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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=630",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=628",
"results": [
{
"created": "2023-03-14T14:19:59.581483+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: AFG3L2 was added\ngene: AFG3L2 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AFG3L2 were set to 32237276\nPhenotypes for gene: AFG3L2 were set to ataxia; visual impairment; neuroregression\nReview for gene: AFG3L2 was set to GREEN\ngene: AFG3L2 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2023-03-14T14:15:42.966996+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "edited their review of gene: SCP2: Changed rating: AMBER",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-14T14:15:28.212446+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 35996156; Phenotypes: progressive bulbar dysfunction, dementia, azoospermia, cardiac dysrhythmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-14T13:37:43.146371+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "changed review comment from: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).\r\n\r\nTreat uridine\r\nVery rare only 20 cases but treatable. \nSources: Expert list; to: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).\r\n\r\nBetter check with John who wrote the paper!! PMID: 25030255\r\n\r\nTreat uridine\r\nVery rare only 20 cases but treatable. \r\nSources: Expert list",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-14T13:22:15.342887+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: UMPS was added\ngene: UMPS was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UMPS were set to PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760\nPhenotypes for gene: UMPS were set to Orotic aciduria\tMIM#258900\nReview for gene: UMPS was set to GREEN\nAdded comment: megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).\r\n\r\nTreat uridine\r\nVery rare only 20 cases but treatable. \nSources: Expert list",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:54:01.147705+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: UNG was added\ngene: UNG was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNG were set to PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315\nPhenotypes for gene: UNG were set to Immunodeficiency with hyper IgM, type 5 MIM#608106\nReview for gene: UNG was set to RED\nAdded comment: normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations.\r\nsusceptibility to bacterial infections, lymphoid hyperplasia\r\nonly 3 patients reported in a single paper ?\r\nRx immunoglobulin replacement according to Rx genes but I can't find actual papers - i don't think there is enough evidence regarding age of onset or treatability. \nSources: Expert list",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:31:14.011787+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HELLS as ready",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:31:14.002900+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:31:06.447481+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HELLS as Green List (high evidence)",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:31:06.403689+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hells has been classified as Green List (High Evidence).",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:30:56.650507+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: HELLS.\nTag immunological tag was added to gene: HELLS.",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:30:41.115489+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HELLS was added\ngene: HELLS was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911\nReview for gene: HELLS was set to GREEN\nAdded comment: Congenital onset.\r\n\r\nImmunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable. At least 4 unrelated families reported.\r\n\r\nTreatment: bone marrow transplant. \nSources: Expert list",
"entity_name": "HELLS",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:26:02.697824+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP18 as ready",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:26:02.680511+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:25:56.930025+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP18 as Amber List (moderate evidence)",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:25:56.913177+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:25:43.775081+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: USP18: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:24:41.685714+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VKORC1 as ready",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:24:41.678524+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vkorc1 has been classified as Green List (High Evidence).",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:24:32.485510+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VKORC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:24:15.091817+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VKORC1 as Green List (high evidence)",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:24:15.074317+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vkorc1 has been classified as Green List (High Evidence).",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:24:04.561114+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: VKORC1.\nTag haematological tag was added to gene: VKORC1.",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:23:51.952149+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:22:41.534642+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR1 as ready",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:22:41.520634+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:22:31.854800+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR1 as Green List (high evidence)",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:22:31.846199+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr1 has been classified as Green List (High Evidence).",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2023-03-14T12:22:21.118096+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: WDR1.\nTag immunological tag was added to gene: WDR1.\nTag haematological tag was added to gene: WDR1.",
"entity_name": "WDR1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:56:22.453688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores, MIM#161800; Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Myopathy, congenital, with fiber-type disproportion 1, MIM#255310; Nemaline myopathy 3, MIM#161800; ?Myopathy, scapulohumeroperoneal to Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278; Myopathy, actin, congenital, with cores, MIM#161800; Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Myopathy, congenital, with fiber-type disproportion 1, MIM#255310; Nemaline myopathy 3, MIM#161800; ?Myopathy, scapulohumeroperoneal",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:55:55.454767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:30:16.231956+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPIHBP1 as ready",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:30:16.213407+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpihbp1 has been classified as Green List (High Evidence).",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:30:04.000809+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPIHBP1 as Green List (high evidence)",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:30:03.987900+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpihbp1 has been classified as Green List (High Evidence).",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:29:54.070766+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GPIHBP1.\nTag metabolic tag was added to gene: GPIHBP1.",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:27:56.733340+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPIHBP1 was added\ngene: GPIHBP1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPIHBP1 were set to 31390500\nPhenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome\nReview for gene: GPIHBP1 was set to GREEN\nAdded comment: Well-established gene-disease association.\r\n\r\nUsually presents in childhood with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly.\r\n\r\nApproximately 25% of affected children develop symptoms before age one year and the majority develop symptoms before age ten years; however, some individuals present for the first time during pregnancy.\r\n\r\nTreatment: volanesorsen, dietary fat restriction\r\n\r\nNon-genetic confirmatory testing: triglyceride level \nSources: Expert list",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:18:23.080763+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHRHR as ready",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:18:23.073184+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghrhr has been classified as Green List (High Evidence).",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:18:18.161371+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHRHR as Green List (high evidence)",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:18:18.153659+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghrhr has been classified as Green List (High Evidence).",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:18:07.823001+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GHRHR.\nTag endocrine tag was added to gene: GHRHR.",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:17:53.893154+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHRHR was added\ngene: GHRHR was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GHRHR were set to 8528260; 10084571; 11232012\nPhenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV, MIM# 618157\nReview for gene: GHRHR was set to GREEN\nAdded comment: IGHD type IV is characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I and IGF-binding protein-3 concentrations, and a good response to growth hormone treatment. At least three unrelated families reported.\r\n\r\nNon-genetic confirmatory testing: growth hormone stimulation test \nSources: Expert list",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:10:51.132066+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GHR as ready",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:10:51.114697+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghr has been classified as Green List (High Evidence).",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:10:45.514433+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GHR as Green List (high evidence)",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:10:45.502122+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ghr has been classified as Green List (High Evidence).",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:10:35.344178+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GHR.\nTag endocrine tag was added to gene: GHR.",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:10:22.310302+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHR was added\ngene: GHR was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GHR were set to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500\nReview for gene: GHR was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nCongenital onset.\r\n\r\nTreatment: growth hormone.\r\n\r\nNon-genetic confirmatory testing: growth hormone stimulation test \nSources: Expert list",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:07:48.462830+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GH1 as ready",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:07:48.451158+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gh1 has been classified as Green List (High Evidence).",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:07:41.134593+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GH1 as Green List (high evidence)",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:07:41.116297+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gh1 has been classified as Green List (High Evidence).",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:07:30.832472+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GH1.\nTag endocrine tag was added to gene: GH1.",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2023-03-11T17:07:18.091717+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GH1 was added\ngene: GH1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650\nReview for gene: GH1 was set to GREEN\nAdded comment: Well established gene-disease association. Congenital onset.\r\n\r\nTreatment: growth hormone.\r\n\r\nNon-genetic confirmatory test: growth hormone stimulation test \nSources: Expert list",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T17:49:41.687425+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFI1 as ready",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-03-10T17:49:41.677237+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfi1 has been classified as Green List (High Evidence).",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-03-10T17:49:34.031715+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFI1 as Green List (high evidence)",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-03-10T17:49:34.022292+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfi1 has been classified as Green List (High Evidence).",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-03-10T17:49:23.513396+11:00",
"panel_name": "Baby Screen+ newborn screening",
"panel_id": 3931,
"panel_version": "0.1959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFI1 was added\ngene: GFI1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GFI1 were set to 12778173; 20560965; 11810106; 22684987\nPhenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107\nReview for gene: GFI1 was set to GREEN\nAdded comment: At least three unrelated families reported, and supportive functional data.\r\n\r\nSevere congenital immunodeficiency.\r\n\r\nTreatment: granulocyte colony-stimulating factor (G-CSF), Bone marrow transplant\r\n\r\nNon-genetic confirmatory testing: FBE. \nSources: Expert list",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:31:30.544422+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-10T15:31:06.664172+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCP2 were changed from Neurodegeneration with brain iron accumulation; ataxia to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Neurodegeneration with brain iron accumulation; ataxia",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:30:49.839732+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCP2 were set to 26497993",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:30:32.033675+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCP2 as Amber List (moderate evidence)",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:30:32.024311+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:30:13.544667+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: None",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:27:49.094190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REPS1 as ready",
"entity_name": "REPS1",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:27:49.080169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reps1 has been classified as Red List (Low Evidence).",
"entity_name": "REPS1",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:27:36.472240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REPS1 was added\ngene: REPS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: REPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REPS1 were set to 29395073\nPhenotypes for gene: REPS1 were set to Neurodegeneration with brain iron accumulation 7 , MIM# 617916\nReview for gene: REPS1 was set to RED\nAdded comment: Two siblings reported with compound het missense variants in this gene and a neurodegenerative course in childhood. \nSources: Literature",
"entity_name": "REPS1",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:25:55.649765+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REPS1 as ready",
"entity_name": "REPS1",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:25:55.639064+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reps1 has been classified as Red List (Low Evidence).",
"entity_name": "REPS1",
"entity_type": "gene"
},
{
"created": "2023-03-10T15:25:07.389245+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REPS1 was added\ngene: REPS1 was added to Neuroferritinopathies. Sources: Literature\nMode of inheritance for gene: REPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REPS1 were set to 29395073\nPhenotypes for gene: REPS1 were set to Neurodegeneration with brain iron accumulation 7 , MIM#\t617916\nReview for gene: REPS1 was set to RED\nAdded comment: Two siblings reported with compound het missense variants in this gene and a neurodegenerative course in childhood. \nSources: Literature",
"entity_name": "REPS1",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:58:29.989244+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:58:29.978447+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Red List (Low Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:58:25.825233+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:57:49.907792+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:56:46.247786+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLA as Red List (low evidence)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:56:46.240084+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Red List (Low Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T14:56:18.460609+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:43:43.466910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCF2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MCF2L",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:43:21.941185+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCF2L as ready",
"entity_name": "MCF2L",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:43:21.933427+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcf2l has been classified as Red List (Low Evidence).",
"entity_name": "MCF2L",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:43:12.236136+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCF2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MCF2L",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:42:45.343440+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCF2L as Red List (low evidence)",
"entity_name": "MCF2L",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:42:45.292416+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcf2l has been classified as Red List (Low Evidence).",
"entity_name": "MCF2L",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:40:07.373631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTH1 were changed from Hemochromatosis, type 5, MIM# 615517 to Hemochromatosis, type 5, MIM# 615517; Neuroferritinopathy (MONDO:0011638)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:39:43.919678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTH1 were set to 11389486",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:39:21.561744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTH1 as Amber List (moderate evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:39:21.554766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:38:48.548639+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTH1 as ready",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:38:48.538151+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:38:42.849249+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTH1 as Amber List (moderate evidence)",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:38:42.841889+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fth1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:36:32.252436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLN1 were changed from idiopathic spontaneous coronary artery dissection MONDO:0007385 to idiopathic spontaneous coronary artery dissection MONDO:0007385; thrombocytopenia, MONDO:0002049, TLN1-related",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:36:00.937402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLN1 were set to 30888838",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:34:57.411931+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLN1 as ready",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:34:57.404163+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Red List (Low Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:33:39.581684+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLN1 were changed from thrombocytopenia, MONDO:0002049 to thrombocytopenia, MONDO:0002049, TLN1-related",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:33:09.277367+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLN1 as Red List (low evidence)",
"entity_name": "TLN1",
"entity_type": "gene"
},
{
"created": "2023-03-10T10:33:09.265777+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tln1 has been classified as Red List (Low Evidence).",
"entity_name": "TLN1",
"entity_type": "gene"
}
]
}