{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1312","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1310","results":[{"created":"2021-06-04T10:00:16.823219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7796","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POU4F1 was added\ngene: POU4F1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU4F1 were set to 33783914; 8876243\nPhenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia\nReview for gene: POU4F1 was set to GREEN\nAdded comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model. \nSources: Literature","entity_name":"POU4F1","entity_type":"gene"},{"created":"2021-06-03T20:15:35.864052+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS6 as ready","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:15:35.854784+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps6 has been classified as Green List (High Evidence).","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:15:32.902836+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS6 were changed from  to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:15:10.750261+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS6 were set to ","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:14:36.573574+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:14:07.143015+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:13:30.398160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7795","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS6 as ready","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:13:30.387639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps6 has been classified as Green List (High Evidence).","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:13:19.113404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7795","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS6 were changed from  to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:12:57.989231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7794","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS6 were set to ","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:12:39.917391+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS6 as ready","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:12:39.903499+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps6 has been classified as Green List (High Evidence).","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:12:36.886314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7793","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:12:19.158206+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS6 were changed from  to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:12:18.035237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7792","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:11:43.970971+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS6 were set to ","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:11:08.661615+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:10:44.411383+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12548288, 17041891, 19843503; Phenotypes: Hermansky-Pudlak syndrome 6, MIM# 614075, MONDO:0013558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-06-03T20:08:12.259911+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS4 as ready","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:08:12.249996+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Green List (High Evidence).","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:06:56.096566+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS4 were changed from  to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:06:32.376454+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS4 were set to ","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:05:59.348238+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:05:34.525434+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:56.287268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7792","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS4 as ready","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:56.276992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7792","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Green List (High Evidence).","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:50.180848+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS4 as ready","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:50.169751+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Green List (High Evidence).","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:48.542736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7792","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS4 were set to ","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:39.938865+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS4 were changed from  to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:31.204839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS4 were changed from  to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:04:07.717599+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7790","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:03:47.230923+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7789","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:03:43.100193+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS4 were set to ","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:03:03.405596+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T20:02:38.778059+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11836498, 12664304; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073, MONDO:0013556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-06-03T19:50:47.657910+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS3 as ready","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:50:47.648647+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps3 has been classified as Green List (High Evidence).","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:50:44.328952+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS3 were changed from  to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:48:56.282932+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS3 were set to ","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:48:27.823038+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:47:54.614025+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:47:19.839625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7789","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS3 as ready","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:47:19.814146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7789","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps3 has been classified as Green List (High Evidence).","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:47:11.639921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7789","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS3 were changed from  to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:46:50.781130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7788","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS3 were set to ","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:46:31.999205+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7787","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:46:12.752558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7786","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:45:26.103549+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS3 as ready","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:45:26.092001+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps3 has been classified as Green List (High Evidence).","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:45:23.262278+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS3 were changed from  to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:44:51.109089+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS3 were set to ","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:44:27.199379+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:44:12.619732+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:43:42.638441+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HPS3: Added comment: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.\r\n\r\nWell established gene-disease association.; Changed phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072, MONDO:0013555","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T19:42:52.621796+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS3","entity_type":"gene"},{"created":"2021-06-03T17:08:15.977634+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS1 as ready","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:08:15.966939+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Green List (High Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:08:09.811198+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS1 as ready","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:08:09.800097+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Green List (High Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:08:07.207409+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS1 were changed from  to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:07:40.467728+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS1 were set to ","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:07:06.044585+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:06:48.671085+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS1 were changed from  to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:06:25.675718+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:05:43.042143+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7786","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS1 as ready","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:05:43.031677+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps1 has been classified as Green List (High Evidence).","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:05:35.473121+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7786","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS1 were changed from  to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:05:05.165544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7785","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS1 were set to ","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:04:48.724481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7784","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:04:29.484947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7783","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:04:25.426045+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS1 were set to ","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:03:50.817522+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:02:58.526165+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9497254; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300, MONDO:0008748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPS1","entity_type":"gene"},{"created":"2021-06-03T17:00:20.193635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7783","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP9 as ready","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T17:00:20.182699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7783","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp9 has been classified as Green List (High Evidence).","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T17:00:02.726371+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7783","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GP9 were changed from  to Bernard-Soulier syndrome, type C, MIM# 231200","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:59:38.926971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7782","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP9 were set to ","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:59:17.787248+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7781","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:58:59.790929+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7780","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428, 33553065, 32030720, 31484196; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:57:53.280059+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP9 as ready","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:57:53.266595+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp9 has been classified as Green List (High Evidence).","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:57:47.796770+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GP9 were changed from  to Bernard-Soulier syndrome, type C, MIM# 231200","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:57:26.540668+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP9 were set to ","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:56:57.834809+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:56:12.328501+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GP9: Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.\r\n\r\nAt least 3 unrelated families reported, animal model.; Changed publications: 8049428, 33553065, 32030720, 31484196","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:54:27.071179+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 8049428; Phenotypes: Bernard-Soulier syndrome, type C, MIM# 231200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP9","entity_type":"gene"},{"created":"2021-06-03T16:53:31.776549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7780","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP6 as ready","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:53:31.765897+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7780","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp6 has been classified as Green List (High Evidence).","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:53:21.359895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7780","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GP6 were changed from  to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:53:01.952703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7779","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP6 were set to ","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:50:08.817428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7778","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:49:51.097632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7777","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:49:03.516218+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP6 as ready","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:49:03.504922+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp6 has been classified as Green List (High Evidence).","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:49:01.039336+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GP6 were changed from  to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:48:32.785915+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP6 were set to 19549989; 19552682; 23815599","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:48:18.549907+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP6 were set to ","entity_name":"GP6","entity_type":"gene"},{"created":"2021-06-03T16:47:50.788720+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP6","entity_type":"gene"}]}