{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1785","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1783","results":[{"created":"2020-05-29T12:17:27.076524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2923","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt1b has been classified as Red List (Low Evidence).","entity_name":"CPT1B","entity_type":"gene"},{"created":"2020-05-29T12:17:07.966277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2923","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CPT1B were set to ","entity_name":"CPT1B","entity_type":"gene"},{"created":"2020-05-29T12:16:03.253559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2922","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CPT1B was changed from Unknown to Unknown","entity_name":"CPT1B","entity_type":"gene"},{"created":"2020-05-29T11:38:42.510517+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYH3 was added\ngene: MYH3 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH3 were set to 28779239\nPhenotypes for gene: MYH3 were set to paresthesia; rhabdomyolysis\nReview for gene: MYH3 was set to RED\nAdded comment: Single case with rhabdomyolysis reported. \nSources: Expert list","entity_name":"MYH3","entity_type":"gene"},{"created":"2020-05-29T10:48:33.249226+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TWNK as Green List (high evidence)","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-05-29T10:48:33.237841+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: twnk has been classified as Green List (High Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-05-29T10:48:26.069086+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TWNK were set to 20880070\nPhenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286\nReview for gene: TWNK was set to GREEN\nAdded comment: Exercise intolerance reported as a presenting feature of the condition in at least 5 cases. \nSources: Expert list","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-05-29T10:41:59.632985+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AHCY was added\ngene: AHCY was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHCY were set to 28779239\nPhenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752\nReview for gene: AHCY was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Expert list","entity_name":"AHCY","entity_type":"gene"},{"created":"2020-05-29T10:36:55.892867+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: COQ8A as ready","entity_name":"COQ8A","entity_type":"gene"},{"created":"2020-05-29T10:36:55.880693+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: coq8a has been classified as Green List (High Evidence).","entity_name":"COQ8A","entity_type":"gene"},{"created":"2020-05-29T10:36:51.604461+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: COQ8A as Green List (high evidence)","entity_name":"COQ8A","entity_type":"gene"},{"created":"2020-05-29T10:36:51.595540+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: coq8a has been classified as Green List (High Evidence).","entity_name":"COQ8A","entity_type":"gene"},{"created":"2020-05-29T10:36:41.813227+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COQ8A was added\ngene: COQ8A was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COQ8A were set to 32337771\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016\nReview for gene: COQ8A was set to GREEN\ngene: COQ8A was marked as current diagnostic\nAdded comment: Exercise intolerance is a presenting feature in 25% of cases (out of 59 total). \nSources: Expert list","entity_name":"COQ8A","entity_type":"gene"},{"created":"2020-05-29T09:50:27.725415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2921","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYF6 as Red List (low evidence)","entity_name":"MYF6","entity_type":"gene"},{"created":"2020-05-29T09:50:27.713041+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2921","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myf6 has been classified as Red List (Low Evidence).","entity_name":"MYF6","entity_type":"gene"},{"created":"2020-05-29T09:50:04.291974+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2920","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MYF6: Rating: RED; Mode of pathogenicity: None; Publications: 11053684; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYF6","entity_type":"gene"},{"created":"2020-05-29T09:38:36.441605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2920","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MTMR14 as Red List (low evidence)","entity_name":"MTMR14","entity_type":"gene"},{"created":"2020-05-29T09:38:36.437484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2920","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: No evidence of Mendelian disease","entity_name":"MTMR14","entity_type":"gene"},{"created":"2020-05-29T09:38:36.416629+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2920","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mtmr14 has been classified as Red List (Low Evidence).","entity_name":"MTMR14","entity_type":"gene"},{"created":"2020-05-29T09:37:48.344020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2919","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MTMR14: Rating: RED; Mode of pathogenicity: None; Publications: 17008356; Phenotypes: {Centronuclear myopathy, autosomal, modifier of} MIM#160150; Mode of inheritance: Unknown","entity_name":"MTMR14","entity_type":"gene"},{"created":"2020-05-28T19:11:08.255945+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GMPPB as ready","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-05-28T19:11:08.247130+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gmppb has been classified as Green List (High Evidence).","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-05-28T19:11:03.614475+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GMPPB as Green List (high evidence)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-05-28T19:11:03.601637+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gmppb has been classified as Green List (High Evidence).","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-05-28T19:10:52.238450+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GMPPB was added\ngene: GMPPB was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GMPPB were set to 28456886; 27874200; 25681410\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14\tMIM#615352; Limb myalgia; exercise intolerance; myoglobinuria\nReview for gene: GMPPB was set to GREEN\nAdded comment: Three unrelated cases reported with rhabdomyolysis. \nSources: Expert list","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-05-28T18:15:17.536565+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNA2 was added\ngene: DNA2 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DNA2 were set to 31636600\nPhenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156\nReview for gene: DNA2 was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Expert list","entity_name":"DNA2","entity_type":"gene"},{"created":"2020-05-28T18:03:55.928019+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:CYP2C8 from the panel","entity_name":null,"entity_type":null},{"created":"2020-05-28T18:03:34.352062+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CYP2C8 as No list","entity_name":"CYP2C8","entity_type":"gene"},{"created":"2020-05-28T18:03:34.342847+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cyp2c8 has been removed from the panel.","entity_name":"CYP2C8","entity_type":"gene"},{"created":"2020-05-28T16:40:44.395991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2919","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CPT1B as Red List (low evidence)","entity_name":"CPT1B","entity_type":"gene"},{"created":"2020-05-28T16:40:44.384786+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2919","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cpt1b has been classified as Red List (Low Evidence).","entity_name":"CPT1B","entity_type":"gene"},{"created":"2020-05-28T16:39:43.126556+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2918","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CPT1B: Rating: RED; Mode of pathogenicity: None; Publications: 18023382; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"CPT1B","entity_type":"gene"},{"created":"2020-05-28T15:28:13.571431+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL4A1 was added\ngene: COL4A1 was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A1 were set to 31540749\nPhenotypes for gene: COL4A1 were set to Recurrent rhabdomyolysis; infections; hypertrophic cardiomyopathy.\nReview for gene: COL4A1 was set to RED\nAdded comment: Single case reported with rhabdomyolysis \nSources: Expert list","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-05-28T14:51:50.015987+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHKB as ready","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-05-28T14:51:50.007204+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chkb has been classified as Red List (Low Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-05-28T14:51:32.311248+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHKB was added\ngene: CHKB was added to Rhabdomyolysis RMH. Sources: Expert list\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKB were set to 26782016\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type\tMIM#602541\nReview for gene: CHKB was set to RED\nAdded comment: Single family reported with rhbdomyolysis \nSources: Expert list","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-05-28T14:19:11.117817+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2918","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260, Miyoshi muscular dystrophy 3 MIM#613319, Muscular dystrophy, limb-girdle, autosomal recessive 12 MIM#611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-28T07:51:48.224596+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC63: Changed rating: RED","entity_name":"SEC63","entity_type":"gene"},{"created":"2020-05-28T07:51:04.115631+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRKCSH as Amber List (moderate evidence)","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:51:04.106764+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkcsh has been classified as Amber List (Moderate Evidence).","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:50:25.952992+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKCSH: Changed rating: AMBER","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:49:52.244847+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG9 as ready","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-05-28T07:49:52.235690+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Amber List (Moderate Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-05-28T07:49:48.498037+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG9 as Amber List (moderate evidence)","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-05-28T07:49:48.484281+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg9 has been classified as Amber List (Moderate Evidence).","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-05-28T07:49:02.419672+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALG9 was added\ngene: ALG9 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: ALG9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 31395617\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#\t608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease\nReview for gene: ALG9 was set to AMBER\nAdded comment: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder. \nSources: Literature","entity_name":"ALG9","entity_type":"gene"},{"created":"2020-05-28T07:32:58.747101+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease relationship, >50 reported families.; to: Well established gene-disease relationship, >50 reported families. Liver cystic disease predominates the clinical presentation, generally a small number of kidney cysts.","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:32:21.409893+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKCSH were changed from Polycystic liver disease 1, MIM# 174050, with or without kidney cysts to Polycystic liver disease 1, MIM# 174050, with or without kidney cysts","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:32:16.935845+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKCSH as ready","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:32:16.924660+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkcsh has been classified as Green List (High Evidence).","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:31:59.968941+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKCSH were changed from  to Polycystic liver disease 1, MIM# 174050, with or without kidney cysts","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:31:35.121466+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKCSH were set to ","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:30:09.978544+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:28:50.079516+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577059; Phenotypes: Polycystic liver disease 1, MIM# 174050, with or without kidney cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKCSH","entity_type":"gene"},{"created":"2020-05-28T07:15:33.856977+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJB11 as ready","entity_name":"DNAJB11","entity_type":"gene"},{"created":"2020-05-28T07:15:33.848052+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb11 has been classified as Green List (High Evidence).","entity_name":"DNAJB11","entity_type":"gene"},{"created":"2020-05-28T07:15:02.873702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2918","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJB11 were changed from  to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061","entity_name":"DNAJB11","entity_type":"gene"},{"created":"2020-05-28T07:14:40.768687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2917","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJB11 were set to ","entity_name":"DNAJB11","entity_type":"gene"},{"created":"2020-05-28T07:14:19.445208+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2916","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJB11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAJB11","entity_type":"gene"},{"created":"2020-05-28T07:13:55.602293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351, 29777155; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAJB11","entity_type":"gene"},{"created":"2020-05-27T18:51:51.542311+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB3GAP1 as ready","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-05-27T18:51:51.530526+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab3gap1 has been classified as Green List (High Evidence).","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-05-27T18:50:13.805281+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP1 were changed from  to Warburg micro syndrome 1, MIM# 600118","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-05-27T18:49:34.081012+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP1 were set to ","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-05-27T18:49:10.279427+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-05-27T18:48:30.503352+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB18 as ready","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-05-27T18:48:30.492022+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab18 has been classified as Green List (High Evidence).","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-05-27T18:48:27.888519+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB18 were changed from  to Warburg micro syndrome 3, MIM# 614222","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-05-27T18:47:53.645745+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB18 were set to ","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-05-27T18:47:28.495040+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-05-27T18:46:44.589629+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTEN as ready","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-27T18:46:44.578163+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pten has been classified as Green List (High Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-27T18:46:41.841712+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTEN were changed from  to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-27T18:46:14.184460+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTEN were set to ","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-27T18:45:45.390865+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-27T18:44:59.050236+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANO5 as ready","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:44:59.040644+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ano5 has been classified as Green List (High Evidence).","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:44:55.171914+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANO5 were set to ","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:44:30.879882+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ANO5 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":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:44:07.192573+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANO5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:43:46.295306+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:43:24.940147+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:43:01.699681+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANO5","entity_type":"gene"},{"created":"2020-05-27T18:41:46.902127+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPR143 as ready","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-05-27T18:41:46.888304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpr143 has been classified as Green List (High Evidence).","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-05-27T18:41:35.248000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2915","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPR143 were changed from  to congenital nystagmus 6, MIM 300814; type I ocular albinism, Nettleship-Falls type, MIM 300500","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-05-27T18:41:13.222452+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2914","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPR143 were set to ","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-05-27T18:40:52.645942+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2913","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GPR143","entity_type":"gene"},{"created":"2020-05-27T18:06:54.574767+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELP1 as ready","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T18:06:54.565163+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elp1 has been classified as Green List (High Evidence).","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T18:06:23.858319+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2912","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELP1 as ready","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T18:06:23.848803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2912","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elp1 has been classified as Green List (High Evidence).","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T18:06:16.001826+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2912","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELP1 were changed from  to Dysautonomia, familial MIM#223900; paediatric medulloblastoma","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T18:05:51.989666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2911","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ELP1 were set to ","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T18:05:32.246376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ELP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ELP1","entity_type":"gene"},{"created":"2020-05-27T16:54:48.361073+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.73","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-05-27T16:50:59.157263+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.73","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23420520; Phenotypes: Warburg micro syndrome 1 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-05-27T16:45:25.046038+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.73","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21473985, 23420520; Phenotypes: Warburg micro syndrome 3 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-05-27T16:31:01.613892+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.7","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32162846; Phenotypes: Cowden syndrome 1 158350, Lhermitte-Duclos syndrome 158350, Macrocephaly/autism syndrome 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-27T16:30:18.237499+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ANO5: 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: 28176803, 32112655; Phenotypes: Gnathodiaphyseal dysplasia MIM#166260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANO5","entity_type":"gene"}]}