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qrsl1 has been classified as Green List (High Evidence).",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:42:41.731917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:42:21.566488+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QRSL1 were set to ",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:42:01.327391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:41:34.751431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:40:24.373678+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QRSL1 as ready",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:40:24.363579+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qrsl1 has been classified as Green List (High Evidence).",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:40:16.384351+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:39:48.207627+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QRSL1 were set to ",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:39:24.301630+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:38:51.749763+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QRSL1",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:34:48.453025+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPCS as ready",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:34:48.439434+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:34:43.819200+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPCS as Amber List (moderate evidence)",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:34:43.810234+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:33:44.850476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPCS as ready",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:33:44.841996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:33:00.275507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, MIM# 618189",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:32:41.041921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPCS were set to ",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:32:25.138046+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ETFB as Amber List (moderate evidence)",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:32:25.124038+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etfb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:32:20.155207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:32:00.337128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPCS as Amber List (moderate evidence)",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:32:00.327589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:31:35.587199+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation. \nSources: Expert list; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein; cardiac dysfunction in Drosophila model. \r\nSources: Expert list",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:31:09.562952+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACADM as Green List (high evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:31:09.553906+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:31:00.811954+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; to: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency. >3 cases reported.",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:30:43.167601+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: ACADM: Added comment: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; Changed rating: GREEN; Changed publications: 7876853, 12897989, 20049534",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:30:37.202543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:30:17.458754+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPCS was added\ngene: PPCS was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPCS were set to 29754768\nPhenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189\nReview for gene: PPCS was set to AMBER\nAdded comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model. \nSources: Expert list",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:26:20.720738+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:22:46.495629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:21:45.157632+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPCS as ready",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:21:45.148844+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:21:40.255127+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPCS as Amber List (moderate evidence)",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:21:40.246565+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:20:06.743580+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPCS was added\ngene: PPCS was added to Dilated Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPCS were set to 29754768\nPhenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM#\t618189\nReview for gene: PPCS was set to AMBER\nAdded comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation. \nSources: Expert list",
"entity_name": "PPCS",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:09:35.903076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PET117 as ready",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:09:35.890087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pet117 has been classified as Red List (Low Evidence).",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-04-13T17:09:23.741526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PET117 was added\ngene: PET117 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PET117 were set to 28386624\nPhenotypes for gene: PET117 were set to Developmental delay; Regression; Complex IV deficiency\nReview for gene: PET117 was set to RED\nAdded comment: Two siblings reported, some functional data. PET117 postulated to be a Complex IV assembly factor. \nSources: Expert list",
"entity_name": "PET117",
"entity_type": "gene"
},
{
"created": "2020-04-13T14:31:57.167401+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.1",
"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": "2020-04-13T10:15:30.827642+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:15:05.189409+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:14:27.473906+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:14:27.460419+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Green List (High Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:13:45.682763+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:12:39.390760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:12:17.450405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:11:54.390211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:11:54.376880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Green List (High Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:11:20.604437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:10:23.547979+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:09:46.319069+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:09:14.507119+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:09:14.497239+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Green List (High Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:08:42.165995+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:08:27.010885+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:07:58.697785+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:05:48.352650+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP188 as Green List (high evidence)",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:05:48.338970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup188 has been classified as Green List (High Evidence).",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:05:11.932579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Additional 6 unrelated individuals reported, promoted to Green.; to: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-13T10:04:47.352754+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation",
"entity_name": "NUP188",
"entity_type": "gene"
},
{
"created": "2020-04-12T21:50:47.448512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMTC2 as ready",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2020-04-12T21:50:47.439862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmtc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2020-04-12T21:50:37.624128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMTC2 were changed from to Deafness",
"entity_name": "TMTC2",
"entity_type": "gene"
},
{
"created": "2020-04-12T21:50:19.979333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMTC2 were set to ",
"entity_name": "TMTC2",
"entity_type": "gene"
}
]
}