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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=411",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=409",
"results": [
{
"created": "2024-08-08T07:36:13.500554+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from Epileptic encephalopathy, early infantile, 71, MIM#\t618328 to Epileptic encephalopathy, early infantile, 71, MIM# 618328; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:35:25.803906+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLS were set to 30575854",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:34:43.569489+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:34:01.066630+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLS as Green List (high evidence)",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:34:01.055957+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gls has been classified as Green List (High Evidence).",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:33:16.875723+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLS: Added comment: PMID 38622440: additional individual reported with bi-allelic variants.\r\n\r\nNote GoF variants also postulated to cause a neurodevelopmental phenotype, including seizures, though evidence is more limited, PMID 37151363. Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed rating: GREEN; Changed publications: 30575854, 38622440, 37151363; Changed phenotypes: Epileptic encephalopathy, early infantile, 71, MIM# 618328, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:30:04.799139+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from Infantile cataracts to Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:29:41.406061+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GLS was changed from None to Other",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:29:16.982039+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:28:40.450787+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLS: Changed phenotypes: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:27:05.699678+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLS were set to 29468182; 30575854; 30970188; 16641247; 30239721, 37151363",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:26:54.401199+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLS were changed from glutaminase deficiency MONDO:0600001 to Glutaminase deficiency MONDO:0600001; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:26:42.716401+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:26:13.392805+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:25:58.174006+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaminase deficiency MONDO:0600001, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLS",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:21:20.426481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACOX2 were set to 27647924; 27884763",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:20:21.000952+10:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACOX2 were set to 27647924; 27884763; 29287774",
"entity_name": "ACOX2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:18:14.542169+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN2 as Red List (low evidence)",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:18:14.531963+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn2 has been classified as Red List (Low Evidence).",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:17:43.255422+10:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN2: Changed rating: RED",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:17:03.506560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLDN2 as Red List (low evidence)",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:17:03.490212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn2 has been classified as Red List (Low Evidence).",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:15:54.471398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Azoospermia and nephrolithiasis: single multigenerational family reported.; to: Azoospermia and nephrolithiasis: single multigenerational family reported.\r\n\r\nLIMITED by ClinGen.",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:15:40.352258+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Pancreatitis: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.; to: Pancreatitis: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype; have calciuria. Likely polygenic susceptibility rather than Mendelian disorder.",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:15:17.958862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Azoospermia: single multigenerational family reported.; to: Azoospermia and nephrolithiasis: single multigenerational family reported.",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-08T07:15:04.692417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN2: Changed rating: RED",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2024-08-07T17:34:34.795497+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM#615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2024-08-07T17:28:15.872864+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM#610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2024-08-07T17:10:10.777736+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2024-08-07T17:09:53.974018+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928, 23111928; Phenotypes: Seckel syndrome 1(MIM#210600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-08-07T17:05:48.037918+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:44:59.282134+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690, 36326140; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:37:19.127336+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28180185, 29390050, 29659736; Phenotypes: Hyperekplexia 4, MIM#618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ATAD1",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:30:48.589872+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25987178, 23348427, 33195324; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:19:18.158740+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\nInborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.\r\nSevere condition with congenital onset, leads to liver failure.; to: Well established gene-disease association.\r\nInborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.\r\nSevere condition with congenital onset, leads to liver failure.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:19:09.327955+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:14:09.350745+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631309, 22205389, 32221959; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:11:06.199068+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:08:31.200113+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.39",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Missense variants within the MH2 domain have been suggested to exert dominant negative mechanism by disprupting the formation of homo-oligomers (PMID: 30661052) Loss-of-function proven for PTCs (PMID: 30661052)\r\n\r\n\"Definitive\" by ClinGen Aortopathy working group. \nSources: Literature; to: PMID: 32897753\r\n1x individual with SCAD, canonical splice variant\r\n\r\nPMID: 29650765\r\n1x individual with SCAD, missense D258H absent in gnomad v4\r\n\r\nPMID: 33125268\r\n2x individuals with SCAD, 1x start loss and 1x fs\r\n\r\nPMID: 33190788\r\n1x individual with another variant in MYH11\r\n\r\nSources: Literature",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:03:15.502153+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.39",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: SMAD2 were set to 29967133",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:03:06.144882+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.38",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: SMAD2: Changed publications: 32897753, 30448172",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:03:02.070996+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.38",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: SMAD2: Changed publications: PMID: 32897753, 30448172",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-08-07T16:02:49.226843+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.38",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome. \nSources: Literature; to: PMID: 32897753\r\n3x individuals with SCAD, all missense and absent/1 het in gnomad v4\r\n\r\nPMID: 30448172\r\n1x individual with a missense, absent in gnomad v4\r\n\r\nSources: Literature",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:34:20.621836+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.38",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: MYLK were set to 30071989; 27586135; 21055718; 25907466",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:34:14.497653+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.37",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MYLK as Amber List (moderate evidence)",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:34:14.482091+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.37",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mylk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:33:22.193062+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.36",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MYLK: Changed rating: AMBER; Changed publications: 33125268; Changed phenotypes: Aortic aneurysm, familial thoracic 7 MIM#613780",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:33:08.459242+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.36",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Association between variants in this gene and aortic dissection established in multiple individuals and a 5-generation family (PMID 27586135;21055718;25907466).\r\n\r\n\"Definitive\" by Clingen Aortopathy Working Group. \nSources: Literature; to: PMID: 33125268\r\n1x SCAD individual with a stop gain\r\n\r\n1x indiv from google search (https://medwinpublishers.com/CRIJ/unraveling-the-genetic-complexity-a-case-report-of-mylk-gene-mutation-in-a-patient-with-scad.pdf) \r\nhowever, the specific variant was not provided - Authors said 'a VUS was identified'\r\n\r\nOther papers from Google cite PMID: 33125268\r\n\r\nRed/Amber rating, amber so as to not miss a diagnosis\r\n\r\nSources: Literature",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:19:35.264838+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.36",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: LOX were set to 30071989; 26838787; 30675029.",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:19:29.055940+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.35",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: LOX as Amber List (moderate evidence)",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:19:29.042594+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.35",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: lox has been classified as Amber List (Moderate Evidence).",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:19:21.300242+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.34",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: LOX: Changed rating: AMBER; Changed publications: 32897753, 36103205; Changed phenotypes: Aortic aneurysm, familial thoracic 10 MIM#617168",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-08-07T15:19:05.418469+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.34",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Reviewed as having 'strong' gene-disease association by the HTAAD working group, based on ClinGen framework (PMID: 30071989).\r\n\r\nMissense and nonsense variants described in six unrelated families with HTAAD and functional studies of three missense variants demonstrated a reduction in LOX activity (Guo et.al. (2016); PMID: 26838787).\r\n\r\nTwo further individuals with negative family history: one individual has pathogenic nonsense variant and second individual has VUS missense variant (Renner et al. (2019); PMID: 30675029). \nSources: Literature; to: PMID: 32897753\r\n1x with circumflex coronary artery, possibly the same individual reported in PMID: 33125268\r\nMet298Arg is absent in gnomad\r\n\r\nPMID: 36103205\r\n1x however, the missense was curated as benign (97 hets in gnomad v4)\r\n\r\nRed/Amber rating - amber so as to not miss a diagnosis\r\n\r\nSources: Literature",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-08-07T14:51:45.276229+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336, 7842019, 8981948; Phenotypes: Menkes disease(MIM#309400), Occipital horn syndrome(MIM#304150); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2024-08-07T12:46:20.113394+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868101, 21362476, 31588715, 22388936; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2024-08-07T12:15:42.552208+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452193, 19332161, 19770472, 27250695, 29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive (MIM#608716); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:24:01.941535+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.34",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: \r\n\r\nPMID: 32897753\r\n1x individual with left anterior descending coronary artery\r\n\r\nSources: Literature\r\n\r\n; to: borderline red/amber but amber so as to not miss a diagnosis\r\n\r\nPMID: 32897753\r\n1x individual with left anterior descending coronary artery\r\n\r\nSources: Literature\r\n\r\n",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:23:27.040291+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.34",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from periventricular heterotopia 1\tMIM#300049 to Spontaneous coronary artery dissection",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:11:34.802959+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.33",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: FLNA as Amber List (moderate evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:11:34.784713+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.33",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: flna has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:11:27.624528+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: FLNA: Changed publications: 32897753",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:11:10.445330+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). \r\n\r\nPMID: 32897753\r\n1x individual with left anterior descending coronary artery\r\n\r\nSources: Literature\r\n\r\n; to: \r\n\r\nPMID: 32897753\r\n1x individual with left anterior descending coronary artery\r\n\r\nSources: Literature\r\n\r\n",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:09:38.454604+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: FLNA: Changed rating: AMBER; Changed publications: 29334594, 32897753; Changed phenotypes: periventricular heterotopia 1 MIM#300049",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T11:09:30.428518+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). \nSources: Literature; to: Large review of 114 patients with loss-of-function FLNA mutations with periventricular nodular heterotopia (PVNH), found that most subjects had a cardiac anomaly or vascular abnormality (64.9%). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4%, and were associated with other structural cardiac malformations in 57.1% of patients (Chen et al. 2018; PMID: 29334594). \r\n\r\nPMID: 32897753\r\n1x individual with left anterior descending coronary artery\r\n\r\nSources: Literature\r\n\r\n",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-07T10:56:49.104772+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: FBN1: Changed publications: 29357934, 34842564, 35092149; Changed phenotypes: Marfan syndrome MIM#154700, familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-08-07T10:56:35.927797+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ).\r\n\r\ndefinitive by clingen curation \nSources: Literature; to: Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ).\r\n\r\ndefinitive by clingen curation \r\n\r\nat least 3x individuals with Marfan + FBN1 variant have been reported with SCAD\r\nPMID: 34842564, 35092149\r\n\r\nSources: Literature",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-08-07T10:13:31.806912+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL5A1: Changed publications: 32938213, 35234813; Changed phenotypes: Ehlers-Danlos syndrome, classic type, 1 MIM#130000, Fibromuscular dysplasia, multifocal MIM#619329",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-08-07T10:13:18.806354+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.\r\n(https://www.ncbi.nlm.nih.gov/books/NBK1244/)\r\n\r\nMultifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur.\r\n\r\n4 unrelated individuals reported, but all had the same variant, p.Gly514Ser, and haplotype analysis was consistent with founder effect. Further rare missense variants were identified in a cohort, although limited information available. \nSources: Literature; to: GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.\r\n(https://www.ncbi.nlm.nih.gov/books/NBK1244/)\r\n\r\nSCAD individuals with variants in COL5A1 have been reported\r\nPMID: 35234813\r\n \r\nSources: Literature",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2024-08-07T09:32:29.680505+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183 12960215 16813601 11997520 20202148 11430819; Phenotypes: Wolcott-Rallison syndrome MIM#226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-08-07T09:12:02.250245+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741 29127725 23972372 28289185; Phenotypes: Orofaciodigital syndrome V MIM#174300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDX59",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:55:06.416066+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL3A1: Changed publications: 30071989, 32897753, 35234813",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:54:55.942528+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Classified as Definitive by Clingen for heritable thoracic aortic aneurysm and dissection; Ehlers-Danlos syndrome, vascular type. \nSources: Literature; to: Classified as Definitive by Clingen for heritable thoracic aortic aneurysm and dissection; Ehlers-Danlos syndrome, vascular type. \r\n\r\nSeveral individuals with SCAD have also been reported with variants in COL3A1\r\nPMID: 32897753\r\nPMID: 36103205\r\nPMID: 35234813\r\n\r\n\r\nSources: Literature",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:51:14.703617+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10915612 9489699 12552055 20301364 14625554; Phenotypes: Lissencephaly, X-linked MIM#300067, Subcortical laminal heterotopia, X-linked MIM#300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:43:33.027580+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: COL3A1: Changed publications: 30071989, 32897753; Changed phenotypes: Ehlers-Danlos syndrome, vascular type MIM#130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:41:29.499507+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821 32006740 29034544 26914923 24337409 28725025; Phenotypes: Spastic paraplegia 56, autosomal recessive MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:25:15.036791+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association. Congenital onset. More than 100 families reported. Mechanism impacts hormone production in gonads and adrenal glands. Phenotype typically includes hypertension, low blood potassium, and abnormal development of sexual characteristics including genitalia (disorder of sexual development) in both males and females. Phenotypic spectrum for those affected is variable.; to: Established gene-disease association. Congenital onset. More than 100 families reported. Mechanism impacts hormone production in gonads and adrenal glands. Phenotype typically includes hypertension, low blood potassium, and abnormal development of sexual characteristics including genitalia (disorder of sexual development) in both males and females. Phenotypic spectrum of severity for those affected is variable.",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2024-08-07T08:24:02.476977+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762 14671162 2026124 35178494 35043964; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2024-08-06T17:59:41.698300+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15107842, 17356545, 28883096, 17395513, 16151902; Phenotypes: Congenital disorder of glycosylation, type IIe, MIM # 608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-08-06T17:28:30.299173+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28374019, 29511323, 29882456, 27668699; Phenotypes: Lethal congenital contracture syndrome 7, MIM # 616286, Hypomyelinating neuropathy, congenital, 3, MIM # 618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTNAP1",
"entity_type": "gene"
},
{
"created": "2024-08-06T17:08:48.511627+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM # 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:57:49.302792+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22581229, 32447765, 31858719, 28790179; Phenotypes: Primary ciliary dyskinesia-17, MIM # 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:41:29.412853+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453666, 29383837, 31853307; Phenotypes: Temtamy syndrome, MIM # 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:27:15.701263+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CNNM4 as ready",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:27:15.686343+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cnnm4 has been classified as Green List (High Evidence).",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:27:10.772842+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.82",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CNNM4 were set to ",
"entity_name": "CNNM4",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:26:10.221536+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.81",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CNGB3 as ready",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:26:10.207432+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.81",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cngb3 has been classified as Green List (High Evidence).",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:25:01.193608+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.81",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CNGB3 were set to ",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:24:29.937367+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.80",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CNGB3.",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:22:55.872323+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.80",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CLP1 as ready",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:22:55.856337+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.80",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: clp1 has been classified as Green List (High Evidence).",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:22:50.419005+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.80",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CLP1 were set to ",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:21:25.003609+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.79",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: B3GAT3 as ready",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:21:24.989025+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.79",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: b3gat3 has been classified as Green List (High Evidence).",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:21:21.748311+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.79",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: B3GAT3 were set to ",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:19:56.279898+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.78",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:19:56.263083+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.78",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:19:52.576342+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.78",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:17:52.710362+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.77",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CLDN1 as ready",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2024-08-06T16:17:52.701003+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.77",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cldn1 has been classified as Green List (High Evidence).",
"entity_name": "CLDN1",
"entity_type": "gene"
}
]
}