{"count":220482,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=79","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=77","results":[{"created":"2025-12-22T17:13:43.267613+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Green List (High Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:09:08.375582+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:08:37.079911+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3848","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:08:19.314158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3847","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS28 were set to 24942156","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:08:01.859340+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3846","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS28 as Green List (high evidence)","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:08:01.850177+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Green List (High Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:07:44.650767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3845","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:07:06.792595+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:06:40.256487+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS28 were set to 24942156","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:06:08.975095+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS28 as Green List (high evidence)","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:06:08.966013+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Green List (High Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:05:41.942983+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:05:17.000933+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:04:51.714015+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.134","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS28 were set to PMID: 24942156","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:04:23.907450+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS28 as Green List (high evidence)","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:04:23.900017+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Green List (High Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:03:55.946560+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; to: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:03:45.030624+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: None; Publications: 40135709; Phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:03:07.627401+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:02:42.847724+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS28 were set to 24942156","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:02:15.474119+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS28 as Green List (high evidence)","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:02:15.463283+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps28 has been classified as Green List (High Evidence).","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T17:01:48.470621+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709","entity_name":"RPS28","entity_type":"gene"},{"created":"2025-12-22T16:27:43.315913+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJA3 were set to 34750646; 30770860","entity_name":"DNAJA3","entity_type":"gene"},{"created":"2025-12-22T16:27:05.266129+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAJA3: Added comment: PMID 41354729 describes a third unrelated family with compound heterozygous DNAJA3 missense variants presenting with isolated recurrent polyneuropathy. Retain Amber rating as the genetic and functional data are both limited.; Changed publications: 34750646, 30770860, 41354729","entity_name":"DNAJA3","entity_type":"gene"},{"created":"2025-12-22T16:26:20.436117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3845","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJA3 were set to 34750646; 30770860","entity_name":"DNAJA3","entity_type":"gene"},{"created":"2025-12-22T16:25:49.035601+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3844","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAJA3: Added comment: PMID 41354729 describes a third unrelated family with compound heterozygous DNAJA3 missense variants presenting with isolated recurrent polyneuropathy. Retain Amber rating as the genetic and functional data are both limited.; Changed publications: 34750646, 30770860, 41354729","entity_name":"DNAJA3","entity_type":"gene"},{"created":"2025-12-22T16:11:29.881889+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM72 as ready","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T16:11:29.871495+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem72 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T16:11:09.628967+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM72 as Amber List (moderate evidence)","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T16:11:09.621959+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem72 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T16:07:54.105085+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM72 was added\ngene: TMEM72 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: TMEM72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM72 were set to 41308066\nPhenotypes for gene: TMEM72 were set to Nephronophthisis, MONDO:0019005, TMEM72-related\nReview for gene: TMEM72 was set to AMBER\nAdded comment: PMID 41308066 reports nine individuals from six families with biallelic TMEM72 variants. However, families A-C share same variant and haplotype, suggestive of a found effect. Further, the variant is p.Gln2*, which likely escapes NMD. Clinical presentation was nephronophthisis‑like kidney disease with adult‑onset kidney failure, hypertension and polyuria. One family (F) had homozygous missense variant, p.Gly124Ser, and showed prenatal‑onset cystic kidney disease, vesicoureteral reflux and early epilepsy. Functional studies demonstrate reduced TMEM72 expression and ciliary localisation.\r\n\r\nConcerns about the quality of the genetic and experimental data, hence Amber rating. \nSources: Literature","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T15:06:44.008032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM72 as ready","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T15:06:43.999650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem72 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T15:06:35.079942+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM72 as Amber List (moderate evidence)","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T15:06:35.072692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem72 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T15:06:19.834521+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3843","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM72 was added\ngene: TMEM72 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM72 were set to 41308066\nPhenotypes for gene: TMEM72 were set to Nephronophthisis, MONDO:0019005, TMEM72-related\nReview for gene: TMEM72 was set to AMBER\nAdded comment: PMID 41308066 reports nine individuals from six families with biallelic TMEM72 variants. However, families A-C share same variant and haplotype, suggestive of a found effect. Further, the variant is p.Gln2*, which likely escapes NMD. Clinical presentation was nephronophthisis‑like kidney disease with adult‑onset kidney failure, hypertension and polyuria. One family (F) had homozygous missense variant, p.Gly124Ser, and showed prenatal‑onset cystic kidney disease, vesicoureteral reflux and early epilepsy. Functional studies demonstrate reduced TMEM72 expression and ciliary localisation.\r\n\r\nConcerns about the quality of the genetic and experimental data, hence Amber rating. \nSources: Literature","entity_name":"TMEM72","entity_type":"gene"},{"created":"2025-12-22T12:48:33.116551+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.526","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R3F as Amber List (moderate evidence)","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-22T12:48:33.108158+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.526","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-22T12:47:55.969997+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R3F as Amber List (moderate evidence)","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-22T12:47:55.961397+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-22T12:47:07.180665+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3842","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP1R3F as Amber List (moderate evidence)","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-22T12:47:07.173423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-22T12:45:57.170028+11:00","panel_name":"Osteopetrosis","panel_id":150,"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":"2025-12-22T11:02:54.303498+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3841","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP6 were changed from Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268 to Osteopetrosis, autosomal dominant 4, MIM# 621449; Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:02:36.449839+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3840","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP6 were set to 26387593; 34896607","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:02:13.417774+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3839","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model.; to: Association with vitreoretinopathy: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model. AMBER for this association.","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:01:38.726506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3839","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRP6: Added comment: Association with osteopetrosis: 5 families reported with a dentoosseous disorder characterised by enhanced osteoblast-mediated bone formation resulting in generalized osteosclerosis and endosteal hyperostosis. Other features include missing teeth, torus palatinus, and intraoral exostoses that sometimes surround teeth. GREEN for this association.; Changed rating: GREEN; Changed publications: 34896607, 31085352, 32730923, 37065631, 38385987; Changed phenotypes: Exudative vitreoretinopathy 8, MIM# 621268, Osteopetrosis, autosomal dominant 4, MIM# 621449","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:00:33.374571+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP6 as ready","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:00:33.363627+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp6 has been classified as Green List (High Evidence).","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:00:22.553969+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRP6 as Green List (high evidence)","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T11:00:22.542608+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp6 has been classified as Green List (High Evidence).","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T10:59:54.580669+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP6 was added\ngene: LRP6 was added to Osteopetrosis. Sources: Expert List\nMode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRP6 were set to 31085352; 32730923; 37065631; 38385987\nPhenotypes for gene: LRP6 were set to Osteopetrosis, autosomal dominant 4, MIM#\t621449\nReview for gene: LRP6 was set to GREEN\nAdded comment: 5 families reported with a dentoosseous disorder characterised by enhanced osteoblast-mediated bone formation resulting in generalized osteosclerosis and endosteal hyperostosis. Other features include missing teeth, torus palatinus, and intraoral exostoses that sometimes surround teeth. \nSources: Expert List","entity_name":"LRP6","entity_type":"gene"},{"created":"2025-12-22T10:54:17.889199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3839","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRP12 were changed from Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications to Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-12-22T10:53:56.700629+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3838","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-12-22T10:53:35.985439+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"2.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRP12 were changed from Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications to Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-12-22T10:52:52.591872+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"2.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RRP12","entity_type":"gene"},{"created":"2025-12-22T10:08:17.647536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: USP25.","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:07:25.569982+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP25 as Red List (low evidence)","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:07:25.562577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp25 has been classified as Red List (Low Evidence).","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:07:03.977929+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3837","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:06:24.786219+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.319","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP25 as Red List (low evidence)","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:06:24.778572+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp25 has been classified as Red List (Low Evidence).","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:05:52.639012+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.318","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: USP25.","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-22T10:05:40.819773+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.318","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: USP25: Added comment: DISPUTED by ClinGen.; Changed rating: RED","entity_name":"USP25","entity_type":"gene"},{"created":"2025-12-20T17:05:04.553407+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.525","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-20T17:03:58.330645+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.318","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-20T17:02:24.672173+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3837","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"PPP1R3F","entity_type":"gene"},{"created":"2025-12-20T09:10:38.226540+11:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.270","user_name":"Bryony Thompson","item_type":"entity","text":"MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA","entity_name":"MARCHF6_FAME3_TTTCA","entity_type":"str"},{"created":"2025-12-20T09:10:33.364008+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.318","user_name":"Bryony Thompson","item_type":"entity","text":"MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA","entity_name":"MARCHF6_FAME3_TTTCA","entity_type":"str"},{"created":"2025-12-20T09:09:36.869861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3837","user_name":"Bryony Thompson","item_type":"entity","text":"MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA","entity_name":"MARCHF6_FAME3_TTTCA","entity_type":"str"},{"created":"2025-12-20T09:08:02.486231+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3836","user_name":"Bryony Thompson","item_type":"panel","text":"Copied STR MARCH6_FAME3_TTTCA from panel Genetic Epilepsy","entity_name":null,"entity_type":null},{"created":"2025-12-20T09:08:01.101264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3836","user_name":"Bryony Thompson","item_type":"entity","text":"STR: MARCH6_FAME3_TTTCA was added\nSTR: MARCH6_FAME3_TTTCA was added to Mendeliome. Sources: Expert Review Green,Literature\nMode of inheritance for STR: MARCH6_FAME3_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: MARCH6_FAME3_TTTCA were set to 31664039\nPhenotypes for STR: MARCH6_FAME3_TTTCA were set to Epilepsy, familial adult myoclonic, 3 MIM#613608","entity_name":"MARCH6_FAME3_TTTCA","entity_type":"str"},{"created":"2025-12-19T18:59:42.541081+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX11 as ready","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-12-19T18:59:42.529081+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx11 has been classified as Green List (High Evidence).","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-12-19T18:57:59.772669+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF21A as ready","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:57:59.761417+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:57:21.575239+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.489","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF21A as ready","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:57:21.567612+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.489","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:56:17.401677+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.525","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF21A were set to ","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:55:10.416764+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF21A as ready","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:55:10.409381+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T18:54:41.680392+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37423-Loss as ready","entity_name":"ISCA-37423-Loss","entity_type":"region"},{"created":"2025-12-19T18:54:41.671475+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37423-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37423-Loss","entity_type":"region"},{"created":"2025-12-19T18:54:26.700954+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37423-Loss as ready","entity_name":"ISCA-37423-Loss","entity_type":"region"},{"created":"2025-12-19T18:54:26.693546+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37423-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37423-Loss","entity_type":"region"},{"created":"2025-12-19T18:54:07.162529+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37424-Loss as ready","entity_name":"ISCA-37424-Loss","entity_type":"region"},{"created":"2025-12-19T18:54:07.156113+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37424-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37424-Loss","entity_type":"region"},{"created":"2025-12-19T18:53:46.152181+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37424-Loss as ready","entity_name":"ISCA-37424-Loss","entity_type":"region"},{"created":"2025-12-19T18:53:46.145975+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37424-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37424-Loss","entity_type":"region"},{"created":"2025-12-19T18:53:20.727935+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37425-Gain as ready","entity_name":"ISCA-37425-Gain","entity_type":"region"},{"created":"2025-12-19T18:53:20.718421+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37425-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37425-Gain","entity_type":"region"},{"created":"2025-12-19T18:52:55.496992+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37425-Gain as ready","entity_name":"ISCA-37425-Gain","entity_type":"region"},{"created":"2025-12-19T18:52:55.489649+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37425-gain has been classified as Green List (High Evidence).","entity_name":"ISCA-37425-Gain","entity_type":"region"},{"created":"2025-12-19T18:49:21.733298+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37425-Loss as ready","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T18:49:21.723731+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.524","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37425-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T18:49:04.755485+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37425-Loss as ready","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T18:49:04.748703+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37425-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T18:48:39.890532+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked Region: ISCA-37425-Loss as ready","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T18:48:39.881019+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Region: isca-37425-loss has been classified as Green List (High Evidence).","entity_name":"ISCA-37425-Loss","entity_type":"region"}]}