{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1103","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1101","results":[{"created":"2021-12-03T20:51:25.632676+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4335","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846","entity_name":"RAP1GDS1","entity_type":"gene"},{"created":"2021-12-03T20:47:02.805514+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF5A as Green List (high evidence)","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-12-03T20:47:02.793671+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.920","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif5a has been classified as Green List (High Evidence).","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-12-03T20:46:51.160591+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.919","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF5A was added\ngene: EIF5A was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF5A were set to 33547280\nPhenotypes for gene: EIF5A were set to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism\nReview for gene: EIF5A was set to GREEN\nAdded comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. \nSources: Expert Review","entity_name":"EIF5A","entity_type":"gene"},{"created":"2021-12-03T20:44:54.057649+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXTL3 as ready","entity_name":"EXTL3","entity_type":"gene"},{"created":"2021-12-03T20:44:54.047267+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2021-12-03T20:43:14.791032+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXTL3 as Green List (high evidence)","entity_name":"EXTL3","entity_type":"gene"},{"created":"2021-12-03T20:43:14.780173+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: extl3 has been classified as Green List (High Evidence).","entity_name":"EXTL3","entity_type":"gene"},{"created":"2021-12-03T20:43:00.683816+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.917","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXTL3 was added\ngene: EXTL3 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to 28132690; 28148688\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425\nReview for gene: EXTL3 was set to GREEN\nAdded comment: 12 individuals from 7 families reported. \nSources: Expert Review","entity_name":"EXTL3","entity_type":"gene"},{"created":"2021-12-03T20:38:06.585106+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10058","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRX1 as ready","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:38:06.575049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrx1 has been classified as Green List (High Evidence).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:37:57.554292+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10058","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRX1 were changed from  to Agnathia-otocephaly complex, MIM# 202650","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:37:37.408505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10057","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRRX1 were set to ","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:37:09.658036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10056","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRRX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:36:50.200861+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10055","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294718, 22211708, 22674740, 23444262; Phenotypes: Agnathia-otocephaly complex, MIM# 202650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:36:13.530247+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRX1 as ready","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:36:13.514562+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrx1 has been classified as Green List (High Evidence).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:35:56.999569+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRRX1 as Green List (high evidence)","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:35:56.989195+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrx1 has been classified as Green List (High Evidence).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:35:42.690381+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.915","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRRX1 was added\ngene: PRRX1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262\nPhenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex, MIM# 202650\nReview for gene: PRRX1 was set to GREEN\nAdded comment: Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.\r\n\r\nThree unrelated individuals reported with heterozygous LoF variants, one family with bi-allelic variants. \nSources: Expert Review","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:35:12.909694+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRRX1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRX1","entity_type":"gene"},{"created":"2021-12-03T20:33:40.060076+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.914","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A9 as ready","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:33:40.048631+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.914","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a9 has been classified as Green List (High Evidence).","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:33:35.749042+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.914","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine 617301; Arthrogryposis","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:33:20.839521+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.913","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A9 were set to ","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:32:43.846457+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.912","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A9 as Green List (high evidence)","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:32:43.837315+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.912","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a9 has been classified as Green List (High Evidence).","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:32:29.664388+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.911","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:32:26.375254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.911","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SLC6A9: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family)","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:32:13.196633+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.911","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC6A9: Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555; Changed phenotypes: Glycine encephalopathy with normal serum glycine 617301, Arthrogryposis","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:31:32.079825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCE1 as ready","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:31:32.069317+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarce1 has been classified as Green List (High Evidence).","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:31:27.721515+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.911","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, MIM# 616938","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:31:23.847823+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC6A9 were set to 27773429; 27481395","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:30:45.692850+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A9 as Green List (high evidence)","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:30:45.682536+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a9 has been classified as Green List (High Evidence).","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:30:20.904996+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC6A9: Added comment: Dempsey et al 2020 (PMID: 31875334) report a fetus with persistently raised NT, hyperextended legs, unilateral talipes. Flexed arms. Small stomach. Consanguineous family. Other reports of SLC6A9 causing arthrogryposis multiplex congenita (presenting prenatally) include: Kurolap et al 2016, PMID: 27773429 (2 families); Hauf et al 2020, PMID: 32712301 (1 family); Mademont-Soler et al 2021, PMID: 33269555 (1 family); Changed rating: GREEN; Changed publications: 27773429, 27481395, 31875334, 32712301, 33269555","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2021-12-03T20:28:31.972703+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.910","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCE1 were set to ","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:28:12.243771+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.909","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCE1 as Green List (high evidence)","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:28:12.234803+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.909","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarce1 has been classified as Green List (High Evidence).","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:28:00.447228+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.908","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCE1: Changed publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:27:13.395473+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.908","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCE1","entity_type":"gene"},{"created":"2021-12-03T20:23:53.049309+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP15 as ready","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:23:53.039359+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp15 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:23:49.014751+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MMP15 as Amber List (moderate evidence)","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:23:49.001592+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp15 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:23:24.433323+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMP15 was added\ngene: MMP15 was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP15 were set to 33875846\nPhenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease\nReview for gene: MMP15 was set to AMBER\nAdded comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease. \nSources: Literature","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:21:53.896082+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP15 as ready","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:21:53.886249+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp15 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:21:33.920967+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MMP15 as Amber List (moderate evidence)","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:21:33.911118+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp15 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:21:07.558914+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMP15 was added\ngene: MMP15 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP15 were set to 33875846\nPhenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease\nReview for gene: MMP15 was set to AMBER\nAdded comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease. \nSources: Literature","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:20:33.503328+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10055","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP15 as ready","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:20:33.489377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10055","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp15 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:20:11.321753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10055","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MMP15 as Amber List (moderate evidence)","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:20:11.312719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10055","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp15 has been classified as Amber List (Moderate Evidence).","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:19:21.328898+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10054","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMP15 was added\ngene: MMP15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMP15 were set to 33875846\nPhenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease\nReview for gene: MMP15 was set to AMBER\nAdded comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease. \nSources: Literature","entity_name":"MMP15","entity_type":"gene"},{"created":"2021-12-03T20:10:00.935076+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPA1 as ready","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:10:00.924141+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:09:53.683053+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPA1 as Green List (high evidence)","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:09:53.671883+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:09:27.834706+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPA1 was added\ngene: RPA1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review\nMode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPA1 were set to 34767620\nPhenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres\nMode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RPA1 was set to GREEN\nAdded comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported. \nSources: Expert Review","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:08:52.895513+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10053","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPA1 as ready","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:08:52.886241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10053","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:08:44.287122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10053","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPA1 as Green List (high evidence)","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:08:44.277742+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10053","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:07:51.113435+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10052","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPA1 was added\ngene: RPA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPA1 were set to 34767620\nPhenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres\nMode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RPA1 was set to GREEN\nAdded comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported. \nSources: Literature","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:07:35.848309+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPA1 as ready","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:07:35.835545+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:07:31.307960+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPA1 as Green List (high evidence)","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:07:31.298842+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpa1 has been classified as Green List (High Evidence).","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:06:11.434069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10051","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AXIN2 as ready","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T20:06:11.423541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: axin2 has been classified as Green List (High Evidence).","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T20:06:02.472452+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10051","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AXIN2 were changed from  to Oligodontia-colorectal cancer syndrome, MIM# 608615","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T20:05:58.085348+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPA1 was added\ngene: RPA1 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPA1 were set to 34767620\nPhenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres\nMode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RPA1 was set to GREEN\nAdded comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported. \nSources: Literature","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-03T20:00:23.490450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10050","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AXIN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T20:00:06.591921+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10049","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AXIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042511, 21626677, 21416598, 34637023; Phenotypes: Oligodontia-colorectal cancer syndrome, MIM# 608615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:59:23.017753+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AXIN2 as ready","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:59:23.006117+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: axin2 has been classified as Amber List (Moderate Evidence).","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:59:17.253338+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AXIN2 as Amber List (moderate evidence)","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:59:17.241273+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: axin2 has been classified as Amber List (Moderate Evidence).","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:59:09.194955+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AXIN2 was added\ngene: AXIN2 was added to Ectodermal Dysplasia. Sources: Expert Review\nMode of inheritance for gene: AXIN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AXIN2 were set to 15042511; 21626677; 21416598; 34637023\nPhenotypes for gene: AXIN2 were set to Oligodontia-colorectal cancer syndrome, MIM# 608615\nReview for gene: AXIN2 was set to AMBER\nAdded comment: Variants are associated with tooth agenesis (PMID: 15042511; 21626677; 30671715; 32807118), often additionally with colon polyps and colorectal cancer. Two families have been identified with concurrent ectodermal dysplasia including sparse or brittle hair and/or eyebrows and dry skin (PMID: 21416598; 34637023). \nSources: Expert Review","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:58:05.223632+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AXIN2 as ready","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:58:05.211995+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: axin2 has been classified as Green List (High Evidence).","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:57:38.375507+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM218 as ready","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-12-03T19:57:38.365318+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-12-03T19:57:30.074868+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AXIN2 were changed from  to Oligodontia-colorectal cancer syndrome, MIM# 608615","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:57:00.932144+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AXIN2 were set to ","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:56:31.643184+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AXIN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:56:02.644620+11:00","panel_name":"Oligodontia","panel_id":148,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AXIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042511, 21626677, 21416598; Phenotypes: Oligodontia-colorectal cancer syndrome, MIM# 608615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AXIN2","entity_type":"gene"},{"created":"2021-12-03T19:54:28.742543+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM218 as Green List (high evidence)","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-12-03T19:54:28.732216+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem218 has been classified as Green List (High Evidence).","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-12-03T19:53:35.353178+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4334","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM218 was added\ngene: TMEM218 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to 33791682; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Expert Review","entity_name":"TMEM218","entity_type":"gene"},{"created":"2021-12-03T19:49:33.665807+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.908","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIDINS220 as ready","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-12-03T19:49:33.656468+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Green List (High Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-12-03T19:49:15.105097+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.908","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-12-03T19:48:50.213353+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.907","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIDINS220 as Green List (high evidence)","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-12-03T19:48:50.202954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.907","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Green List (High Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-12-03T19:12:55.192412+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIDINS220 as ready","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-12-03T19:12:55.181357+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Green List (High Evidence).","entity_name":"KIDINS220","entity_type":"gene"}]}