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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=508",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=506",
"results": [
{
"created": "2023-12-07T18:01:37.808471+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATM as ready",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:01:37.793227+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatm has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:01:32.214348+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATM as Amber List (moderate evidence)",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:01:32.199893+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatm has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:00:54.638122+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATM was added\ngene: GATM was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GATM were set to 36856349; 12468279; 20682460; 22386973\nPhenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, MIM# 612718\nReview for gene: GATM was set to AMBER\nAdded comment: Seizures described in cerebral creatine disorders in general. \nSources: Expert Review",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:56:09.316420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA4 as ready",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:56:09.303458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Red List (Low Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:55:57.667944+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA4 was added\ngene: GABRA4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA4 were set to 35152403\nPhenotypes for gene: GABRA4 were set to Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related\nReview for gene: GABRA4 was set to RED\nAdded comment: Single individual with de novo missense variant reported, supportive functional data. \nSources: Literature",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:54:21.203691+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA4 as ready",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:54:21.194834+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Red List (Low Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:54:10.246526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRA4 was added\ngene: GABRA4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA4 were set to 35152403\nPhenotypes for gene: GABRA4 were set to Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related\nReview for gene: GABRA4 was set to RED\nAdded comment: Single individual with de novo missense variant reported, supportive functional data. \nSources: Literature",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:49:47.176917+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Amber List (moderate evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:49:47.168649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:49:38.732193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRA10AC1 as ready",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:49:38.698407+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:48:00.966244+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRA10AC1 as Amber List (moderate evidence)",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:48:00.939912+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:47:22.513586+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRA10AC1 was added\ngene: FRA10AC1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRA10AC1 were set to 34694367; 35871492; 35821753\nPhenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM#\t620113\nReview for gene: FRA10AC1 was set to AMBER\nAdded comment: 6 families reported, 10 individuals with neurodevelopmental phenotype. 2 had seizures. \nSources: Expert Review",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:33.358827+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:33.353150+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC name is PLAAT3",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:33.302995+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:17.700691+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: PLA2G16.",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:02.011216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:01.973085+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC name is PLAAT3",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:35:01.767244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:34:35.803966+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: PLA2G16.",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:34:15.926290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:34:15.918797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC name is PLAAT3",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:34:15.871184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:33:44.508770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: PLA2G16.",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:32:41.464880+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:32:41.460811+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name is PLAAT3",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:32:41.421737+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:32:26.313419+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: PLA2G16.",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:30:15.111348+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXL1 as ready",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:30:15.096661+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxl1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:30:09.576016+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXL1 as Red List (low evidence)",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:30:09.563060+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxl1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:29:29.818748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXL1 as ready",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:29:29.808637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxl1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:28:53.154197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXL1 as Red List (low evidence)",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:28:53.122009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxl1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXL1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:28:23.803746+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RANBP2 as ready",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:28:23.791026+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:12:04.670372+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2007",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: RBFOX1 was added\ngene: RBFOX1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX1 were set to PMID: 37962958\nPhenotypes for gene: RBFOX1 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related\nReview for gene: RBFOX1 was set to GREEN\nAdded comment: PMID: 37962958\r\nDe novo missense variants identified in six unrelated patients with neurodevelopmental disorder and severe seizures. \nSources: Literature",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-07T17:10:18.014474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1426",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: RBFOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37962958; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBFOX1",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:55:57.422515+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RANBP2 as Green List (high evidence)",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:55:57.409608+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ranbp2 has been classified as Green List (High Evidence).",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:52:25.584867+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RANBP2 was added\ngene: RANBP2 was added to Mitochondrial disease. Sources: Expert Review\nMode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033\nReview for gene: RANBP2 was set to GREEN\nAdded comment: Not a mitochondrial condition, but significant overlap in clinical presentation, described as Leigh-like previously. \nSources: Expert Review",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:25:35.666850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGP were changed from Keutel syndrome, MIM #245150 to Keutel syndrome, MIM #245150; Skeletal dysplasia MONDO:0018230, MGP-related",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:24:58.527318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1425",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGP were set to 9916809; 15810001; 33996798",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:24:34.184489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1424",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MGP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:23:39.286699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1423",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia to osteogenesis imperfecta, MONDO:0019019; Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:23:12.197826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1422",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF5B were set to PMID: 35342932; 36018820",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:22:46.038603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF5B: Added comment: Four additional patients with three distinct de-novo missense variants and features consistent with osteogenesis imperfecta. All variants are in the Kinesin motor domain (~50% of the protein). Functional data in C. Elegans and cell lines shows impaired protein function. Not clear what distinguishes OI causing variants from other phenotypes for this gene at this stage. Dominant negative effect proposed but not conclusively proven.; Changed publications: 37934770; Changed phenotypes: Skeletal dysplasia, MONDO:0018230, osteogenesis imperfecta, MONDO:0019019",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:21:31.706097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPF19 as ready",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:21:31.688415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prpf19 has been classified as Green List (High Evidence).",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:21:25.957916+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRPF19 as Green List (high evidence)",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:21:25.942778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prpf19 has been classified as Green List (High Evidence).",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:20:11.729851+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPF19 was added\ngene: PRPF19 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PRPF19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF19 were set to 37962958\nPhenotypes for gene: PRPF19 were set to Neurodevelopmental disorder (MONDO:0700092), PRPF19-related\nReview for gene: PRPF19 was set to GREEN\nAdded comment: PMID: 37962958 Six unrelated individuals with de novo variants. Five had speech language motor delay, four had formal diagnosis of autism, three hypotonia and one fetus with multiple congenital abnormalities. \nSources: Literature",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:19:50.139137+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPF19 was added\ngene: PRPF19 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PRPF19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRPF19 were set to 37962958\nPhenotypes for gene: PRPF19 were set to Neurodevelopmental disorder (MONDO:0700092), PRPF19-related\nReview for gene: PRPF19 was set to GREEN\nAdded comment: PMID: 37962958 Six unrelated individuals with de novo variants. Five had speech language motor delay, four had formal diagnosis of autism, three hypotonia and one fetus with multiple congenital abnormalities. \nSources: Literature",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:18:54.442354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPF19 as ready",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:18:54.430200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prpf19 has been classified as Green List (High Evidence).",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:17:49.395720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRPF19 as Green List (high evidence)",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:17:49.386964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1421",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prpf19 has been classified as Green List (High Evidence).",
"entity_name": "PRPF19",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:14:14.781318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP4 as ready",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:14:14.771128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:14:08.274752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP4 as Green List (high evidence)",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:14:08.266175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:13:47.038933+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP4 as ready",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:13:47.026826+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:13:39.016841+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP4 as Green List (high evidence)",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:13:38.927847+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:13:07.174099+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP4 as ready",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:13:07.163187+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:12:56.542177+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP4 as Green List (high evidence)",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:12:56.532827+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp4 has been classified as Green List (High Evidence).",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:12:28.336051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:12:28.321860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:12:24.001040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:11:49.722636+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:11:23.338772+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.176",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: PKP2: Changed phenotypes: Cardiomyopathy, MONDO:0004994, PKP2-related",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:11:12.208893+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLA2G16 as Green List (high evidence)",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:11:12.186208+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:10:23.694936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:10:23.683937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:10:15.251983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:10:06.250431+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.305",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, MONDO:0004994, PKP2-related; Mode of inheritance: None",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:09:54.356962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:09:35.652782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLA2G16 as Green List (high evidence)",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:09:35.643640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:09:09.402538+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:09:09.388942+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:09:00.438599+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.30",
"user_name": "Suliman Khan",
"item_type": "entity",
"text": "edited their review of gene: PKP2: Changed phenotypes: Cardiomyopathy, MONDO:0004994, PKP2-related",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:06:57.539952+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:06:25.641594+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:05:55.949091+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLA2G16 as Green List (high evidence)",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:05:55.934891+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:05:21.396024+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLA2G16 as ready",
"entity_name": "PLA2G16",
"entity_type": "gene"
},
{
"created": "2023-12-07T16:05:21.387114+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pla2g16 has been classified as Green List (High Evidence).",
"entity_name": "PLA2G16",
"entity_type": "gene"
}
]
}