{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=137","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=135","results":[{"created":"2025-11-07T13:30:53.810118+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene RRP12 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-07T13:30:53.546292+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RRP12 was added\ngene: RRP12 was added to Brain Calcification. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP12 were set to PMID: 41059649\nPhenotypes for gene: RRP12 were set to Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications\nPenetrance for gene: RRP12 were set to unknown","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:29:48.046275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRP12 as ready","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:29:48.033908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrp12 has been classified as Amber List (Moderate Evidence).","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:29:39.252286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3523","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRP12 were changed from Brain calcifications to Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:28:56.864946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3522","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RRP12 was changed from Other to None","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:28:46.362995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3521","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRP12 as Amber List (moderate evidence)","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T13:28:46.350041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3521","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrp12 has been classified as Amber List (Moderate Evidence).","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T11:42:33.818900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3520","user_name":"Catherine Dalzell","item_type":"entity","text":"gene: RRP12 was added\ngene: RRP12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RRP12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRP12 were set to PMID: 41059649\nPhenotypes for gene: RRP12 were set to Brain calcifications\nPenetrance for gene: RRP12 were set to unknown\nMode of pathogenicity for gene: RRP12 was set to Other\nReview for gene: RRP12 was set to AMBER\nAdded comment: Variants: 5 individuals from 3 unrelated families with homozygous RRP12 variants (3 different variants, 2 consanguineous families with same variant, 2 siblings with same variant).\r\n\r\nPhenotype: all individuals had brain calcifications (varying distribution, severity and age of onset). The patients from the two consanguineous families both had infantile-onset generalised dystonia, spasticity and severe speech impairment with widespread brain calcifications. One also had microcephaly, seizures and a cataract whilst the other had mild thrombocytopenia. The two siblings had psychiatric symptoms (one bipolar disease and one anxiety) with marked, bilateral symmetric calcifications. One also had cerebellar ataxia, choreic movements, cognitive impairment and subtle Parkinsonism whilst the other had chronic tinnitus. The final individual had dizziness and only faint bilateral lenticular calcifications.\r\n\r\nFunctional data: a statistically significant reduction in RRP12 protein levels in probands’ fibroblasts compared to controls was demonstrated. rrp12 knockdown in zebrafish embryos demonstrated reduced survival (50% survival at 2 days and maximum survival of 6 days compared to 100% survival at 6 days in controls). Phenotype abnormalities (delayed development and crimping) were also seen in the rrp12 knockdown embryos. Functional studies support a possible LoF mechanism. \nSources: Literature","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-11-07T09:54:23.694845+11:00","panel_name":"Vascular Malformations SuperPanel","panel_id":3731,"panel_version":"1.69","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Vascular Malformations_Somatic; Mosaic skin disorders; Vascular Malformations_Germline; Cerebral vascular malformations; Lymphoedema_nonsyndromic; Lymphoedema_syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-05T12:22:42.462512+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:22:12.539022+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF2: Changed phenotypes: Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:21:52.439795+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:21:28.322851+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.357","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF2: Changed phenotypes: Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:21:10.722060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3520","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:20:54.207811+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3519","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAF2: Changed phenotypes: Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:20:32.869961+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF2 as ready","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:20:32.859867+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf2 has been classified as Green List (High Evidence).","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:20:30.222949+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from Intellectual disability, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:19:18.808872+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.567","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF2 were changed from intellectual disability; epilepsy; thin corpus callosum to Intellectual disability, autosomal recessive 40, MIM# 615599","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:18:28.626407+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF2 as Green List (high evidence)","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T12:18:28.615189+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf2 has been classified as Green List (High Evidence).","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-05T08:26:21.851692+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"1.7","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: Kidney malformations and chronic kidney disease are well established in Alagille syndrome.\r\n\r\n3 large families (out of 203) with ADTKD and a (likely) pathogenic variant in JAG1 gene segregating with disease. JAG1 expression studies as well ER stress analysis suggested that the tubulointerstitial kidney disease was not due to cell toxicity of an abnormal protein, but rather to haploinsufficiency and loss of function. \r\n\r\nNone of the 23 adult patients with isolated kidney failure (and tubulointerstitial nephritis in individuals with available kidney biopsy) had syndromic manifestations of Alagille syndrome (i.e. liver, bile duct, heart, eye, or skeletal). Therefore, JAG1 variants should be considered in isolated tubulointerstitial kidney disease. \nSources: Literature; to: Kidney malformations and chronic kidney disease are well established in Alagille syndrome.\r\n\r\n3 large families (out of 203) with ADTKD and a (likely) pathogenic variant in JAG1 gene segregating with disease (p.Trp288*, p.Arg201Cys, and c.2372+3_2372+6del). None of the 23 adult patients in the 3 families had syndromic manifestations of Alagille syndrome (i.e. liver, bile duct, heart, eye, or skeletal), but only had isolated kidney failure (and tubulointerstitial nephritis in individuals with available kidney biopsy). JAG1 expression studies as well ER stress analysis suggested that the tubulointerstitial kidney disease was not due to cell toxicity of an abnormal protein, but rather to haploinsufficiency and loss of function. Therefore, JAG1 variants should be considered in isolated tubulointerstitial kidney disease. \r\nSources: Literature","entity_name":"JAG1","entity_type":"gene"},{"created":"2025-11-05T00:27:40.117720+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.565","user_name":"Boris Keren","item_type":"entity","text":"gene: TAF2 was added\ngene: TAF2 was added to Callosome. Sources: Literature\nMode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF2 were set to PMID: 34474177\nPhenotypes for gene: TAF2 were set to intellectual disability; epilepsy; thin corpus callosum\nPenetrance for gene: TAF2 were set to Complete\nMode of pathogenicity for gene: TAF2 was set to Other\nReview for gene: TAF2 was set to GREEN\ngene: TAF2 was marked as current diagnostic\nAdded comment: Most patients have severe intellectual disability, microcephaly, thin corpus callosum. 9 reported patients from 4 families. \r\nOnly missenses are reported for now but the mechanism is currently unknown \nSources: Literature","entity_name":"TAF2","entity_type":"gene"},{"created":"2025-11-03T21:16:22.817395+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT6B as ready","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:16:22.810138+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat6b has been classified as Green List (High Evidence).","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:16:20.040542+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KAT6B were changed from  to KAT6B-related multiple congenital anomalies syndrome MONDO:0036042","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:15:49.796070+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.441","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KAT6B were set to ","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:15:23.240263+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KAT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:14:53.869457+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Contractures are a feature of the syndrome.; to: Contractures are a feature of the syndrome, specifically the GPS end of the spectrum.","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:14:38.896917+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KAT6B: Changed publications: 22715153","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:13:37.538602+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: KAT6B-related multiple congenital anomalies syndrome MONDO:0036042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2025-11-03T21:12:50.289270+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL7 as ready","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:12:50.281515+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl7 has been classified as Green List (High Evidence).","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:12:31.379249+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL7 were changed from  to PERCHING syndrome, MIM# 617055","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:12:01.940926+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL7 were set to ","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:11:32.967211+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.437","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:11:00.473450+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KLHL7: Changed phenotypes: PERCHING syndrome, MIM# 617055","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:10:45.599053+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KLHL7: Changed publications: 27392078, 30142437, 29074562","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:10:12.914597+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL7","entity_type":"gene"},{"created":"2025-11-03T21:08:54.077155+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC8 as ready","entity_name":"ERCC8","entity_type":"gene"},{"created":"2025-11-03T21:08:54.069906+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc8 has been classified as Green List (High Evidence).","entity_name":"ERCC8","entity_type":"gene"},{"created":"2025-11-03T21:08:49.616262+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.436","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC8 were changed from  to Cockayne syndrome, type A, MIM# 216400","entity_name":"ERCC8","entity_type":"gene"},{"created":"2025-11-03T21:07:57.889194+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.435","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2025-11-03T21:07:27.905690+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2025-11-03T21:06:12.000835+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC6 as ready","entity_name":"ERCC6","entity_type":"gene"},{"created":"2025-11-03T21:06:11.993457+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6 has been classified as Green List (High Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2025-11-03T21:06:08.246769+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC6 were changed from  to Cerebrooculofacioskeletal syndrome 1, MIM# 214150","entity_name":"ERCC6","entity_type":"gene"},{"created":"2025-11-03T21:05:45.898271+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.433","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6","entity_type":"gene"},{"created":"2025-11-03T21:05:22.029937+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6","entity_type":"gene"},{"created":"2025-11-03T21:02:48.356904+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL1 as ready","entity_name":"ASXL1","entity_type":"gene"},{"created":"2025-11-03T21:02:48.349413+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl1 has been classified as Green List (High Evidence).","entity_name":"ASXL1","entity_type":"gene"},{"created":"2025-11-03T21:02:40.477202+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL1 were changed from  to Bohring-Opitz syndrome , MIM#605039","entity_name":"ASXL1","entity_type":"gene"},{"created":"2025-11-03T21:00:54.598176+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ASXL1","entity_type":"gene"},{"created":"2025-11-03T21:00:24.326017+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Arthrogryposis is key feature.; to: Well established gene-disease association. Contractures are a key feature.","entity_name":"ASXL1","entity_type":"gene"},{"created":"2025-11-03T20:54:22.211792+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL1","entity_type":"gene"},{"created":"2025-11-03T20:53:38.262156+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA1 as ready","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T20:53:38.254508+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta1 has been classified as Green List (High Evidence).","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T20:53:35.940670+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA1 were changed from  to Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T20:53:08.080052+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTA1 were set to ","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T20:52:46.026342+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T20:52:00.942368+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.427","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTA1: Changed publications: 38666792","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T20:51:17.869515+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.427","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA1","entity_type":"gene"},{"created":"2025-11-03T15:31:09.308271+11:00","panel_name":"Homologous_recombination_deficiency_WTS_UMCCR","panel_id":242,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"panel","text":"Panel status changed from retired to public","entity_name":null,"entity_type":null},{"created":"2025-11-03T15:30:48.181118+11:00","panel_name":"Immune_markers_WTS_UMCCR","panel_id":243,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"panel","text":"Panel status changed from retired to public","entity_name":null,"entity_type":null},{"created":"2025-11-03T10:52:19.679755+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.239","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OSBPL2 were set to 25077649; 25759012; 31451425; 30894143","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2025-11-03T10:51:47.606328+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.238","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least three families reported, variants segregated with disease over many generations/family members; animal model.; to: At least three families reported for mono-allelic association, variants segregated with disease over many generations/family members; animal model.","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2025-11-03T10:51:34.700044+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.238","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OSBPL2: Added comment: PMID 38701954 proposes bi-allelic association with disease but single family only with two affected siblings. One variant is splice site and the other 3'UTR. RED for bi-allelic disease.; Changed publications: 25077649, 25759012, 31451425, 30894143, 38701954; Changed phenotypes: Deafness, autosomal dominant 67, MIM# 616340, Dyschromatosis, ichthyosis, deafness, and atopic disease, MIM# 621400","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2025-11-03T10:50:29.499320+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3519","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OSBPL2 were set to 25077649; 25759012; 31451425; 30894143","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2025-11-03T10:50:08.347023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3518","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OSBPL2: Rating: RED; Mode of pathogenicity: None; Publications: 38701954; Phenotypes: Dyschromatosis, ichthyosis, deafness, and atopic disease, MIM# 621400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2025-11-03T10:29:45.305634+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSA were changed from Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL) to Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394","entity_name":"CTSA","entity_type":"gene"},{"created":"2025-11-03T10:29:32.756260+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTSA: Changed phenotypes: Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394","entity_name":"CTSA","entity_type":"gene"},{"created":"2025-11-03T10:28:49.158364+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3518","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSA were changed from Galactosialidosis, MIM# 256540; Cathepsin A-related arteriopathy with strokes and leukoencephalopathy to Galactosialidosis, MIM# 256540; Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394","entity_name":"CTSA","entity_type":"gene"},{"created":"2025-11-03T10:28:28.219177+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3517","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTSA: Changed phenotypes: Galactosialidosis, MIM# 256540, Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394","entity_name":"CTSA","entity_type":"gene"},{"created":"2025-11-03T09:29:56.545692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3517","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPO were changed from erythrocytosis, familial, 5 MONDO:0033483 to Erythrocytosis, familial, 5, MIM# 617907; Diamond-Blackfan anaemia-like, MIM# 617911","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:29:30.411601+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3516","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPO were set to 27651169; 29514032; 25985138; 28283061","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:29:07.384227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3515","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: EPO was changed from Other to None","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:28:03.940400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3514","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:27:35.057588+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3513","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 27651169, 29514032, 32130275, 20700488, 30507031, 28283061, 41137542; Phenotypes: Erythrocytosis, familial, 5, MIM# 617907, Diamond-Blackfan anaemia-like, MIM# 617911; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:24:54.335668+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPO were set to 27651169; 29514032; 32130275; 20700488; 30507031; 28283061","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:24:38.538958+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:24:26.870067+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 41137542: further report of homozygous missense variant causing DBAL phenotype.; to: PMID 41137542: further report of homozygous missense variant causing DBAL phenotype. Amber for bi-allelic association.","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:24:09.322738+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EPO: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:23:35.119650+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: EPO: Mono-allelic disorder postulated to be GoF while bi-allelic disorder postulated to be LoF.","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-03T09:19:37.921161+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EPO: Added comment: PMID 41137542: further report of homozygous missense variant causing DBAL phenotype.; Changed publications: 27651169, 29514032, 32130275, 20700488, 30507031, 28283061, 41137542; Changed phenotypes: Erythrocytosis, familial, 5, MIM# 617907, Diamond-Blackfan anaemia-like, MIM# 617911","entity_name":"EPO","entity_type":"gene"},{"created":"2025-11-02T16:31:01.119948+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: IRF3 were set to 26216125; 20660188; 26513235","entity_name":"IRF3","entity_type":"gene"},{"created":"2025-11-02T16:30:36.008707+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: IRF3 were set to 26216125; 20660188; 26513235","entity_name":"IRF3","entity_type":"gene"},{"created":"2025-11-02T16:30:29.721771+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972995, 38665565, 33386334, 41065760, 26216125, 26513235; Phenotypes: Inborn error of immunity MONDO:0003778; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF3","entity_type":"gene"},{"created":"2025-11-02T16:29:53.409253+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972995, 38665565, 33386334, 41065760, 26216125, 26513235; Phenotypes: Inborn error of immunity MONDO:0003778; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF3","entity_type":"gene"},{"created":"2025-11-02T16:29:50.274523+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3513","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: IRF3 were set to 26513235","entity_name":"IRF3","entity_type":"gene"},{"created":"2025-11-02T16:28:16.452790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32972995, 38665565, 33386334, 41065760, 26216125, 26513235; Phenotypes: Inborn error of immunity MONDO:0003778; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF3","entity_type":"gene"},{"created":"2025-10-31T16:38:02.254416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2025-10-31T16:37:47.258873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFNGR2: Added comment: PMID 23161749: some evidence that haploinsufficiency causes mono-allelic disease. Amber for this association.; Changed publications: 15924140, 18625743, 31222290, 23161749, 23161749; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IFNGR2","entity_type":"gene"},{"created":"2025-10-31T11:58:53.207292+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3512","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRP12","entity_type":"gene"},{"created":"2025-10-31T11:58:26.831973+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRP12","entity_type":"gene"},{"created":"2025-10-30T20:43:37.383471+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXorf56 as ready","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:43:37.379110+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: New HGNC approved name is STEEP1","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:43:37.357205+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxorf56 has been classified as Green List (High Evidence).","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:43:20.548756+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CXorf56 were changed from Mental retardation, X-linked 107, MIM#\t301013 to Intellectual developmental disorder, X-linked 107, MIM# 301013","entity_name":"CXorf56","entity_type":"gene"},{"created":"2025-10-30T20:42:57.918372+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CXorf56.","entity_name":"CXorf56","entity_type":"gene"}]}