{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1150","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1148","results":[{"created":"2021-11-01T14:52:12.997397+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCSK1 as ready","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:52:12.987068+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcsk1 has been classified as Green List (High Evidence).","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:52:11.463559+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362 to Obesity with impaired prohormone processing MIM#600955","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:52:03.066283+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCSK1 were set to ","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T14:51:45.487782+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NTRK2 as ready","entity_name":"NTRK2","entity_type":"gene"},{"created":"2021-11-01T14:51:45.477866+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ntrk2 has been classified as Green List (High Evidence).","entity_name":"NTRK2","entity_type":"gene"},{"created":"2021-11-01T14:51:22.404058+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MYT1L.","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-11-01T14:50:52.384229+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYT1L as ready","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-11-01T14:50:52.372109+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myt1l has been classified as Green List (High Evidence).","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-11-01T14:50:43.874772+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, OMIM:616521 to Mental retardation, autosomal dominant 39, MIM# 616521; Obesity","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-11-01T14:50:06.837279+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-11-01T14:49:46.238468+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-11-01T14:49:46.228418+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-11-01T14:49:44.338316+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, OMIM:615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-11-01T14:49:36.142619+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKS1 were set to ","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-11-01T14:49:18.855118+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKKS as ready","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-11-01T14:49:18.832091+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkks has been classified as Green List (High Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-11-01T14:47:07.878376+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKKS were set to ","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-11-01T14:46:39.949534+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MC4R as ready","entity_name":"MC4R","entity_type":"gene"},{"created":"2021-11-01T14:46:39.938164+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mc4r has been classified as Green List (High Evidence).","entity_name":"MC4R","entity_type":"gene"},{"created":"2021-11-01T14:46:38.142373+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MC4R were changed from Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306 to Obesity (BMIQ20) MIM#618406","entity_name":"MC4R","entity_type":"gene"},{"created":"2021-11-01T14:46:23.814590+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MC4R were set to ","entity_name":"MC4R","entity_type":"gene"},{"created":"2021-11-01T14:45:57.171906+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEPR as ready","entity_name":"LEPR","entity_type":"gene"},{"created":"2021-11-01T14:45:57.152226+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lepr has been classified as Green List (High Evidence).","entity_name":"LEPR","entity_type":"gene"},{"created":"2021-11-01T14:45:54.588742+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581","entity_name":"LEPR","entity_type":"gene"},{"created":"2021-11-01T14:45:33.454707+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEPR","entity_type":"gene"},{"created":"2021-11-01T14:44:06.779512+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEP as ready","entity_name":"LEP","entity_type":"gene"},{"created":"2021-11-01T14:44:06.768768+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lep has been classified as Green List (High Evidence).","entity_name":"LEP","entity_type":"gene"},{"created":"2021-11-01T14:44:04.120913+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEP were set to ","entity_name":"LEP","entity_type":"gene"},{"created":"2021-11-01T14:43:52.423696+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9202122, 12393845, 15472169, 25551525, 7984236; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM# 614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LEP","entity_type":"gene"},{"created":"2021-11-01T14:41:23.045483+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2021-11-01T14:41:23.035815+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2021-11-01T14:41:21.202139+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233 to Pseudohypoparathyroidism Ia, MIM# 103580; Pseudohypoparathyroidism Ic, MIM# 612462; Pseudopseudohypoparathyroidism, MIM# 612463","entity_name":"GNAS","entity_type":"gene"},{"created":"2021-11-01T14:41:03.042402+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580, Pseudohypoparathyroidism Ic, MIM# 612462, Pseudopseudohypoparathyroidism, MIM# 612463; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","entity_name":"GNAS","entity_type":"gene"},{"created":"2021-11-01T14:35:17.684228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC4A3 as ready","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-11-01T14:35:17.669490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc4a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-11-01T14:35:07.286626+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9556","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC4A3 as Amber List (moderate evidence)","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-11-01T14:35:07.277148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc4a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-11-01T14:32:15.898558+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops foetalis to Non-immune hydrops fetalis","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:31:44.609086+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EHBP1L1 as ready","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:31:44.598420+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:30:28.210308+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EHBP1L1 as Amber List (moderate evidence)","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:30:28.199614+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:29:52.228972+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9555","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EHBP1L1 as ready","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:29:52.218176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:29:43.324730+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9555","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EHBP1L1 as Amber List (moderate evidence)","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:29:43.314008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:28:58.307138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9554","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:DIP2B from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:28:33.143982+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9553","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CNBP from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:27:59.342314+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9552","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:BEAN1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:27:30.087139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9551","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ATXN7 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:27:03.769462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9550","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ATXN3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:26:33.516001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9549","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ATXN2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:26:07.150770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9548","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ATXN10 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:24:11.017700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9547","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ATXN1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:23:43.126651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9546","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ATP13A2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:23:33.536326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9545","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ACTC1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:22:01.863102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9544","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:BGN from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T14:20:58.750686+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BGN as ready","entity_name":"BGN","entity_type":"gene"},{"created":"2021-11-01T14:20:58.740640+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bgn has been classified as Green List (High Evidence).","entity_name":"BGN","entity_type":"gene"},{"created":"2021-11-01T14:20:53.846519+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BGN as Green List (high evidence)","entity_name":"BGN","entity_type":"gene"},{"created":"2021-11-01T14:20:53.836158+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bgn has been classified as Green List (High Evidence).","entity_name":"BGN","entity_type":"gene"},{"created":"2021-11-01T14:12:42.819311+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.206","user_name":"Krithika Murali","item_type":"entity","text":"gene: EHBP1L1 was added\ngene: EHBP1L1 was added to Hydrops fetalis. Sources: Expert list,Literature\nMode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHBP1L1 were set to 34645488; 26833786\nPhenotypes for gene: EHBP1L1 were set to Non-immune hydrops foetalis\nReview for gene: EHBP1L1 was set to AMBER\nAdded comment: Biallelic EHBP1L1 variants reported in 2 consanguineous families from Saudi Arabia with non-immune hydrops foetalis resulting in recurrent foetal loss.  Supportive mouse models also previously reported. \nSources: Expert list, Literature","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T14:07:02.873821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9543","user_name":"Krithika Murali","item_type":"entity","text":"gene: EHBP1L1 was added\ngene: EHBP1L1 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EHBP1L1 were set to 34645488; 26833786\nPhenotypes for gene: EHBP1L1 were set to Non-immune hydrops fetalis\nReview for gene: EHBP1L1 was set to AMBER\nAdded comment: No OMIM gene disease association.\r\n\r\nBiallelic EHBP1L1 variants identified in 2 consanguineous families from Saudi Arabia with non-immune hydrops fetalis resulting in recurrent fetal loss.  Supportive mouse models for this phenotype also reported. \nSources: Expert list, Literature","entity_name":"EHBP1L1","entity_type":"gene"},{"created":"2021-11-01T13:47:00.855166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9543","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:COL3A1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T13:45:59.522687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9542","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:BRCA2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T13:45:29.120814+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9541","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CACNA1C from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T13:43:03.700804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9540","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CDH1 from the panel","entity_name":null,"entity_type":null},{"created":"2021-11-01T13:41:12.931287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9539","user_name":"Krithika Murali","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: COL3A1 was set to Other\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type\t- MIM#130050; Polymicrogyria with or without vascular-type EDS - #618343\nReview for gene: COL3A1 was set to GREEN\nAdded comment: ClinGen validated gene-disease relationship with autosomal dominant vascular EDS\r\n\r\nAlso well-established phenotype with polymicrogyria with biallelic variants in COL3A1\r\n\r\n\r\nAD - Ehlers Danlos vascular type\r\nAR - Polymicrogyria with or without vascular type EDS \nSources: Expert list, Literature","entity_name":"COL3A1","entity_type":"gene"},{"created":"2021-11-01T13:34:41.372160+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2021-11-01T13:34:13.469010+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNPNAT1: Changed phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2021-11-01T13:33:56.355842+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2021-11-01T13:33:23.508967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9538","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNPNAT1","entity_type":"gene"},{"created":"2021-11-01T13:32:08.561291+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD), autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2021-11-01T13:31:47.307598+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9538","user_name":"Krithika Murali","item_type":"entity","text":"gene: CDH1 was added\ngene: CDH1 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1- MIM#119580; Cleft lip and palate\nReview for gene: CDH1 was set to GREEN\nAdded comment: Well-established gene-disease association with blepharocheilodontic syndrome (BDC) and orofacial clefting.  \r\n\r\nGene also associated with cancer predisposition - diffuse gastric cancer (juvenile onset reported) and lobular breast cancer. \nSources: Expert list, Literature","entity_name":"CDH1","entity_type":"gene"},{"created":"2021-11-01T13:31:30.721286+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1370","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD) to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2021-11-01T13:30:58.071976+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIK2","entity_type":"gene"},{"created":"2021-11-01T13:30:36.375755+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9538","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Nonsyndromic neurodevelopmental disorder, autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580","entity_name":"GRIK2","entity_type":"gene"},{"created":"2021-11-01T13:30:09.934071+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIK2","entity_type":"gene"},{"created":"2021-11-01T13:26:17.082695+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Krithika Murali","item_type":"entity","text":"gene: CACNA1C was added\ngene: CACNA1C was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1C were set to Timothy syndrome - MIM# 601005; Neurodevelopmental abnormalities and epilepsy, no OMIM#; Long QT syndrome 8- MIM#618447\nReview for gene: CACNA1C was set to GREEN\nAdded comment: Well-established gene-disease association with Timothy Syndrome \r\n\r\nRodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome. \nSources: Expert list, Literature","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-11-01T12:26:51.230388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Krithika Murali","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1\t-  MIM# 605724\nReview for gene: BRCA2 was set to GREEN\nAdded comment: Well-established gene disease association \nSources: Expert list, Literature","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-11-01T12:15:52.641887+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.129","user_name":"Krithika Murali","item_type":"entity","text":"gene: BGN was added\ngene: BGN was added to Skeletal dysplasia. Sources: Expert list,Literature\nMode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BGN were set to 27236923\nPhenotypes for gene: BGN were set to Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106\nReview for gene: BGN was set to GREEN\nAdded comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) \nSources: Expert list, Literature","entity_name":"BGN","entity_type":"gene"},{"created":"2021-11-01T12:13:11.324061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Krithika Murali","item_type":"entity","text":"gene: BGN was added\ngene: BGN was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: BGN was set to Other\nPublications for gene: BGN were set to 27236923; 27632686\nPhenotypes for gene: BGN were set to Meester-Loeys syndrome - #300989; Spondyloepimetaphyseal dysplasia, X-linked - #300106\nReview for gene: BGN was set to GREEN\nAdded comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) and Meester-Loeys syndrome (connective tissue disorder with phenotypic features including aortic dissection, aortic aneurysym, dysmorphism, joint hypermobility and mild skeletal dysplasia - with juvenile-onset reported in males)\r\n\r\nSEMD - X-linked recessive inheritance\r\nMeester-Loeys syndrome - hemizygous males, monoallelic mutations may cause disease in females (may be less severe, later onset than males) \nSources: Expert list, Literature","entity_name":"BGN","entity_type":"gene"},{"created":"2021-11-01T11:55:55.960418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Krithika Murali","item_type":"entity","text":"gene: ATP13A2 was added\ngene: ATP13A2 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP13A2 were set to 1694263\nPhenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome - MIM#606693\nReview for gene: ATP13A2 was set to GREEN\nAdded comment: Well-established gene-disease association with Kufor-Rakeb syndrome, a form of autosomal recessive hereditary parkinsonism and dementia showing juvenile onset, as well as neuronal ceroid lipofucinosis (NCL) features in some families.  Also associated with adult-onset hereditary spastic paraparesis. \nSources: Expert list, Literature","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2021-11-01T11:53:53.615412+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 12646665, 34238466, 32805220; Phenotypes: Obesity (BMIQ20) MIM#618406; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"MC4R","entity_type":"gene"},{"created":"2021-11-01T11:40:23.808636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Krithika Murali","item_type":"entity","text":"gene: ACTC1 was added\ngene: ACTC1 was added to Mendeliome. Sources: Expert list,Literature\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTC1 were set to 26061005; 17947298; 31430208; 18403758; 30384889\nPhenotypes for gene: ACTC1 were set to Atrial septal defect 5, MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098\nReview for gene: ACTC1 was set to GREEN\nAdded comment: Four families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies, including paediatric-onset dilated and hypertrophic cardiomyopathy. \nSources: Expert list, Literature","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-11-01T11:38:46.689151+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.206","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-11-01T11:24:37.667033+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 33622623; Phenotypes: Intellectual disability and obesity (MIM#616521); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"MYT1L","entity_type":"gene"},{"created":"2021-11-01T11:12:08.525561+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15494731, 27884935, 29100083; Phenotypes: Obesity, hyperphagia, and developmental delay MIM#613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"NTRK2","entity_type":"gene"},{"created":"2021-11-01T10:33:23.876400+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PCSK1","entity_type":"gene"},{"created":"2021-11-01T10:16:52.640685+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32399860; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-11-01T10:01:59.813755+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMC","entity_type":"gene"},{"created":"2021-11-01T09:52:22.094449+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434169, 30926952, 23778136, 23778139; Phenotypes: congenital obesity, Prader-Willi-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SIM1","entity_type":"gene"},{"created":"2021-11-01T09:22:37.329815+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30473963; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13B","entity_type":"gene"},{"created":"2021-11-01T08:50:37.466433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP19 as ready","entity_name":"CEP19","entity_type":"gene"},{"created":"2021-11-01T08:50:37.454615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep19 has been classified as Amber List (Moderate Evidence).","entity_name":"CEP19","entity_type":"gene"},{"created":"2021-11-01T08:50:16.924712+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9537","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure MIM#615703 to Morbid obesity and spermatogenic failure MIM#615703; Bardet-Biedl syndorme","entity_name":"CEP19","entity_type":"gene"},{"created":"2021-11-01T08:49:46.550155+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9536","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP19: Changed rating: AMBER","entity_name":"CEP19","entity_type":"gene"},{"created":"2021-11-01T08:49:32.198786+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP19 as ready","entity_name":"CEP19","entity_type":"gene"},{"created":"2021-11-01T08:49:32.188461+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep19 has been classified as Amber List (Moderate Evidence).","entity_name":"CEP19","entity_type":"gene"}]}