{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1867","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1865","results":[{"created":"2020-04-12T18:04:09.806160+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS22 as ready","entity_name":"MRPS22","entity_type":"gene"},{"created":"2020-04-12T18:04:09.797761+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps22 has been classified as Green List (High Evidence).","entity_name":"MRPS22","entity_type":"gene"},{"created":"2020-04-12T18:03:46.567734+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS22 were changed from  to Combined oxidative phosphorylation deficiency 5, MIM# 611719","entity_name":"MRPS22","entity_type":"gene"},{"created":"2020-04-12T18:03:18.782255+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS22 were set to ","entity_name":"MRPS22","entity_type":"gene"},{"created":"2020-04-12T18:02:49.305845+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2020-04-12T18:02:20.508355+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS22","entity_type":"gene"},{"created":"2020-04-12T18:01:08.498657+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS2 as ready","entity_name":"MRPS2","entity_type":"gene"},{"created":"2020-04-12T18:01:08.485520+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps2 has been classified as Green List (High Evidence).","entity_name":"MRPS2","entity_type":"gene"},{"created":"2020-04-12T17:59:09.113723+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS2 were changed from  to Combined oxidative phosphorylation deficiency 36, MIM# 617950","entity_name":"MRPS2","entity_type":"gene"},{"created":"2020-04-12T17:58:39.421633+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS2 were set to ","entity_name":"MRPS2","entity_type":"gene"},{"created":"2020-04-12T17:58:10.574831+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS2","entity_type":"gene"},{"created":"2020-04-12T17:57:40.076073+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRPS2","entity_type":"gene"},{"created":"2020-04-12T17:54:04.396690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIEF2 was added\ngene: MIEF2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIEF2 were set to 29361167\nPhenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency\nReview for gene: MIEF2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-04-12T17:52:33.199866+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIEF2 as ready","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-04-12T17:52:33.190545+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mief2 has been classified as Red List (Low Evidence).","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-04-12T17:52:24.429296+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MIEF2 was added\ngene: MIEF2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MIEF2 were set to 29361167\nPhenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency\nReview for gene: MIEF2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-04-12T17:43:46.170244+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HAAO: Changed rating: GREEN; Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660","entity_name":"HAAO","entity_type":"gene"},{"created":"2020-04-12T17:38:47.299610+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2020-04-12T17:38:47.290925+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Amber List (Moderate Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2020-04-12T17:38:43.199476+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXOSC3 as Amber List (moderate evidence)","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2020-04-12T17:38:43.186302+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Amber List (Moderate Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2020-04-12T17:38:14.207955+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EXOSC3 was added\ngene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC3 were set to 28687512\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B\t614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction\nReview for gene: EXOSC3 was set to AMBER\nAdded comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex. \nSources: Expert list","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2020-04-12T17:26:48.167727+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERAL1 as ready","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:26:48.157708+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eral1 has been classified as Amber List (Moderate Evidence).","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:26:44.181411+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERAL1 as Amber List (moderate evidence)","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:26:44.167641+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eral1 has been classified as Amber List (Moderate Evidence).","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:26:14.418542+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERAL1 was added\ngene: ERAL1 was added to Deafness. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM#\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. \nSources: Expert list","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:24:38.374479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERAL1 as ready","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:24:38.361479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eral1 has been classified as Amber List (Moderate Evidence).","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:24:28.450990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERAL1 as Amber List (moderate evidence)","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:24:28.442023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eral1 has been classified as Amber List (Moderate Evidence).","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:24:08.844017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERAL1 was added\ngene: ERAL1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM#\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. \nSources: Expert list","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:22:40.198711+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERAL1 as ready","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:22:40.185184+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eral1 has been classified as Amber List (Moderate Evidence).","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:22:34.463332+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERAL1 as Amber List (moderate evidence)","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:22:34.454728+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eral1 has been classified as Amber List (Moderate Evidence).","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:22:06.309445+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERAL1 was added\ngene: ERAL1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERAL1 were set to 28449065\nPhenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM#\t617565\nReview for gene: ERAL1 was set to AMBER\nAdded comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. \nSources: Expert list","entity_name":"ERAL1","entity_type":"gene"},{"created":"2020-04-12T17:16:53.870586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COX5A as ready","entity_name":"COX5A","entity_type":"gene"},{"created":"2020-04-12T17:16:53.857204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cox5a has been classified as Red List (Low Evidence).","entity_name":"COX5A","entity_type":"gene"},{"created":"2020-04-12T17:16:40.021116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2170","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COX5A was added\ngene: COX5A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX5A were set to 2824752\nPhenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency\nReview for gene: COX5A was set to RED\nAdded comment: Single family reported. \nSources: Expert list","entity_name":"COX5A","entity_type":"gene"},{"created":"2020-04-12T17:12:43.436045+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX4I1","entity_type":"gene"},{"created":"2020-04-12T16:54:13.498766+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHKB as ready","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-04-12T16:54:13.489795+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chkb has been classified as Green List (High Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-04-12T16:54:10.608209+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHKB as Green List (high evidence)","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-04-12T16:54:10.593978+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chkb has been classified as Green List (High Evidence).","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-04-12T16:53:41.181724+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHKB was added\ngene: CHKB was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHKB were set to 21665002; 23692895; 24997086\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM#\t602541; Intellectual disability; Abnormal mitochondria\nReview for gene: CHKB was set to GREEN\nAdded comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy. \nSources: Expert list","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-04-12T16:49:21.327721+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C1QBP as ready","entity_name":"C1QBP","entity_type":"gene"},{"created":"2020-04-12T16:49:21.314370+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c1qbp has been classified as Green List (High Evidence).","entity_name":"C1QBP","entity_type":"gene"},{"created":"2020-04-12T16:45:40.909900+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C1QBP were changed from  to Combined oxidative phosphorylation deficiency 33, MIM# 617713","entity_name":"C1QBP","entity_type":"gene"},{"created":"2020-04-12T16:44:52.005116+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C1QBP were set to ","entity_name":"C1QBP","entity_type":"gene"},{"created":"2020-04-12T16:44:23.296517+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C1QBP","entity_type":"gene"},{"created":"2020-04-12T16:43:50.900085+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C1QBP","entity_type":"gene"},{"created":"2020-04-12T16:17:07.347097+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2518","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome, MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T16:16:57.403955+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFS4 as ready","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T16:16:57.391081+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufs4 has been classified as Green List (High Evidence).","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T16:16:41.881281+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T16:15:39.077147+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFS4 were changed from  to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T16:15:15.974743+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFS4 were set to ","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T16:13:42.258668+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2020-04-12T14:51:11.026558+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-04-12T14:49:16.514469+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple individuals reported with GoF variants, most commonly E1021K.; to: Multiple individuals reported with GoF variants, most commonly E1021K. Note recent reports of bi-allelic variants causing disease: severe bacterial infections, and increased chance of autoimmunity.","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-04-12T14:48:43.093103+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIK3CD: Changed publications: 24136356, 30018075, 24165795, 31073077; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2020-04-12T14:35:27.463918+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia","entity_name":"WDR1","entity_type":"gene"},{"created":"2020-04-12T14:33:45.494010+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia","entity_name":"WDR1","entity_type":"gene"},{"created":"2020-04-12T14:23:34.461146+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAF3IP2 as ready","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:23:34.448017+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:19:19.096160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAF3IP2 as ready","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:19:19.087372+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:19:06.628686+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAF3IP2 were changed from  to Candidiasis, familial, 8, MIM# 615527","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:18:51.658358+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAF3IP2 were set to ","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:18:37.334557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:18:22.463945+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAF3IP2 were changed from  to Candidiasis, familial, 8, MIM# 615527","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:18:19.279681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAF3IP2 as Amber List (moderate evidence)","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:18:19.270770+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:17:57.468996+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAF3IP2 were set to ","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:17:55.702821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:17:34.140146+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:16:59.943054+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAF3IP2 as Amber List (moderate evidence)","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:16:59.934539+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:16:29.549556+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAF3IP2","entity_type":"gene"},{"created":"2020-04-12T14:08:52.922705+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAF3 as ready","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:08:52.914378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Red List (Low Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:08:44.708256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAF3 were changed from  to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:08:30.438024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAF3 were set to ","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:07:53.059180+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:07:35.183272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAF3 as Red List (low evidence)","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:07:35.174596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Red List (Low Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:07:15.464826+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:06:30.282117+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAF3 as ready","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:06:30.267964+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Red List (Low Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:06:27.206931+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAF3 were changed from  to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:06:04.486387+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAF3 were set to ","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:05:35.421809+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:05:07.616238+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAF3 as Red List (low evidence)","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:05:07.607890+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Red List (Low Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:04:31.080315+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:03:41.092888+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAF3 as ready","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T14:03:41.084262+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traf3 has been classified as Red List (Low Evidence).","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T13:59:56.895458+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAF3 were changed from  to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849","entity_name":"TRAF3","entity_type":"gene"},{"created":"2020-04-12T13:59:33.911741+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAF3 were set to ","entity_name":"TRAF3","entity_type":"gene"}]}