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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1925",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1923",
"results": [
{
"created": "2020-02-19T18:25:37.526238+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh23 has been classified as Green List (High Evidence).",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:25:33.412903+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:23:25.370441+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH23 were set to ",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:22:58.772897+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:22:29.087599+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:17:08.434574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH23 as ready",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:17:08.425822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh23 has been classified as Green List (High Evidence).",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:16:54.424259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067)",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:16:29.805634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDH23 were set to ",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T18:16:12.408346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T13:03:51.555678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-02-19T11:32:54.516790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930), Retinitis pigmentosa 73 (MIM # 616544); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2020-02-19T10:47:56.217532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-02-19T10:35:02.759005+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2020-02-19T10:11:08.595769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-02-19T09:11:48.461277+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTNNB1 as ready",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-02-19T09:11:48.447341+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-02-19T09:11:43.367262+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTNNB1 as Green List (high evidence)",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-02-19T09:11:43.353165+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-02-19T09:11:12.419953+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNNB1 was added\ngene: CTNNB1 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects\t, MIM#615075\nReview for gene: CTNNB1 was set to GREEN\nAdded comment: Sources: Expert Review",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:57:58.019695+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A24 as ready",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:57:58.010391+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a24 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:57:50.359824+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, MIM#612289",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:57:16.647010+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:56:44.734799+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A24 as Red List (low evidence)",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:56:44.726025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a24 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:56:14.392347+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC25A24",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:53:52.818018+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A19 as Red List (low evidence)",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:53:52.809008+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:53:20.513272+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype through to a neuropathy.; to: Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype (founder effect) through to a neuropathy/disorder of episodic encephalopathy.",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:52:40.361030+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC25A19: Changed rating: RED",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:47:45.997072+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A2 as ready",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:47:45.983794+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:47:37.317249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A2 as Green List (high evidence)",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:47:37.303638+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:47:04.300829+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A2 was added\ngene: SLC1A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A2 were set to 27476654; 28777935\nPhenotypes for gene: SLC1A2 were set to Epileptic encephalopathy, early infantile, 41, MIM#617105; Intellectual disability\nReview for gene: SLC1A2 was set to GREEN\ngene: SLC1A2 was marked as current diagnostic\nAdded comment: Four unrelated individuals reported. \nSources: Expert list",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:31:03.115853+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM4 as ready",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:31:03.102127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:30:57.383420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:30:24.927789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHROOM4 as ready",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:30:24.914584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:30:11.859396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:28:42.537422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHROOM4 were set to ",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:27:59.018771+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHROOM4 were set to ",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:27:55.880832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:27:30.435800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM4 as Amber List (moderate evidence)",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:27:30.427075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:27:19.352857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:27:11.788098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:26:09.323557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM4 as Amber List (moderate evidence)",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:26:09.314695+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:25:32.417970+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:19:25.806588+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1B as ready",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:19:25.798166+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1b has been classified as Green List (High Evidence).",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:19:22.980322+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from to Diabetes mellitus, noninsulin-dependent 125853 AD; Renal cysts and diabetes syndrome 137920 AD; {Renal cell carcinoma} 144700",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:19:00.309553+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF1B were set to ",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:18:36.725888+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HNF1B was changed from to Other",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:18:09.146063+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:17:17.916910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F2 as ready",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:17:17.907758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f2 has been classified as Green List (High Evidence).",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:17:09.174187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:16:50.062500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F2 were set to ",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:16:31.812912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:16:16.554587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:15:58.614510+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:15:48.091107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:14:03.962433+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F2 as ready",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:14:03.953427+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f2 has been classified as Green List (High Evidence).",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:12:32.223494+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:12:06.117062+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F2 were set to ",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:10:52.278922+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: F2 was changed from to Other",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T18:10:30.662594+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T15:10:37.683954+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.6",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2020-02-18T15:02:46.358545+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.12",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25536396, 11845238, 15509593; Phenotypes: Diabetes mellitus, noninsulin-dependent 125853 AD, Renal cysts and diabetes syndrome 137920 AD, {Renal cell carcinoma} 144700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2020-02-17T19:02:10.624249+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1 as ready",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-02-17T19:02:10.610723+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-02-17T19:02:06.053758+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1 were changed from to Polycystic kidney disease 1, MIM# 173900",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-02-17T19:01:42.483129+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-02-17T17:53:32.802695+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.22",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:38:14.496079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD2 as ready",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:38:14.487558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Green List (High Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:37:53.714635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD2 as ready",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:37:53.705136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Green List (High Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:37:40.793653+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD2 as ready",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:37:40.784577+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Green List (High Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:30:03.846150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:29:50.253236+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:29:18.183902+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:28:38.376912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:28:12.039974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:27:21.574846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:23:13.280495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS1 as ready",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:23:13.267498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:23:04.842243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:22:45.475155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INTS1 were set to ",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:22:29.396111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:20:09.161794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:18:40.865114+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS1 as ready",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:18:40.851327+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2020-02-17T13:18:35.701588+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571",
"entity_name": "INTS1",
"entity_type": "gene"
}
]
}