{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=623","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=621","results":[{"created":"2023-03-27T11:48:37.686446+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM38B was added\ngene: TMEM38B was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM38B were set to 23054245; 28323974\nPhenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066\nReview for gene: TMEM38B was set to GREEN\nAdded comment: More than 10 families reported.\r\n\r\nVariable severity, onset of fractures generally in infancy.\r\n\r\nTreatment: bisphosphanates; improvement in BMD reported.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert list","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:46:57.152466+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM38B as ready","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:46:57.141752+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem38b has been classified as Green List (High Evidence).","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:46:15.128469+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM38B were changed from  to Osteogenesis imperfecta, type XIV , MIM#615066","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:40:22.957397+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM38B were set to ","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:39:53.954822+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM38B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:39:25.027683+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23054245, 28323974; Phenotypes: Osteogenesis imperfecta, type XIV , MIM#615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:36:00.916589+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPARC as ready","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T11:36:00.903723+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sparc has been classified as Green List (High Evidence).","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T11:31:04.051261+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.99","user_name":"Aimee Huynh","item_type":"entity","text":"gene: C17orf62 was added\ngene: C17orf62 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf62 were set to 28600779, 30361506\nPhenotypes for gene: C17orf62 were set to Chronic granulomatous disease\nPenetrance for gene: C17orf62 were set to unknown\nReview for gene: C17orf62 was set to AMBER\ngene: C17orf62 was marked as current diagnostic\nAdded comment: Homozygous LOF mutation leading to CYBC1 deficiency causes CGD in pair of Icelandic brothers and 6 other individuals - colitis an early feature. Brothers diagnosed with Crohn's at ages 7 and 9 years. 3 out of 6 other individuals also had colitis. \nSources: Expert Review","entity_name":"C17orf62","entity_type":"gene"},{"created":"2023-03-27T11:03:09.685252+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPARC were changed from  to Osteogenesis imperfecta, type XVII, MIM# 616507","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T11:02:46.405625+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPARC as ready","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T11:02:46.393378+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sparc has been classified as Red List (Low Evidence).","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T11:02:38.486049+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2102","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPARC was added\ngene: SPARC was added to Baby Screen+ newborn screening. Sources: Expert list\nskeletal tags were added to gene: SPARC.\nMode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPARC were set to 26027498; 34462290\nPhenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507\nReview for gene: SPARC was set to RED\nAdded comment: Established gene-disease association, 5 families reported.\r\n\r\nOnset of fractures in infancy.\r\n\r\nProminent neuromuscular features, MRI brain changes; some with ID.\r\n\r\nTreatment: bisphosphanates are generally used in OI but the case reports where these have been used do not seem terribly convincing in terms of response/improvement.\r\n\r\nExclude for now. \nSources: Expert list","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T11:00:56.731358+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPARC were set to ","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T10:45:08.053159+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPARC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T10:44:36.398022+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPARC: Changed rating: GREEN","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T10:44:30.351549+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPARC: Rating: ; Mode of pathogenicity: None; Publications: 26027498, 34462290; Phenotypes: Osteogenesis imperfecta, type XVII, MIM# 616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPARC","entity_type":"gene"},{"created":"2023-03-27T10:42:17.131295+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SP7 as ready","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:42:17.117350+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:42:06.044013+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, MIM# 613849","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:41:50.883079+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SP7 were set to ","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:41:39.978185+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2099","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SP7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:41:29.703757+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2098","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SP7 as Amber List (moderate evidence)","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:41:29.695042+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2098","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:41:18.314100+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2097","user_name":"Zornitza Stark","item_type":"entity","text":"Tag skeletal tag was added to gene: SP7.","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T10:41:08.288058+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2097","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 36881265; Phenotypes: Osteogenesis imperfecta, type XII, MIM# 613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SP7","entity_type":"gene"},{"created":"2023-03-27T09:54:19.552569+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2097","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINH1 as ready","entity_name":"SERPINH1","entity_type":"gene"},{"created":"2023-03-27T09:54:19.543674+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2097","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinh1 has been classified as Green List (High Evidence).","entity_name":"SERPINH1","entity_type":"gene"},{"created":"2023-03-27T09:54:13.919476+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2097","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINH1 as Green List (high evidence)","entity_name":"SERPINH1","entity_type":"gene"},{"created":"2023-03-27T09:54:13.905146+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2097","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinh1 has been classified as Green List (High Evidence).","entity_name":"SERPINH1","entity_type":"gene"},{"created":"2023-03-27T09:54:02.308473+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2096","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINH1 was added\ngene: SERPINH1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, skeletal tags were added to gene: SERPINH1.\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINH1 were set to 29520608; 25510505; 33524049\nPhenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, MIM#\t613848\nReview for gene: SERPINH1 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset of fractures is in infancy.\r\n\r\nTreatment: bisphosphanates.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert list","entity_name":"SERPINH1","entity_type":"gene"},{"created":"2023-03-27T09:49:46.642161+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINF1 as ready","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:49:46.633928+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinf1 has been classified as Green List (High Evidence).","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:49:43.236355+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERPINF1 were changed from  to Osteogenesis imperfecta, type VI, MIM# 613982","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:49:11.592377+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SERPINF1 were set to ","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:48:44.399370+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SERPINF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:48:14.765706+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2095","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERPINF1 as ready","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:48:14.753703+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2095","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinf1 has been classified as Green List (High Evidence).","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:48:03.969324+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2095","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINF1 as Green List (high evidence)","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:48:03.960669+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2095","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpinf1 has been classified as Green List (High Evidence).","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:47:52.528690+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2094","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SERPINF1 was added\ngene: SERPINF1 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, skeletal tags were added to gene: SERPINF1.\nMode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINF1 were set to 28689307\nPhenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982\nReview for gene: SERPINF1 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset of fractures is in infancy.\r\n\r\nTreatment: bisphosphanates.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert list","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:46:27.266094+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28689307; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERPINF1","entity_type":"gene"},{"created":"2023-03-27T09:43:46.301543+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2093","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPIB as ready","entity_name":"PPIB","entity_type":"gene"},{"created":"2023-03-27T09:43:46.287939+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2093","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppib has been classified as Red List (Low Evidence).","entity_name":"PPIB","entity_type":"gene"},{"created":"2023-03-27T09:43:36.967772+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2093","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIB was added\ngene: PPIB was added to Baby Screen+ newborn screening. Sources: Expert list\nskeletal tags were added to gene: PPIB.\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIB were set to 19781681; 32392875\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440\nReview for gene: PPIB was set to RED\nAdded comment: Established gene-diseases association.\r\n\r\nMost reported families have had severe OI, presenting perinatally, therefore exclude. \nSources: Expert list","entity_name":"PPIB","entity_type":"gene"},{"created":"2023-03-27T09:37:58.164814+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2092","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLOD2 as ready","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:37:58.149264+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2092","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plod2 has been classified as Red List (Low Evidence).","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:37:47.405535+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2092","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLOD2 were changed from Bruck syndrome to Bruck syndrome 2, MIM# 609220","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:37:29.214050+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:31:48.960989+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLOD2 as ready","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:31:48.945773+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plod2 has been classified as Green List (High Evidence).","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:31:40.792457+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLOD2 were changed from  to Bruck syndrome 2, MIM# 609220","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:31:13.120489+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLOD2 were set to ","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:30:23.321483+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLOD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:29:51.930375+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12881513, 15523624, 22689593; Phenotypes: Bruck syndrome 2, MIM# 609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD2","entity_type":"gene"},{"created":"2023-03-27T09:27:14.914098+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype.; to: Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Bone fragility is part of the phenotype.","entity_name":"P4HB","entity_type":"gene"},{"created":"2023-03-24T18:32:25.370296+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P3H1 as ready","entity_name":"P3H1","entity_type":"gene"},{"created":"2023-03-24T18:32:25.359398+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p3h1 has been classified as Green List (High Evidence).","entity_name":"P3H1","entity_type":"gene"},{"created":"2023-03-24T18:32:20.700836+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: P3H1 as Green List (high evidence)","entity_name":"P3H1","entity_type":"gene"},{"created":"2023-03-24T18:32:20.687614+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p3h1 has been classified as Green List (High Evidence).","entity_name":"P3H1","entity_type":"gene"},{"created":"2023-03-24T18:32:09.487506+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2090","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P3H1 was added\ngene: P3H1 was added to Baby Screen+ newborn screening. Sources: Expert Review\ntreatable, skeletal tags were added to gene: P3H1.\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P3H1 were set to 17277775; 18566967\nPhenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915)\nReview for gene: P3H1 was set to GREEN\nAdded comment: More than 15 families reported.\r\n\r\nCongenital onset.\r\n\r\nTreatment: bisphosphanates.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert Review","entity_name":"P3H1","entity_type":"gene"},{"created":"2023-03-24T18:28:25.473986+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MESD as ready","entity_name":"MESD","entity_type":"gene"},{"created":"2023-03-24T18:28:25.466362+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mesd has been classified as Green List (High Evidence).","entity_name":"MESD","entity_type":"gene"},{"created":"2023-03-24T18:28:16.963446+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MESD as Green List (high evidence)","entity_name":"MESD","entity_type":"gene"},{"created":"2023-03-24T18:28:16.949069+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2089","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mesd has been classified as Green List (High Evidence).","entity_name":"MESD","entity_type":"gene"},{"created":"2023-03-24T18:28:04.059288+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2088","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MESD was added\ngene: MESD was added to Baby Screen+ newborn screening. Sources: Expert Review\ntreatable, skeletal tags were added to gene: MESD.\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437; 35092157; 33596325; 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM#\t618644\nReview for gene: MESD was set to GREEN\nAdded comment: More than 5 families reported.\r\n\r\nSevere form of OI, some perinatal lethal.\r\n\r\nTreatment: bisphosphanates.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert Review","entity_name":"MESD","entity_type":"gene"},{"created":"2023-03-24T18:22:14.349478+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2087","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDELR2 as ready","entity_name":"KDELR2","entity_type":"gene"},{"created":"2023-03-24T18:22:14.333380+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdelr2 has been classified as Green List (High Evidence).","entity_name":"KDELR2","entity_type":"gene"},{"created":"2023-03-24T18:19:43.757277+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2087","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDELR2 as Green List (high evidence)","entity_name":"KDELR2","entity_type":"gene"},{"created":"2023-03-24T18:19:43.749058+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdelr2 has been classified as Green List (High Evidence).","entity_name":"KDELR2","entity_type":"gene"},{"created":"2023-03-24T18:19:32.388816+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2086","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDELR2 was added\ngene: KDELR2 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, skeletal tags were added to gene: KDELR2.\nMode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KDELR2 were set to Osteogenesis imperfecta 21, MIM# 619131\nReview for gene: KDELR2 was set to GREEN\nAdded comment: 4 families with osteogenesis imperfecta reported with functional studies.\r\n\r\nOnset in infancy.\r\n\r\nImprovement reported with bisphosphanates, similar to other OI.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert list","entity_name":"KDELR2","entity_type":"gene"},{"created":"2023-03-24T14:59:22.375845+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2085","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKBP10 as ready","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-03-24T14:59:22.367702+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp10 has been classified as Green List (High Evidence).","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-03-24T14:59:13.838156+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2085","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKBP10 as Green List (high evidence)","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-03-24T14:59:13.827795+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp10 has been classified as Green List (High Evidence).","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-03-24T14:58:59.717835+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2084","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FKBP10.\nTag skeletal tag was added to gene: FKBP10.","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-03-24T14:58:46.481471+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2084","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FKBP10 was added\ngene: FKBP10 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKBP10 were set to 34173012\nPhenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, OMIM:610968\nReview for gene: FKBP10 was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nEarly-onset bone fractures and progressive skeletal deformities.\r\n\r\nTreatment: bisphosphanates.\r\n\r\nNon-genetic confirmatory testing: skeletal survey. \nSources: Expert list","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-03-24T14:46:32.874837+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP1 as ready","entity_name":"BMP1","entity_type":"gene"},{"created":"2023-03-24T14:46:32.861458+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp1 has been classified as Green List (High Evidence).","entity_name":"BMP1","entity_type":"gene"},{"created":"2023-03-24T14:46:25.535420+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMP1 as Green List (high evidence)","entity_name":"BMP1","entity_type":"gene"},{"created":"2023-03-24T14:46:25.523735+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp1 has been classified as Green List (High Evidence).","entity_name":"BMP1","entity_type":"gene"},{"created":"2023-03-24T14:46:09.404670+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2082","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMP1 was added\ngene: BMP1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BMP1 were set to 33818922\nPhenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856\nReview for gene: BMP1 was set to GREEN\nAdded comment: Rare cause of OI. 20 families reported.\r\n\r\nTreatment: bisphosphanates. \nSources: Expert list","entity_name":"BMP1","entity_type":"gene"},{"created":"2023-03-24T14:35:13.675020+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2081","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene are associated with a range of skeletal disorder.\r\n\r\nWide variability in severity, with BOCD manifesting antenatally.\r\n\r\nNo specific treatment.; to: Variants in this gene are associated with a range of skeletal disorders.\r\n\r\nWide variability in severity, with BOCD manifesting antenatally.\r\n\r\nNo specific treatment.","entity_name":"PTH1R","entity_type":"gene"},{"created":"2023-03-24T14:26:07.778287+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL2RB as ready","entity_name":"IL2RB","entity_type":"gene"},{"created":"2023-03-24T14:26:07.769959+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il2rb has been classified as Green List (High Evidence).","entity_name":"IL2RB","entity_type":"gene"},{"created":"2023-03-24T14:26:04.608824+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL2RB were changed from immunodeficiency; autoimmune enteropathy to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495","entity_name":"IL2RB","entity_type":"gene"},{"created":"2023-03-24T14:25:31.650417+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL2RB as Green List (high evidence)","entity_name":"IL2RB","entity_type":"gene"},{"created":"2023-03-24T14:25:31.640176+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il2rb has been classified as Green List (High Evidence).","entity_name":"IL2RB","entity_type":"gene"},{"created":"2023-03-24T14:25:01.893465+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL2RB","entity_type":"gene"},{"created":"2023-03-24T14:22:53.355077+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL21 as ready","entity_name":"IL21","entity_type":"gene"},{"created":"2023-03-24T14:22:53.343508+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il21 has been classified as Amber List (Moderate Evidence).","entity_name":"IL21","entity_type":"gene"},{"created":"2023-03-24T14:22:47.845479+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL21 were changed from immunodeficiency; inflammatory bowel disease to Immunodeficiency, common variable, 11, MIM# 615767","entity_name":"IL21","entity_type":"gene"},{"created":"2023-03-24T14:21:55.466506+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL21 as Amber List (moderate evidence)","entity_name":"IL21","entity_type":"gene"},{"created":"2023-03-24T14:21:55.459238+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il21 has been classified as Amber List (Moderate Evidence).","entity_name":"IL21","entity_type":"gene"},{"created":"2023-03-24T14:21:26.451265+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 11, MIM#  615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL21","entity_type":"gene"},{"created":"2023-03-24T14:20:23.535184+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DKC1 as ready","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-03-24T14:20:23.526881+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dkc1 has been classified as Amber List (Moderate Evidence).","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-03-24T14:20:20.595284+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM# 305000","entity_name":"DKC1","entity_type":"gene"},{"created":"2023-03-24T14:19:41.011683+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DKC1 as Amber List (moderate evidence)","entity_name":"DKC1","entity_type":"gene"}]}