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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1312",
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"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"
}
]
}