{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=338","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=336","results":[{"created":"2024-11-28T14:08:03.081498+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.607","user_name":"Lilian Downie","item_type":"entity","text":"Gene: bin1 has been classified as Green List (High Evidence).","entity_name":"BIN1","entity_type":"gene"},{"created":"2024-11-28T14:07:56.651462+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.607","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive, 255200 (3) to Centronuclear myopathy 2, MIM# 255200","entity_name":"BIN1","entity_type":"gene"},{"created":"2024-11-28T14:07:40.610442+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.606","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: BIN1 were set to ","entity_name":"BIN1","entity_type":"gene"},{"created":"2024-11-28T14:06:56.976555+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.605","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FREM2 as ready","entity_name":"FREM2","entity_type":"gene"},{"created":"2024-11-28T14:06:56.964762+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.605","user_name":"Lilian Downie","item_type":"entity","text":"Gene: frem2 has been classified as Green List (High Evidence).","entity_name":"FREM2","entity_type":"gene"},{"created":"2024-11-28T14:06:53.042130+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.605","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FREM2 were set to ","entity_name":"FREM2","entity_type":"gene"},{"created":"2024-11-28T14:06:13.850530+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.604","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: BMPER as ready","entity_name":"BMPER","entity_type":"gene"},{"created":"2024-11-28T14:06:13.832889+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.604","user_name":"Lilian Downie","item_type":"entity","text":"Gene: bmper has been classified as Green List (High Evidence).","entity_name":"BMPER","entity_type":"gene"},{"created":"2024-11-28T14:06:07.923812+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.604","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: BMPER were set to ","entity_name":"BMPER","entity_type":"gene"},{"created":"2024-11-28T14:03:55.628599+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.603","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ATP6AP1 as ready","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2024-11-28T14:03:55.609973+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.603","user_name":"Lilian Downie","item_type":"entity","text":"Gene: atp6ap1 has been classified as Green List (High Evidence).","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2024-11-28T14:03:51.922399+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.603","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, 300972 (3), X-linked recessive to Immunodeficiency 47, MIM#300972","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2024-11-28T14:03:37.103228+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.602","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ATP6AP1 were set to ","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2024-11-28T14:02:50.994480+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.601","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: BBS5 as ready","entity_name":"BBS5","entity_type":"gene"},{"created":"2024-11-28T14:02:50.980268+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.601","user_name":"Lilian Downie","item_type":"entity","text":"Gene: bbs5 has been classified as Green List (High Evidence).","entity_name":"BBS5","entity_type":"gene"},{"created":"2024-11-28T14:02:48.919236+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.601","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, MIM#615983 to Bardet-Biedl syndrome 5, MIM#615983","entity_name":"BBS5","entity_type":"gene"},{"created":"2024-11-28T14:02:46.399073+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.600","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, 615983 (3) to Bardet-Biedl syndrome 5, MIM#615983","entity_name":"BBS5","entity_type":"gene"},{"created":"2024-11-28T14:02:26.209354+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.599","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: BBS5 were set to ","entity_name":"BBS5","entity_type":"gene"},{"created":"2024-11-28T14:01:51.060976+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.598","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: BCKDHA as ready","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2024-11-28T14:01:51.050774+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.598","user_name":"Lilian Downie","item_type":"entity","text":"Gene: bckdha has been classified as Green List (High Evidence).","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2024-11-28T14:01:47.260697+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.598","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia, 248600 (3) to Maple syrup urine disease, type Ia, MIM# 248600","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2024-11-28T14:01:31.646044+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.597","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: BCKDHA were set to ","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2024-11-28T14:00:46.335312+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.596","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CA2 as ready","entity_name":"CA2","entity_type":"gene"},{"created":"2024-11-28T14:00:46.323572+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.596","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ca2 has been classified as Green List (High Evidence).","entity_name":"CA2","entity_type":"gene"},{"created":"2024-11-28T14:00:42.614768+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.596","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730","entity_name":"CA2","entity_type":"gene"},{"created":"2024-11-28T14:00:36.881836+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ELN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T14:00:22.392879+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.595","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CA2 were set to ","entity_name":"CA2","entity_type":"gene"},{"created":"2024-11-28T14:00:15.356962+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:FBN1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:59:40.603186+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.594","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CCDC115 as ready","entity_name":"CCDC115","entity_type":"gene"},{"created":"2024-11-28T13:59:40.575295+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.594","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ccdc115 has been classified as Green List (High Evidence).","entity_name":"CCDC115","entity_type":"gene"},{"created":"2024-11-28T13:59:35.963005+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.594","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: CCDC115 were changed from Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIo, MIM#616828","entity_name":"CCDC115","entity_type":"gene"},{"created":"2024-11-28T13:59:18.476662+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.593","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CCDC115 were set to ","entity_name":"CCDC115","entity_type":"gene"},{"created":"2024-11-28T13:58:06.411169+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:FLT4 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:57:18.090705+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.11","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301510, 12598898, 22772371, 34795948; Phenotypes: Marfan syndrome MONDO:0007947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN1","entity_type":"gene"},{"created":"2024-11-28T13:47:41.911685+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:FOXF1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:46:49.108771+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:GLA from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:46:37.692271+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:GLMN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:46:23.304847+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:GNAQ from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:46:12.840220+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:HLA-B from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:44:51.434906+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:HLA-DQB1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:44:29.931806+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:HLA-DRB1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:44:16.526814+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:HTRA1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:44:01.341989+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:IL6 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:43:36.521419+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:JAG1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:43:22.734902+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:KDR from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:43:10.447706+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.91","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:LAMB1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:41:22.179427+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:LAMC3 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:40:56.809966+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:LARGE1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:39:44.036293+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:MEF2C from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:39:22.325210+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.87","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:NDE1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:39:09.127655+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:NIN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:38:28.197350+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:NOTCH3 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:37:30.403103+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:OCLN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:26:08.857383+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:OPHN1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:25:55.643431+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.82","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:PAFAH1B1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:24:23.319678+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:PIK3R2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:21:37.382674+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.80","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:POMGNT1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:20:51.435680+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:POMT1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:20:35.463422+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:POMT2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:11:12.629252+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:PTEN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:10:45.774542+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:RBBP8 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:10:30.625452+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:RELN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T13:10:16.342021+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.74","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:RTTN from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T12:20:16.579282+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: None","entity_name":"CCDC115","entity_type":"gene"},{"created":"2024-11-28T12:08:55.845441+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.11","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301667, 24591672, 22610159, 19420820; Phenotypes: Ehlers-Danlos syndrome, vascular type MONDO:0017314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL3A1","entity_type":"gene"},{"created":"2024-11-28T11:07:11.466548+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.106","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html","entity_name":"ERG","entity_type":"gene"},{"created":"2024-11-28T10:41:26.113507+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.73","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:SMAD3 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:41:09.917753+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.72","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:SMARCAL1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:40:52.558078+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:SRPX2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:40:32.966805+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.70","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:STAMBP from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:40:17.803550+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TEK from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:39:57.820280+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TGFB2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:39:40.515059+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TGFBR1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:39:17.775813+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TGFBR2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:38:42.279019+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TMEM5 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:38:20.544018+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.64","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TRAIP from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:37:55.820288+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBA1A from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:37:43.208856+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBA8 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:37:27.844342+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.61","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBB from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:37:13.477548+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBB2A from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:36:26.497739+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.59","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBB2B from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:35:55.956567+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.58","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBB3 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:35:44.646122+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TUBG1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-28T10:35:32.696690+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:VLDLR from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-27T16:07:47.567634+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.55","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:WDR62 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-27T16:07:29.286746+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:DNA2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-27T16:07:17.222006+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ATP7A from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-27T16:04:24.305205+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PKD1 as Green List (high evidence)","entity_name":"PKD1","entity_type":"gene"},{"created":"2024-11-27T16:04:24.291559+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pkd1 has been classified as Green List (High Evidence).","entity_name":"PKD1","entity_type":"gene"},{"created":"2024-11-27T16:03:43.382860+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EPHB4 as Green List (high evidence)","entity_name":"EPHB4","entity_type":"gene"},{"created":"2024-11-27T16:03:43.357145+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ephb4 has been classified as Green List (High Evidence).","entity_name":"EPHB4","entity_type":"gene"},{"created":"2024-11-27T15:34:14.188469+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.27","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Classified as Definitive by ClinGen GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746\r\n\r\nMechanism of disease is GoF. \r\nHeterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334; to: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746\r\n\r\nMechanism of disease is GoF. \r\nHeterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-11-27T15:34:01.106240+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.27","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24404629, 16577715, 15654334; Phenotypes: hypercholesterolemia, autosomal dominant, 3 MONDO:0011369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PCSK9","entity_type":"gene"},{"created":"2024-11-27T15:30:19.479581+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.27","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24404629; Phenotypes: hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOB","entity_type":"gene"},{"created":"2024-11-27T15:11:48.980092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2151","user_name":"Lucy Spencer","item_type":"entity","text":"changed review comment from: Probable 2nd internal VCGS case 24W004707 with intellectual disability and seizures and a de novo Gly226Arg variant.; to: Probable 2nd internal VCGS case with intellectual disability and seizures and a de novo Gly226Arg variant.","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-27T09:50:40.420070+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PIEZO1.","entity_name":"PIEZO1","entity_type":"gene"},{"created":"2024-11-27T06:17:39.134573+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-27T06:16:52.697517+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-27T06:16:25.438491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM#\t621016","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-27T06:15:51.618941+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM#\t621016","entity_name":"WDR83OS","entity_type":"gene"}]}