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{
"count": 220959,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=710",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=708",
"results": [
{
"created": "2022-10-21T10:56:02.518876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD79B.",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:54:33.036568+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD79B as ready",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:54:33.004086+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd79b has been classified as Green List (High Evidence).",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:54:24.911017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD79B.",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:54:00.940225+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:10:17.410260+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAS2 as ready",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:10:17.393993+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras2 has been classified as Green List (High Evidence).",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:10:12.063133+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAS2 as Green List (high evidence)",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:10:12.051712+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras2 has been classified as Green List (High Evidence).",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2022-10-21T10:09:44.410225+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAS2 was added\ngene: RRAS2 was added to Hydrops fetalis. Sources: Expert Review\nMode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAS2 were set to 33686258; 31130282\nPhenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624\nReview for gene: RRAS2 was set to GREEN\nAdded comment: Established Rasopathy gene; identified in hydrops cohort PMID 33686258. \nSources: Expert Review",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2022-10-21T09:47:48.689792+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.36",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2022-10-21T08:16:06.145118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.\r\n\r\nCaution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.",
"entity_name": "WNK4",
"entity_type": "gene"
},
{
"created": "2022-10-21T08:15:41.218084+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.\r\n\r\nCaution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.",
"entity_name": "WNK4",
"entity_type": "gene"
},
{
"created": "2022-10-20T17:07:49.554315+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.146",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR24 were set to PMID: 21671375\nPhenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398\nReview for gene: DHCR24 was set to GREEN\nAdded comment: Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described. \nSources: Literature, Expert list",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:52:10.773954+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD79A.",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:51:48.533832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD79A.",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:51:26.981067+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD79A as ready",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:51:26.972622+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd79a has been classified as Green List (High Evidence).",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:51:16.657150+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 unrelated families.\r\n\r\nPresents in infancy.\r\n\r\nTreatment: immunoglobulin replacement.; to: At least 5 unrelated families.\r\n\r\nPresents in infancy with severe recurrent infections.\r\n\r\nTreatment: immunoglobulin replacement.",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:50:59.305903+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD79A.",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:50:46.457802+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD79A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:47:54.146089+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD40LG.",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:47:28.859789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD40LG.",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:47:01.582236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD40LG as ready",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:47:01.545151+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd40lg has been classified as Green List (High Evidence).",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:46:57.829918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:46:44.144293+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD40LG.",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:46:34.061518+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:42:32.051113+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD3E.",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:42:09.935913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD3E.",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:41:50.443153+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3E as ready",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:41:50.434751+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3e has been classified as Green List (High Evidence).",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:41:40.184968+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3E",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:39:57.883775+11:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD3D.",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:39:33.077777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD3D.",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:39:20.611428+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD3D as ready",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:39:20.600896+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd3d has been classified as Green List (High Evidence).",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:38:51.792322+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CD3D.",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:38:41.835000+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:35:03.201415+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSK as ready",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:35:03.182284+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsk has been classified as Green List (High Evidence).",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:34:58.355955+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTSK as Green List (high evidence)",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:34:58.345875+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsk has been classified as Green List (High Evidence).",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:34:15.207373+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CUL7 as ready",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:34:15.197399+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul7 has been classified as Green List (High Evidence).",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:34:09.501021+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CUL7 as Green List (high evidence)",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:34:09.492239+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cul7 has been classified as Green List (High Evidence).",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:33:23.594046+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP26B1 as ready",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:33:23.585008+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp26b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:33:10.225692+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYP26B1 as Green List (high evidence)",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:33:10.216262+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp26b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP26B1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:32:12.889284+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXW11 as ready",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:32:12.879598+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw11 has been classified as Red List (Low Evidence).",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:32:10.523625+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:31:37.520114+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXW11 as Red List (low evidence)",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:31:37.511575+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw11 has been classified as Red List (Low Evidence).",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:30:53.882126+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXW11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disorder MONDO:0019751, FBXW11-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXW11",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:28:31.022272+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VIPAS39 as ready",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:28:31.011983+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vipas39 has been classified as Red List (Low Evidence).",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:28:27.323934+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction and cholestasis to Arthrogryposis, renal dysfunction, and cholestasis MIM#613404",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:28:14.225488+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VIPAS39 were set to ",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:28:02.038275+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VIPAS39 as Red List (low evidence)",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:28:02.019143+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vipas39 has been classified as Red List (Low Evidence).",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:27:39.136090+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:25:50.474530+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VLDLR as ready",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:25:50.456028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Red List (Low Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:25:46.860000+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:25:32.104087+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VLDLR as Red List (low evidence)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:25:32.084923+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Red List (Low Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:24:55.067191+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13A as ready",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:24:55.048197+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13a has been classified as Red List (Low Evidence).",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:24:49.612320+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:24:37.129817+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS13A as Red List (low evidence)",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:24:37.121426+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13a has been classified as Red List (Low Evidence).",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:23:36.705010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:23:36.693065+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Red List (Low Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:23:33.161918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13B were changed from Cohen syndrome to Cohen syndrome MIM#216550",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:23:17.262091+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS13B as Red List (low evidence)",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:23:17.253833+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Red List (Low Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:22:04.677705+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSA were set to ",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:21:32.520159+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:19:34.275092+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCK as ready",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:19:34.265357+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gck has been classified as Green List (High Evidence).",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:19:07.623120+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:18:45.725227+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:14:47.206119+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC as ready",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:14:47.192158+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc has been classified as Green List (High Evidence).",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:14:41.548616+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PC were set to ",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:13:59.883490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: G6PC.",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:13:39.324419+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: G6PC.",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:13:11.192731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: G6PC.",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:12:36.666287+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:10:13.181614+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:10:13.173009+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:09:43.337283+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from Fucosidosis to Fucosidosis, MIM# 230000",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:09:31.595033+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FUCA1 were set to ",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:09:19.415365+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: FUCA1.\nTag treatable tag was added to gene: FUCA1.",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:09:03.460238+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-20T13:00:03.140363+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35761207; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-10-20T12:55:14.416692+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.588",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
}
]
}