{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=14","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=12","results":[{"created":"2026-03-25T18:59:59.650287+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM71 as ready","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T18:59:59.639867+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim71 has been classified as Green List (High Evidence).","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T18:59:42.731402+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM71 as Green List (high evidence)","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T18:59:42.721212+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim71 has been classified as Green List (High Evidence).","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T18:59:14.258569+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.339","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM71 was added\ngene: TRIM71 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM71 were set to 40892928\nPhenotypes for gene: TRIM71 were set to Congenital hydrocephalus 4 (MIM#618667)\nReview for gene: TRIM71 was set to GREEN\nAdded comment: Reports 3 individuals from 3 unrelated families with heterozygous missense TRIM71 variants (p.Q334R, p.R608H, p.R796H) presenting with childhood‑onset syndromic hearing loss, often accompanied by congenital hydrocephalus, renal cysts, facial dysmorphism and other developmental anomalies. Two individuals (p.Q334R and p.R608H) have detailed clinical work‑up (sensorineural or mixed severe loss, inner ear malformations) and functional assays demonstrate that p.Q334R mis‑localises TRIM71 to P‑bodies and p.R608H disrupts RNA binding. Mouse models with loss‑of‑function or the human HL‑associated missense allele recapitulate severe hearing loss, confirming the pathogenic mechanism as loss‑of‑function of TRIM71. \nSources: Literature","entity_name":"TRIM71","entity_type":"gene"},{"created":"2026-03-25T18:26:09.647406+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4616","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7 - MIM# 612301 to Osteopetrosis, autosomal recessive 7 - MIM# 612301; familial expansile osteolysis, MONDO:0008275","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2026-03-25T18:25:46.002633+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4615","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNFRSF11A were set to 18606301; 32048120","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2026-03-25T18:25:18.121713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4614","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF11A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2026-03-25T18:25:01.740288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4613","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNFRSF11A: Added comment: Two independent studies (PMID 36740137, PMID 40222603) document three unrelated families with heterozygous exon‑1 in‑frame duplications (c.52_63dup, c.39_65dup) that act as gain‑of‑function alleles, producing a dominant dento‑osseous / familial expansile osteolysis phenotype with hearing loss, tooth root resorption and tendon avulsion.; Changed publications: 10.64898/2026.02.18.706528, 40222603, 36740137, 35812760, 33037392, 31163101; Changed phenotypes: familial expansile osteolysis, MONDO:0008275; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNFRSF11A","entity_type":"gene"},{"created":"2026-03-25T18:21:13.200693+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBK1 as ready","entity_name":"TBK1","entity_type":"gene"},{"created":"2026-03-25T18:21:13.188944+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbk1 has been classified as Green List (High Evidence).","entity_name":"TBK1","entity_type":"gene"},{"created":"2026-03-25T18:21:10.801866+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBK1 were changed from  to Hereditary predisposition to infections, MONDO:0015979, TBK1-related","entity_name":"TBK1","entity_type":"gene"},{"created":"2026-03-25T18:20:49.372398+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBK1 were set to ","entity_name":"TBK1","entity_type":"gene"},{"created":"2026-03-25T18:20:18.345622+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TBK1","entity_type":"gene"},{"created":"2026-03-25T17:22:20.377847+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLD1 as ready","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:22:20.370504+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pold1 has been classified as Green List (High Evidence).","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:22:17.311221+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157; Immunodeficiency 120, MIM#\t620836 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:21:42.121018+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:21:11.086817+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:20:54.890680+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLD1: Changed phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:20:30.575431+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene POLD1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-25T17:20:30.418431+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLD1 was added\ngene: POLD1 was added to Mandibulofacial Acrofacial dysostosis. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLD1 were set to 31629014; 31449058; 23770608; 33618333; 33369179; 32826474; 30023403; 29199204; 28791128\nPhenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157; Immunodeficiency 120, MIM#\t620836","entity_name":"POLD1","entity_type":"gene"},{"created":"2026-03-25T17:03:43.595290+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.433","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPTN as ready","entity_name":"OPTN","entity_type":"gene"},{"created":"2026-03-25T17:03:43.588097+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: optn has been classified as Green List (High Evidence).","entity_name":"OPTN","entity_type":"gene"},{"created":"2026-03-25T17:03:40.623687+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.433","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPTN were changed from  to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)","entity_name":"OPTN","entity_type":"gene"},{"created":"2026-03-25T17:03:18.344181+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.432","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPTN were set to ","entity_name":"OPTN","entity_type":"gene"},{"created":"2026-03-25T17:02:50.691349+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"OPTN","entity_type":"gene"},{"created":"2026-03-25T17:00:40.306285+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.545","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUS1 as Red List (low evidence)","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T17:00:40.299300+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Red List (Low Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T17:00:27.467287+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.544","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NUS1: Added comment: Limited evidence for the AR disorder, little if any replication over time which is concerning. Monoallelic disorder lacks prenatal findings.; Changed rating: RED","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T16:59:25.076612+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4613","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUS1 were changed from Congenital disorder of glycosylation, type 1aa 617082; Mental retardation, autosomal dominant 55, with seizures 617831 to Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM#\t617831","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T16:58:44.489397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4612","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NUS1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T16:58:25.547190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4611","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NUS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type 1aa, MIM# 617082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T16:57:35.655940+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUS1 as Red List (low evidence)","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T16:57:35.649130+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nus1 has been classified as Red List (Low Evidence).","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-25T16:57:00.538360+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NUS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type 1aa, MIM#  617082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUS1","entity_type":"gene"},{"created":"2026-03-24T18:31:15.181764+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KNG1 as ready","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:31:15.171338+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kng1 has been classified as Green List (High Evidence).","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:31:11.380100+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KNG1 were changed from angioedema, hereditary, 6, MONDO:0023660; congenital high-molecular-weight kininogen deficiency, MONDO:0009234 to congenital high-molecular-weight kininogen deficiency, MONDO:0009234","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:30:42.000286+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KNG1 were set to 41634406; 40848077; 36700498; 33114181; 32185598; 31858768; 31087670","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:30:14.809502+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KNG1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:29:50.735920+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:29:49.266817+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:29:46.353495+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KNG1: Changed publications: 36700498; Changed phenotypes: congenital high-molecular-weight kininogen deficiency, MONDO:0009234; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:29:05.948371+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene KNG1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-03-24T18:29:05.762791+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KNG1 was added\ngene: KNG1 was added to Bleeding and Platelet Disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: KNG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KNG1 were set to 41634406; 40848077; 36700498; 33114181; 32185598; 31858768; 31087670\nPhenotypes for gene: KNG1 were set to angioedema, hereditary, 6, MONDO:0023660; congenital high-molecular-weight kininogen deficiency, MONDO:0009234","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:28:10.898467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4611","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KNG1 were changed from Hereditary angioedema-6 (HAE6), MIM#619363 to angioedema, hereditary, 6, MONDO:0023660; congenital high-molecular-weight kininogen deficiency, MONDO:0009234","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:27:54.961525+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4610","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KNG1 were set to 31087670; 33114181","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:27:38.770523+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4609","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KNG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T18:27:20.290257+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4608","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KNG1: Added comment: PMID 36700498 aggregates 48 patients from 41 unrelated families with biallelic truncating or splice‑site KNG1 variants. Prolonged aPTT and but lack of evidence for increased incidence of major bleeding episodes.; Changed publications: 41634406, 40848077, 36700498, 33114181, 32185598, 31858768, 31087670; Changed phenotypes: angioedema, hereditary, 6, MONDO:0023660, congenital high-molecular-weight kininogen deficiency, MONDO:0009234; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KNG1","entity_type":"gene"},{"created":"2026-03-24T17:36:33.546634+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT10A as ready","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:36:33.536900+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt10a has been classified as Red List (Low Evidence).","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:36:31.140871+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT10A were changed from  to Odontoonychodermal dysplasia 257980 AR Schopf-Schulz-Passarge syndrome 224750 AR Tooth agenesis, selective, 4 150400 AR, AD","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:35:32.706755+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNT10A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:35:11.538577+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT10A were set to ","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:33:04.758459+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT10A as Red List (low evidence)","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:33:04.747221+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt10a has been classified as Red List (Low Evidence).","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:32:43.648233+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNT10A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"WNT10A","entity_type":"gene"},{"created":"2026-03-24T17:30:59.509162+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2026-03-24T17:30:45.865841+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSG3 as ready","entity_name":"DSG3","entity_type":"gene"},{"created":"2026-03-24T17:30:45.856683+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg3 has been classified as Amber List (Moderate Evidence).","entity_name":"DSG3","entity_type":"gene"},{"created":"2026-03-24T17:29:31.638335+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene DSG3 from panel Epidermolysis bullosa","entity_name":null,"entity_type":null},{"created":"2026-03-24T17:29:31.413661+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DSG3 was added\ngene: DSG3 was added to Desmosomal disorders. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: DSG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSG3 were set to 26763450; 37850634; 30528827\nPhenotypes for gene: DSG3 were set to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226","entity_name":"DSG3","entity_type":"gene"},{"created":"2026-03-24T17:26:38.736356+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP63 as ready","entity_name":"TP63","entity_type":"gene"},{"created":"2026-03-24T17:26:38.725438+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp63 has been classified as Green List (High Evidence).","entity_name":"TP63","entity_type":"gene"},{"created":"2026-03-24T17:24:28.309811+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TP63 were changed from  to Rapp-Hodgkin syndrome, MIM# 129400","entity_name":"TP63","entity_type":"gene"},{"created":"2026-03-24T17:23:42.991385+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TP63","entity_type":"gene"},{"created":"2026-03-24T17:23:16.578333+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rapp-Hodgkin syndrome, MIM# 129400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TP63","entity_type":"gene"},{"created":"2026-03-24T17:20:23.572269+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDARADD as ready","entity_name":"EDARADD","entity_type":"gene"},{"created":"2026-03-24T17:20:23.564990+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: edaradd has been classified as Green List (High Evidence).","entity_name":"EDARADD","entity_type":"gene"},{"created":"2026-03-24T17:19:49.496141+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSP as ready","entity_name":"DSP","entity_type":"gene"},{"created":"2026-03-24T17:19:49.485385+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsp has been classified as Green List (High Evidence).","entity_name":"DSP","entity_type":"gene"},{"created":"2026-03-24T17:19:47.038179+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSP were changed from  to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821","entity_name":"DSP","entity_type":"gene"},{"created":"2026-03-24T17:19:26.619752+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DSP","entity_type":"gene"},{"created":"2026-03-24T17:18:58.300847+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DSP","entity_type":"gene"},{"created":"2026-03-24T17:17:15.053073+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBA3D as ready","entity_name":"TUBA3D","entity_type":"gene"},{"created":"2026-03-24T17:17:15.040241+11:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuba3d has been classified as Amber List (Moderate Evidence).","entity_name":"TUBA3D","entity_type":"gene"},{"created":"2026-03-24T17:13:57.924342+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked STR: PHOX2B_CCHS_GCN as ready","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-03-24T17:13:57.917878+11:00","panel_name":"Central Hypoventilation","panel_id":71,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Str: phox2b_cchs_gcn has been classified as Green List (High Evidence).","entity_name":"PHOX2B_CCHS_GCN","entity_type":"str"},{"created":"2026-03-24T17:13:14.981671+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2026-03-24T17:11:24.169616+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2026-03-24T17:10:03.972700+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELP4 as ready","entity_name":"ELP4","entity_type":"gene"},{"created":"2026-03-24T17:10:03.964716+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elp4 has been classified as Green List (High Evidence).","entity_name":"ELP4","entity_type":"gene"},{"created":"2026-03-24T17:09:31.546659+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRYBA2 as ready","entity_name":"CRYBA2","entity_type":"gene"},{"created":"2026-03-24T17:09:31.539162+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cryba2 has been classified as Green List (High Evidence).","entity_name":"CRYBA2","entity_type":"gene"},{"created":"2026-03-24T17:08:06.955467+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from Abnormality of the autonomic nervous system HP:0002270 to \nList of related panels changed from  to Abnormality of the autonomic nervous system HP:0002270","entity_name":null,"entity_type":null},{"created":"2026-03-24T17:07:50.133111+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of the autonomic nervous system HP:0002270","entity_name":null,"entity_type":null},{"created":"2026-03-24T16:32:39.719165+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2026-03-24T16:32:18.433050+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NGF as ready","entity_name":"NGF","entity_type":"gene"},{"created":"2026-03-24T16:32:18.421869+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ngf has been classified as Green List (High Evidence).","entity_name":"NGF","entity_type":"gene"},{"created":"2026-03-24T16:31:26.039858+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2026-03-24T16:31:08.675145+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGKE as ready","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:31:08.668075+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgke has been classified as Red List (Low Evidence).","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:30:57.211384+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGKE were changed from  to Nephrotic syndrome, type 7, MIM# 615008","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:30:34.493662+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DGKE were set to ","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:30:06.705223+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:29:47.176345+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DGKE as Red List (low evidence)","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:29:47.167057+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgke has been classified as Red List (Low Evidence).","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:29:18.234683+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DGKE: Added comment: Not appropriate for this panel, causes nephrotic syndrome.; Changed rating: RED","entity_name":"DGKE","entity_type":"gene"},{"created":"2026-03-24T16:28:32.848098+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFI as ready","entity_name":"CFI","entity_type":"gene"}]}