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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=418",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=416",
"results": [
{
"created": "2024-07-26T18:30:15.088658+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFEMP2 as ready",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:30:15.060084+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:30:07.320964+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFEMP2 as Green List (high evidence)",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:30:07.308213+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efemp2 has been classified as Green List (High Evidence).",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:29:33.750693+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFEMP2 was added\ngene: EFEMP2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM# 614437\nReview for gene: EFEMP2 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:27:45.453887+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOCK8 as ready",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:27:45.438501+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock8 has been classified as Green List (High Evidence).",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:27:41.315840+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DOCK8 as Green List (high evidence)",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:27:41.304173+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dock8 has been classified as Green List (High Evidence).",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:27:11.568909+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DOCK8 was added\ngene: DOCK8 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Childhood bronchiectasis\nReview for gene: DOCK8 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:19:57.970627+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:19:57.958436+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:19:53.846026+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFTR as Green List (high evidence)",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:19:53.834161+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:19:24.391960+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, MIM# 219700\nReview for gene: CFTR was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:18:17.371086+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCBE1 as ready",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:18:17.352161+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:18:12.560630+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCBE1 as Green List (high evidence)",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:18:12.545965+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccbe1 has been classified as Green List (High Evidence).",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-07-26T18:17:28.440002+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list\nMode of inheritance for gene: CCBE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510\nReview for gene: CCBE1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:12:29.448912+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBK1 were changed from Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation to Autoinflammation with arthritis and vasculitis, MIM# 620880",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:11:46.450961+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with arthritis and vasculitis, MIM# 620880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:10:22.806016+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 to Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:10:01.717144+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:09:43.888686+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related to Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:09:03.918936+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:08:42.303085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 to Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-07-26T16:07:52.000227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-07-26T14:03:54.053739+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: NBEAL2 was added\ngene: NBEAL2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBEAL2 were set to PMID: 37349339\nPhenotypes for gene: NBEAL2 were set to Immune dysregulation\nReview for gene: NBEAL2 was set to GREEN\nAdded comment: Patients with NBEAL2 deficiency present with ALPS-like disease with autoimmune manifestations including Evans syndrome, chill blain lupus, autoimmune thyroiditis, and/or antiplatelet autoantibodies. Functional data demonstrating that NBEAL2 affects CTLA4 expression regulation. \nSources: Literature",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2024-07-26T13:51:22.736857+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.117",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: NFATC2 was added\ngene: NFATC2 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to PMID: 38427060\nPhenotypes for gene: NFATC2 were set to EBV associated lymphoproliferative disease\nReview for gene: NFATC2 was set to RED\nAdded comment: 12yo girl born to consanguineous parents with EBV associated lymphoproliferation. Initially presented with recurrent chest infections, lung deterioration, chronic wet cough and failure to thrive at the age of 9 and severe hypogammaglobulinaemia. Her elder brother died of lymphoma when he was 5 years old, otherwise family history was unremarkable. \nSources: Literature",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-07-26T13:43:22.139718+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: SH2B3 was added\ngene: SH2B3 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: SH2B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SH2B3 were set to PMID: 37206266\nPhenotypes for gene: SH2B3 were set to Immune\nReview for gene: SH2B3 was set to GREEN\nAdded comment: 2x unrelated patients with haematopoietic manifestations with predominantly myeloproliferative features. Both patients developed clinically significant extra‐haematopoietic multi‐organ autoimmune manifestations throughout life including autoimmune hypothyroidism, autoimmune hepatitis, alopecia areata and autoimmune diabetes mellitus. \nSources: Literature",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2024-07-26T13:35:52.651580+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: CD274 was added\ngene: CD274 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD274 were set to PMID: 38634869\nPhenotypes for gene: CD274 were set to Immune dysregulation\nReview for gene: CD274 was set to AMBER\nAdded comment: Two siblings, born to second-degree consanguineous parents of Moroccan descent,\r\nboth developed neonatal-onset T1D (diagnosed at the ages of 1 day and 7 wk, respectively). One sibling was subsequently diagnosed with asthma at the age of 5 mo, auto-immune hypothyroidism at the age of 3 years, and growth hormone (GH) deficiency at the age of 10 years. He also had mild intellectual disability with delayed language development. By\r\ncontrast, his sister had no clinical manifestations other than T1D. \nSources: Literature",
"entity_name": "CD274",
"entity_type": "gene"
},
{
"created": "2024-07-26T13:23:34.212107+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.66",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: ITPR3 was added\ngene: ITPR3 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: ITPR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITPR3 were set to PMID: 36302985\nPhenotypes for gene: ITPR3 were set to Combined Immune deficiency, immune dysregulation\nReview for gene: ITPR3 was set to GREEN\nAdded comment: Three different variants in two unrelated compound heterozygous patients demonstrated impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and\r\nproliferation. P1 was a 12-year-old male patient who presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. P2 was a 36-year-old male\r\nwho presented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous \r\n immunoglobulin. The patient did not show signs of neuromuscular disorder.\r\nAuthors suggest a partially recessive mode of inheritance with complete defects in these causing embryonic lethality. \nSources: Literature",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2024-07-26T12:41:31.580213+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.186",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: UNC93B1 was added\ngene: UNC93B1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: UNC93B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: UNC93B1 were set to PMID: 38869500\nPhenotypes for gene: UNC93B1 were set to SLE, chilblain lupus\nMode of pathogenicity for gene: UNC93B1 was set to Other\nReview for gene: UNC93B1 was set to GREEN\nAdded comment: Rare missense substitutions in UNC93B1 in probands from five unrelated kindreds presenting with early onset SLE (two probands) or CBL (three probands). Clinical, genetic, and functional in vitro and ex vivo data demonstrating changes in TLR7/8 signalling and trafficking. \nSources: Literature",
"entity_name": "UNC93B1",
"entity_type": "gene"
},
{
"created": "2024-07-26T12:27:26.115776+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.364",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TRPM3 was added\ngene: TRPM3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM3 were set to PMID: 37684057\nPhenotypes for gene: TRPM3 were set to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224)\nReview for gene: TRPM3 was set to RED\nAdded comment: Single case report of child with a likely pathogenic de novo missense variant in the ion transport domain of TRPM3 and neurodevelopmental delay with CP (PMID: 37684057). Cerebral palsy has not previously been reported. \nSources: Literature",
"entity_name": "TRPM3",
"entity_type": "gene"
},
{
"created": "2024-07-26T09:53:16.670464+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17345604, 16909394, 24807808, 16682970, 16682973, 27434533, 20690115, 32208788; Phenotypes: CEP290-related ciliopathy MONDO:0100451, Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-07-26T09:45:13.622696+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992493, 21358631; Phenotypes: Meier-Gorlin syndrome 4 MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-07-26T09:39:07.237281+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28657829; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2024-07-26T09:08:23.139726+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36729250, 23561803, 23374270; Phenotypes: Immunodeficiency 11A MIM#615206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2024-07-26T08:37:06.148223+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31988067; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2024-07-25T15:47:01.228124+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30137827; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:49:58.575240+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ACY1.",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:48:50.663513+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD81 as ready",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:48:50.648641+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd81 has been classified as Red List (Low Evidence).",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:48:45.632816+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD81 were set to 20237408",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:39:02.380144+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIFM1 as ready",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:39:02.362517+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aifm1 has been classified as Green List (High Evidence).",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:38:50.640510+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIFM1 were changed from Cowchock syndrome, 310490 (3) to Combined oxidative phosphorylation deficiency 6, MIM#300816",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:33:57.943003+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AK2 as ready",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:33:57.930553+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ak2 has been classified as Green List (High Evidence).",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:33:52.576489+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AK2 were changed from Reticular dysgenesis, 267500 (3) to Reticular dysgenesis MIM# 267500",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:33:41.179972+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AK2 were set to ",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:32:32.101253+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:32:32.089235+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:32:26.979611+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, 270200 (3) to Sjogren-Larsson syndrome (MIM#270200)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:32:09.521234+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:30:46.206721+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:30:46.188055+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:30:34.677020+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH7A1 were changed from Epilepsy, pyridoxine-dependent, 266100 (3) to Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:30:20.788191+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH7A1 were set to ",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:29:41.128787+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG12 as ready",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:29:41.115175+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg12 has been classified as Green List (High Evidence).",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:29:36.997762+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig, 607143 (3) to Congenital disorder of glycosylation, type Ig MIM# 607143",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:29:22.671157+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG12 were set to ",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:28:15.062264+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG3 as ready",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:28:15.029427+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg3 has been classified as Green List (High Evidence).",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:28:08.762605+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG3 were set to ",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:27:31.375656+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:27:31.353262+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:27:28.181414+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from Alstrom syndrome, 203800 (3) to Alstrom syndrome, MIM# 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:26:45.871013+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALOX12B as ready",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:26:45.854485+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alox12b has been classified as Green List (High Evidence).",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:26:38.503356+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive 2, 242100 (3) to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:26:21.886481+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALOX12B were set to ",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:25:34.185234+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:22:35.257209+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALOXE3 as ready",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:22:35.239258+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aloxe3 has been classified as Green List (High Evidence).",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:22:29.470000+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, 606545 (3) to Ichthyosis, congenital, autosomal recessive 3 (MIM#606545)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:22:10.856117+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:20:55.938435+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR1 as ready",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:20:55.919117+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr1 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:20:46.813282+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANTXR1 were changed from GAPO syndrome, 230740 (3) to GAPO syndrome (MIM#230740)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:19:59.809607+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANTXR2 as ready",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:19:59.790680+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: antxr2 has been classified as Green List (High Evidence).",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:19:55.292202+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome, 228600 (3) to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:19:27.897292+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANTXR2 were set to ",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:18:42.240482+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:18:42.220968+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:18:29.785980+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:17:33.205085+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AQP2 as ready",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:17:33.190188+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aqp2 has been classified as Green List (High Evidence).",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:17:29.846113+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 (3) to Diabetes insipidus, nephrogenic, type 2 MIM# 125800",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:17:16.977799+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AQP2 were set to ",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:16:31.583127+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:16:31.570033+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:16:27.872709+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from Argininemia, 207800 (3) to Argininemia MIM# 207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:16:16.029149+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARG1 were set to ",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:14:41.020122+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40 as ready",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:14:41.005374+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40 has been classified as Green List (High Evidence).",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2024-07-25T14:13:34.260098+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ4 as ready",
"entity_name": "COQ4",
"entity_type": "gene"
}
]
}