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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1209",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1207",
"results": [
{
"created": "2021-09-18T12:55:46.153730+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Red List (Low Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:55:40.563426+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A3: Changed rating: RED",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:55:34.261540+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Red List (low evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:55:34.249340+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Red List (Low Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:55:04.823407+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP1A3 was added\ngene: ATP1A3 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235\nReview for gene: ATP1A3 was set to GREEN\nAdded comment: The disorders associated with variants in this gene tend to have episodic symptoms, insufficient overlap with CP. \nSources: Expert Review",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:12:54.127117+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL3 as ready",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:12:54.115910+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl3 has been classified as Red List (Low Evidence).",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:12:44.180005+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL3 was added\ngene: ASXL3 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ASXL3 were set to Bainbridge-Ropers syndrome, MIM#\t615485\nReview for gene: ASXL3 was set to RED\nAdded comment: Severe neurodevelopmental disorder but no strong overlap with CP. \nSources: Expert Review",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:05:27.488440+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:05:27.478850+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:05:22.671262+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARX as Green List (high evidence)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:05:22.662740+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:04:52.549373+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARX was added\ngene: ARX was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARX were set to Developmental and epileptic encephalopathy 1, MIM#\t308350; Lissencephaly, X-linked 2, MIM#\t300215; Proud syndrome, MIM#\t300004\nReview for gene: ARX was set to GREEN\nAdded comment: Well established gene-disease association. Phenotypic overlap: ID/seizures/abnormal tone. \nSources: Expert Review",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:55.679943+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:55.670048+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Green List (High Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:51.149160+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMPD2 as Green List (high evidence)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:51.138934+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Green List (High Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:07.682258+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:07.672543+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Green List (High Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T12:00:02.598428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:59:35.975370+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMPD2 were set to ",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:59:10.159262+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:58:41.748805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911318, 27066553; Phenotypes: Pontocerebellar hypoplasia, type 9, MIM#615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:58:30.115506+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:58:30.103971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Green List (High Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:58:22.209528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:58:08.366285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMPD2 were set to ",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:57:27.712317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:57:07.899928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:57:01.334200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AMPD2: Added comment: Well established gene-disease association. Clinical features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.; Changed rating: GREEN; Changed publications: 23911318, 27066553",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:55:50.691349+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD2 were set to 23911318; 27066553; 29761117\nPhenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, MIM#\t615809\nReview for gene: AMPD2 was set to GREEN\nAdded comment: Well established gene-disease association. Phenotypic overlap: ID and spastic paraplegia. Reported in CP cohort. \nSources: Expert Review",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:53:31.426401+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ALS2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-18T11:52:53.223399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALS2 as ready",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:52:53.212719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: als2 has been classified as Green List (High Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:52:44.260705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALS2 as Green List (high evidence)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:52:44.251032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: als2 has been classified as Green List (High Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:51:13.608062+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALS2 as ready",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:51:13.598509+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: als2 has been classified as Green List (High Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:51:02.619433+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALS2 as Green List (high evidence)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:51:02.608827+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: als2 has been classified as Green List (High Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:50:38.694053+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALS2 was added\ngene: ALS2 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALS2 were set to 12145748; 33409823; 30128655\nPhenotypes for gene: ALS2 were set to Spastic paralysis, infantile onset ascending, MIM#\t607225\nReview for gene: ALS2 was set to GREEN\nAdded comment: Well established gene-disease association. Phenotypic overlap with CP. \nSources: Expert Review",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:47:05.763572+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH3A2 as ready",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:47:05.753225+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:47:01.035511+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDH3A2 as Green List (high evidence)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:47:01.024950+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh3a2 has been classified as Green List (High Evidence).",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-09-18T11:46:23.602815+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH3A2 were set to 9027499; 9829906; 28543186\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM#\t270200\nReview for gene: ALDH3A2 was set to GREEN\nAdded comment: Well established gene-disease association. Phenotypic overlap with CP: ID and spastic paraplegia. \nSources: Expert list",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:20:42.810311+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-18T10:20:15.188365+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-18T10:16:25.642992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBG2 as ready",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:16:25.627682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbg2 has been classified as Green List (High Evidence).",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:16:17.625699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBG2 were changed from to Fetal hemoglobin quantitative trait locus 1, MIM# 141749; Cyanosis, transient neonatal, MIM# 613977",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:15:59.628022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HBG2 were set to ",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:15:32.543913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:15:15.344288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26500940; Phenotypes: Fetal hemoglobin quantitative trait locus 1, MIM# 141749, Cyanosis, transient neonatal, MIM# 613977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:14:31.157569+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBG2 as ready",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:14:31.148420+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbg2 has been classified as Green List (High Evidence).",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:14:28.908066+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBG2 were changed from Cyanosis, transient neonatal, 613977; 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749 to Fetal haemoglobin quantitative trait locus 1, MIM# 141749; Cyanosis, transient neonatal, MIM# 613977",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:14:11.561201+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:14:02.895195+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal hemoglobin quantitative trait locus 1, MIM# 141749, Cyanosis, transient neonatal, MIM# 613977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBG2",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:12:39.074263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBG1 as ready",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:12:39.064615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbg1 has been classified as Green List (High Evidence).",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:12:30.227623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HBG1 as Green List (high evidence)",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:12:30.217754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbg1 has been classified as Green List (High Evidence).",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:12:13.787118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBG1 was added\ngene: HBG1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HBG1 were set to 26500940\nPhenotypes for gene: HBG1 were set to Fetal haemoglobin quantitative trait locus 1, 141749\nReview for gene: HBG1 was set to GREEN\nAdded comment: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or haematologic manifestations. \nSources: Expert Review",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:10:46.290302+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBG1 as ready",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:10:46.279763+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbg1 has been classified as Green List (High Evidence).",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:10:43.610868+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBG1 were changed from 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1, 141749 to Fetal haemoglobin quantitative trait locus 1, 141749",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:08:51.733670+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations.; to: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or haematologic manifestations.",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-18T10:08:39.059226+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal haemoglobin quantitative trait locus 1 141749; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HBG1",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:03:34.733704+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS24 as ready",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:03:34.724855+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps24 has been classified as Green List (High Evidence).",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:03:32.083116+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS24 were changed from Inherited Bone Marrow Failure Syndromes; Diamond-blackfan anemia 3, 610629; Diamond-Blackfan Anemia 3; Diamond Blackfan anemia; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 3; Diamond_Blackfan Anemia 3; 610629 Diamond_Blackfan Anemia 3; 610629 Diamond-blackfan anemia 3 to Diamond-Blackfan anaemia 3, MIM# 610629",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:03:12.572890+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS24 were set to 17186470; 23812780",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:02:40.721596+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS19 as ready",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:02:40.711433+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps19 has been classified as Green List (High Evidence).",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:02:37.230153+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS19 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 105650 Diamond-Blackfan anemia 1; 105650 Diamond_Blackfan Anemia 1; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia to Diamond-Blackfan anaemia 1, MIM# 105650; MONDO:0007110",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:02:23.934989+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS19 were set to 9988267",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:01:15.050786+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS17 as ready",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:01:15.034183+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps17 has been classified as Green List (High Evidence).",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2021-09-17T20:01:11.155048+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4 to Diamond-Blackfan anaemia 4, MIM# 612527",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:59:57.238545+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS10 as ready",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:59:57.227906+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps10 has been classified as Green List (High Evidence).",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:59:54.354881+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS10 were changed from 613308 Diamond-Blackfan anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 9; Diamond-Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; 613308 Diamond_Blackfan Anemia 9; Diamond_Blackfan Anemia 9 to Diamond-Blackfan anaemia 9, MIM# 613308",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:59:37.378871+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS10 were set to 20116044",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:58:42.516003+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL9 as ready",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:58:42.501737+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:58:33.149071+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL9 were changed from Diamond-Blackfan anemia; N/A Diamond-Blackfan anemia; ?Diamond-Blackfan anaemia to Diamond Blackfan anaemia",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:58:21.047807+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL9 were set to 29114930",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:58:02.130194+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL9 as Amber List (moderate evidence)",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:58:02.119914+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:57:12.152994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT9B as ready",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:57:12.144198+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:57:04.155831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT9B were changed from to Renal agenesis/hypoplasia/dysplasia",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:56:44.486441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT9B were set to ",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:56:24.532849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT9B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:56:00.584237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WNT9B as Amber List (moderate evidence)",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:56:00.571724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt9b has been classified as Amber List (Moderate Evidence).",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:55:44.631894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WNT9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34145744; Phenotypes: Renal agenesis/hypoplasia/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:53:31.685643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX23 as ready",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2021-09-17T19:53:31.673287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx23 has been classified as Green List (High Evidence).",
"entity_name": "DDX23",
"entity_type": "gene"
}
]
}