{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=700","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}