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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=700",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=698",
"results": [
{
"created": "2022-11-07T17:13:22.873570+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301419, PMID: 25614784, PMID: 20464573, PMID: 16491382; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-11-07T16:55:42.249350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301373, PMID: 3032328, PMID: 29972753, PMID: 29972757; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-11-07T10:00:58.292630+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 1, (Permanent Neonatal Diabetes Mellitus) 260370; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-11-07T09:46:57.873968+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-11-07T09:41:13.287572+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-11-07T09:37:50.339982+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2022-11-06T16:23:23.189592+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2022-11-06T16:23:23.165786+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2022-11-06T16:23:19.012222+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII to Osteogenesis imperfecta, type VII, MIM# MIM#610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2022-11-06T16:23:01.263192+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM# MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:49:50.953561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:49:36.476293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:49:18.470743+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:49:08.649313+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:48:54.002340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:48:24.801155+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:48:02.030100+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:47:29.272606+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:47:06.551897+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:46:33.933757+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:46:15.980936+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-06T10:45:52.002251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113",
"entity_name": "FRA10AC1",
"entity_type": "gene"
},
{
"created": "2022-11-05T14:07:02.698784+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32487807 PMID: 32909287 PMID: 20301368; Phenotypes: Craniosynostosis/Saethre-Chotzen Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2022-11-05T14:00:15.780576+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16135556,19304794,17921179, 27551684, 12872260, 31823625; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 MIM# 271245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-11-05T08:28:52.576142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2022-11-05T08:28:21.021018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR3 were set to 32949214",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2022-11-05T08:27:51.919315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITPR3 as Green List (high evidence)",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2022-11-05T08:27:51.910663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr3 has been classified as Green List (High Evidence).",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2022-11-05T08:27:31.456015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITPR3: Added comment: Additional family with 3 individuals in 2 generations reported in PMID 24627108.; Changed rating: GREEN; Changed publications: 32949214, 24627108; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111",
"entity_name": "ITPR3",
"entity_type": "gene"
},
{
"created": "2022-11-04T20:56:25.011433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THAP1 were set to 21793105; 22377579",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2022-11-04T20:56:03.369516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2022-11-04T17:36:11.583550+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: GSC was added\ngene: GSC was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSC were set to PMID: 24290375\nPhenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471\nReview for gene: GSC was set to GREEN\nAdded comment: Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition. \nSources: Literature",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-11-04T17:17:14.009705+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: GPX4 was added\ngene: GPX4 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPX4 were set to PMID: 24706940\nPhenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220\nReview for gene: GPX4 was set to GREEN\nAdded comment: small thorax, rhizomelic shortening, perinatal lethality described. \nSources: Literature",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-11-04T17:11:15.910743+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.173",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: GPC6 was added\ngene: GPC6 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPC6 were set to Omodysplasia 1 - MIM#258315\nReview for gene: GPC6 was set to GREEN\nAdded comment: Severe congenital micromelia \nSources: Literature",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-11-04T14:21:54.648960+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301358, PMID: 33825174, PMID: 32980811, PMID: 26264513, PMID: 19371766; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2022-11-04T13:58:34.489393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17980020, PMID: 33599182; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-04T13:48:41.937366+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5017",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDR5 as ready",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T13:48:41.930372+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5017",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr5 has been classified as Green List (High Evidence).",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T13:33:47.191139+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32646888, PMID: 26119737, PMID: 26046368, PMID: 26085575; Phenotypes: Fanconi anemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-11-04T12:50:54.339441+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5017",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR5 as Green List (high evidence)",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T12:50:54.328225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5017",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr5 has been classified as Green List (High Evidence).",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T12:37:16.040539+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5016",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR5 was added\ngene: WDR5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157\nPhenotypes for gene: WDR5 were set to Neurodevelopmental disorder MONDO:0700092, WDR5-related\nMode of pathogenicity for gene: WDR5 was set to Other\nReview for gene: WDR5 was set to GREEN\nAdded comment: Six different missense variants were identified (de novo) in 11 affected individuals with neurodevelopmental disorders, with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. 9/11 probands have ID. In vivo and in vitro functional suggest that loss-of-function is not the mechanism of disease. The mechanism of disease is yet to be established. \nSources: Literature",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T11:20:36.683485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDR5 as ready",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T11:20:36.675377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr5 has been classified as Green List (High Evidence).",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T10:56:43.735991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR5 as Green List (high evidence)",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T10:56:43.728762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr5 has been classified as Green List (High Evidence).",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T10:42:38.929369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.452",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR5 was added\ngene: WDR5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157\nPhenotypes for gene: WDR5 were set to Neurodevelopmental disorder MONDO:0700092, WDR5-related\nMode of pathogenicity for gene: WDR5 was set to Other\nReview for gene: WDR5 was set to GREEN\nAdded comment: Six different missense variants were identified (de novo) in 11 affected individuals with neurodevelopmental disorders, with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. In vivo and in vitro functional suggest that loss-of-function is not the mechanism of disease. The mechanism of disease is yet to be established. \nSources: Literature",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2022-11-04T09:20:38.096927+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.843",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-11-04T09:13:29.558598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.451",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TOMM7: Changed publications: 36299998",
"entity_name": "TOMM7",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:52:45.542226+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:52:27.601833+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia-88 (SPG88), MIM#620106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:52:03.229735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:51:36.867090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia-88 (SPG88), MIM#620106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KPNA3",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:50:27.215462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JARID2 were changed from Intellectual disability to Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:49:50.251489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JARID2: Changed phenotypes: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:49:29.243640+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JARID2 were changed from Intellectual disability to Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2022-11-04T06:49:05.498423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JARID2: Changed phenotypes: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098",
"entity_name": "JARID2",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:33:11.692403+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMSAP1 as ready",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:33:11.680496+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:33:07.332306+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMSAP1 as Green List (high evidence)",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:33:07.323841+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camsap1 has been classified as Green List (High Evidence).",
"entity_name": "CAMSAP1",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:32:16.282141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PI4K2A were changed from Cutis laxa, intellectual disability, movement disorder to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Cutis laxa, intellectual disability, movement disorder",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:31:50.621035+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PI4K2A were set to 32418222",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:29:44.875170+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJB4 as ready",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:29:44.864640+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb4 has been classified as Red List (Low Evidence).",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:29:34.258838+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJB4 as Red List (low evidence)",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:29:34.250555+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb4 has been classified as Red List (Low Evidence).",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:28:53.533804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJB4 as ready",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:28:53.525395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb4 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:28:42.878210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJB4 as Green List (high evidence)",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T21:28:42.870143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb4 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:56:15.666608+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF2RA as ready",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:56:15.654273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Red List (Low Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:56:08.705666+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSF2RA as Red List (low evidence)",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:56:08.697779+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf2ra has been classified as Red List (Low Evidence).",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:55:57.380522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF2RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:53:01.269825+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF3R as ready",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:53:01.252647+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf3r has been classified as Green List (High Evidence).",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:50:44.091635+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive\t, MIM#617014; Neutrophilia, hereditary , MIM#\t162830 to Neutropenia, severe congenital, 7, autosomal recessive\t, MIM#617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:50:17.143597+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF3R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:49:57.736439+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CSF3R.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:49:49.525756+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:47:56.414600+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR1 as ready",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:47:56.405873+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Red List (Low Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:47:52.925492+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome to Johanson-Blizzard syndrome MIM#243800",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:47:40.588205+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR1 were set to ",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:47:26.409092+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR1 as Red List (low evidence)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:47:26.399977+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Red List (Low Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:46:26.406333+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGT1A1 as ready",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:46:26.397123+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugt1a1 has been classified as Green List (High Evidence).",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:46:22.679952+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome to Crigler-Najjar syndrome, type I, MIM#\t218800",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:46:04.024490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UGT1A1 were set to ",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2022-11-03T18:45:48.028136+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: UGT1A1.",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:18:13.583242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.446",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "gene: DNAJB4 was added\ngene: DNAJB4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJB4 were set to PMID: 36264506\nPhenotypes for gene: DNAJB4 were set to Myopathy, MONDO:0005336, DNAJB4-related\nReview for gene: DNAJB4 was set to GREEN\nAdded comment: 4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure. One had HCM.\r\n\r\nFunctional studies including mouse model. \nSources: Literature",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:15:39.883454+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.167",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "gene: DNAJB4 was added\ngene: DNAJB4 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJB4 were set to PMID: 36264506\nPhenotypes for gene: DNAJB4 were set to Myopathy, MONDO:0005336, DNAJB4-related\nReview for gene: DNAJB4 was set to RED\nAdded comment: 4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure. \r\n\r\nOnly one had HCM.\r\n\r\nFunctional studies including mouse model. \nSources: Literature",
"entity_name": "DNAJB4",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:01:57.563132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP11A were set to PMID: 34403372; 35278131",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-11-03T15:01:29.057163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP11A: Changed phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851, Deafness, autosomal dominant 84 (MIM#619810)",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:58:42.132259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.445",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:58:02.356206+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5014",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: PI4K2A as ready",
"entity_name": "PI4K2A",
"entity_type": "gene"
},
{
"created": "2022-11-03T14:58:02.328112+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5014",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: pi4k2a has been classified as Green List (High Evidence).",
"entity_name": "PI4K2A",
"entity_type": "gene"
}
]
}