{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1129","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1127","results":[{"created":"2021-11-15T16:53:17.638714+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.138","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: IFITM5: Changed mode of pathogenicity: Other","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:53:01.096113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9735","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:52:29.976540+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.476","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: IL11RA were changed from Crouzon-like craniosynostosis; Autosomal Recessive Craniosynostosis; Craniosynostosis and dental anomalies, 614188 to Craniosynostosis and dental anomalies, MIM# 614188","entity_name":"IL11RA","entity_type":"gene"},{"created":"2021-11-15T16:52:24.174686+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IHH as ready","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-15T16:52:24.164396+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ihh has been classified as Green List (High Evidence).","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-15T16:52:19.697281+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IHH were changed from ACROCAPITOFEMORAL DYSPLASIA; BRACHYDACTYLY, TYPE A1 to Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-15T16:52:19.142163+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.475","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: IL11RA were set to ","entity_name":"IL11RA","entity_type":"gene"},{"created":"2021-11-15T16:52:06.657885+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IHH were set to ","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-15T16:51:55.476657+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-15T16:51:17.987293+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.138","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: IFITM5 were set to ","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:51:15.520554+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAFB as ready","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:51:15.504053+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafb has been classified as Amber List (Moderate Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:51:08.389461+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to Multicentric carpotarsal osteolysis syndrome (MIM#166300)","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:51:07.471631+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.137","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: IFITM5 as ready","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:51:07.460153+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.137","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ifitm5 has been classified as Green List (High Evidence).","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:50:41.055518+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.137","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: IFITM5 were changed from Osteogenesis imperfecta, type V 610967 to Osteogenesis imperfecta, type V MIM#610967","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:50:27.520656+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAFB were set to ","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:50:14.568196+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAFB as Amber List (moderate evidence)","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:50:14.557537+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mafb has been classified as Amber List (Moderate Evidence).","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T16:50:10.331711+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.136","user_name":"Seb Lunke","item_type":"entity","text":"Tag 5'UTR tag was added to gene: IFITM5.","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:49:57.485970+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.136","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:49:57.451799+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.136","user_name":"Seb Lunke","item_type":"entity","text":"Mode of pathogenicity for gene: IFITM5 was changed from  to Other","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T16:48:44.439940+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGHMBP2 as ready","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-11-15T16:48:44.430577+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ighmbp2 has been classified as Green List (High Evidence).","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-11-15T16:48:40.608423+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI MIM#604320 to Neuronopathy, distal hereditary motor, type VI MIM#604320; SMA with respiratory distress, SMARD1","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-11-15T16:48:13.273897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.468","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to Neuronopathy, distal hereditary motor, type VI MIM#604320","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-11-15T16:47:32.178346+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGHMBP2 were set to ","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-11-15T16:46:55.919318+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFIH1 as ready","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:46:55.908657+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Green List (High Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:46:51.353639+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFIH1 were changed from SINGLETON-MERTEN SYNDROME; Singleton-Merten syndrome 1, 182250; Aicardi-Goutieres syndrome 7, 615846; AICARDI-GOUTIERES SYNDROME 7 to Aicardi-Goutieres syndrome 7 MIM#615846; Singleton-Merten syndrome 1, MIM#\t182250","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:46:10.232987+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFIH1 were set to 25542954","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:45:55.793100+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: IFIH1 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:45:45.939763+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:45:32.570168+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:44:23.697419+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFIH1 as ready","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:44:23.687034+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Green List (High Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:44:21.393322+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFIH1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7 to Aicardi-Goutieres syndrome 7 MIM#615846","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:44:07.890850+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.462","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: IDUA as ready","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-11-15T16:44:07.880526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.462","user_name":"Seb Lunke","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-11-15T16:44:04.902762+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: IFIH1 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T16:44:00.937979+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.462","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: IDUA were changed from MUCOPOLYSACCHARIDOSIS TYPE 1H; MUCOPOLYSACCHARIDOSIS TYPE 1H/S; MUCOPOLYSACCHARIDOSIS TYPE 1S to Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070); Mucopolysaccharidosis type 1, MONDO:0001586","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-11-15T16:43:42.179023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.461","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: IDUA were set to ","entity_name":"IDUA","entity_type":"gene"},{"created":"2021-11-15T16:43:14.090075+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IDS as ready","entity_name":"IDS","entity_type":"gene"},{"created":"2021-11-15T16:43:14.079566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ids has been classified as Green List (High Evidence).","entity_name":"IDS","entity_type":"gene"},{"created":"2021-11-15T16:43:09.923599+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IDS were changed from MUCOPOLYSACCHARIDOSIS TYPE 2 to Mucopolysaccharidosis II MIM#309900; MONDO:0010674; Hunter syndrome","entity_name":"IDS","entity_type":"gene"},{"created":"2021-11-15T16:42:56.269135+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IDS were set to ","entity_name":"IDS","entity_type":"gene"},{"created":"2021-11-15T16:42:40.598716+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II MIM#309900, MONDO:0010674, Hunter syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"IDS","entity_type":"gene"},{"created":"2021-11-15T16:42:17.362259+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.458","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: MAF as ready","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-15T16:42:17.345361+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.458","user_name":"Seb Lunke","item_type":"entity","text":"Gene: maf has been classified as Green List (High Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-15T16:42:12.670515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.458","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: MAF were changed from CATARACT CONGENITAL CERULEAN TYPE 4; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED; CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to Ayme-Gripp syndrome (MIM#601088)","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-15T16:41:59.136833+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.457","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: MAF were set to ","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-15T16:41:47.146199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.456","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: MAF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2021-11-15T16:40:32.350166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9734","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASIP as ready","entity_name":"ASIP","entity_type":"gene"},{"created":"2021-11-15T16:40:32.341003+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9734","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asip has been classified as Red List (Low Evidence).","entity_name":"ASIP","entity_type":"gene"},{"created":"2021-11-15T16:40:19.081518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9734","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASIP as Red List (low evidence)","entity_name":"ASIP","entity_type":"gene"},{"created":"2021-11-15T16:40:19.071430+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9734","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asip has been classified as Red List (Low Evidence).","entity_name":"ASIP","entity_type":"gene"},{"created":"2021-11-15T16:39:37.953135+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LTBP4 as ready","entity_name":"LTBP4","entity_type":"gene"},{"created":"2021-11-15T16:39:37.939946+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp4 has been classified as Green List (High Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2021-11-15T16:39:33.301826+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC 613177 to Cutis laxa, autosomal recessive, type IC, MIM# 613177","entity_name":"LTBP4","entity_type":"gene"},{"created":"2021-11-15T16:39:20.026265+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LTBP4 were set to ","entity_name":"LTBP4","entity_type":"gene"},{"created":"2021-11-15T16:38:33.927266+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LTBP3 as ready","entity_name":"LTBP3","entity_type":"gene"},{"created":"2021-11-15T16:38:33.916867+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp3 has been classified as Green List (High Evidence).","entity_name":"LTBP3","entity_type":"gene"},{"created":"2021-11-15T16:38:29.234280+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LTBP3 were changed from PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA to Dental anomalies and short stature, MIM# 601216; Geleophysic dysplasia 3, MIM# 617809; Thoracic aneurysm","entity_name":"LTBP3","entity_type":"gene"},{"created":"2021-11-15T16:38:17.959021+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LTBP3 were set to ","entity_name":"LTBP3","entity_type":"gene"},{"created":"2021-11-15T16:38:06.644504+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.451","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LTBP3","entity_type":"gene"},{"created":"2021-11-15T16:37:24.011878+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP4 as ready","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-15T16:37:23.994529+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp4 has been classified as Green List (High Evidence).","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-15T16:37:19.692598+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP4 were changed from CENANI-LENZ SYNDACTYLY SYNDROME to Cenani-Lenz syndactyly syndrome (MIM#212780)","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-15T16:37:07.033245+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP4 were set to ","entity_name":"LRP4","entity_type":"gene"},{"created":"2021-11-15T16:09:38.457410+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ITGB4","entity_type":"gene"},{"created":"2021-11-15T15:59:22.665613+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: ITGA6: Changed rating: GREEN","entity_name":"ITGA6","entity_type":"gene"},{"created":"2021-11-15T15:59:15.343627+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: At least 4 probands reported\r\n\r\nPyelonephrosis, Urethrovesical occlusion and Stenosis at the ureterovesical junctions are some other features in this condition; to: At least 4 probands reported\r\n\r\nEpidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder).","entity_name":"ITGA6","entity_type":"gene"},{"created":"2021-11-15T15:57:20.328898+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201; Phenotypes: Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ITGA6","entity_type":"gene"},{"created":"2021-11-15T15:30:11.429337+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome  MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"IRF6","entity_type":"gene"},{"created":"2021-11-15T15:01:56.092881+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: 27158779, 29451301, 20067783, 34623732; Phenotypes: Orofaciodigital syndrome XVII MIM#617926, Short-rib thoracic dysplasia 20 with polydactyly MIM#617925; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"INTU","entity_type":"gene"},{"created":"2021-11-15T14:46:26.056687+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"INPPL1","entity_type":"gene"},{"created":"2021-11-15T14:35:18.217967+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"IMPAD1","entity_type":"gene"},{"created":"2021-11-15T14:24:13.745552+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MATN3","entity_type":"gene"},{"created":"2021-11-15T14:15:12.822810+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IL1RAPL1: Rating: RED; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"IL1RAPL1","entity_type":"gene"},{"created":"2021-11-15T13:51:31.059506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MAP3K1: Rating: RED; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAP3K1","entity_type":"gene"},{"created":"2021-11-15T13:32:36.380085+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21741611, 32277509, 30811827, 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM# 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"IL11RA","entity_type":"gene"},{"created":"2021-11-15T13:20:52.989886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9733","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T13:16:04.090335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"IHH","entity_type":"gene"},{"created":"2021-11-15T13:15:14.651006+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAFB","entity_type":"gene"},{"created":"2021-11-15T12:50:55.854448+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14681881, 23560007, 30863264; Phenotypes: Neuronopathy, distal hereditary motor, type VI MIM#604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2021-11-15T12:21:56.782089+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T12:21:54.507285+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9733","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T12:21:45.196412+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.135","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"IFITM5","entity_type":"gene"},{"created":"2021-11-15T12:15:25.756386+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.135","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846 28605144 26284909 28475458; Phenotypes: SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: None; Current diagnostic: yes","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T12:14:46.798731+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.448","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846, 28605144, 26284909, 28475458; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846, SINGLETON-MERTEN SYNDROME 1 (MIM# 182250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-11-15T12:05:14.278971+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHKB as ready","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:05:14.268360+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chkb has been classified as Green List (High Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:05:04.229734+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHKB were changed from  to Muscular dystrophy, congenital, megaconial type, MIM# 602541","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:04:36.511526+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHKB were set to ","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:04:28.372786+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9733","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHKB as ready","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:04:28.362179+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9733","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chkb has been classified as Green List (High Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:04:20.384352+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9733","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHKB were changed from  to Muscular dystrophy, congenital, megaconial type, MIM# 602541","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:04:01.342522+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:03:34.708678+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4275","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHKB","entity_type":"gene"},{"created":"2021-11-15T12:03:30.449978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9732","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHKB were set to ","entity_name":"CHKB","entity_type":"gene"}]}