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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1806",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1804",
"results": [
{
"created": "2020-05-06T20:50:53.754931+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH1 were set to ",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:50:23.618181+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:49:56.492886+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH1 as Amber List (moderate evidence)",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:49:56.484585+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:48:23.746048+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPH9 as ready",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:48:23.736705+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rsph9 has been classified as Green List (High Evidence).",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:47:25.619059+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPH9 were changed from to Ciliary dyskinesia, primary, 12 (MIM#612650)",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:46:55.439824+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPH9 were set to ",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:46:25.744747+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:45:33.495001+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:45:33.485811+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:45:10.902260+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZIC3 as Green List (high evidence)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:45:10.889137+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Green List (High Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:44:15.515932+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC3 as ready",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:44:15.507173+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:44:11.867955+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked (MIM#306955)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:43:48.093091+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC3 were set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:43:23.441593+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:42:54.395390+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZIC3 as Red List (low evidence)",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:42:54.382251+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic3 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:42:23.846693+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:39:34.333664+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRELD1 as ready",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:39:34.324651+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:39:21.583485+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Green List (high evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:39:21.574788+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:38:36.011525+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRELD1 was added\ngene: CRELD1 was added to Heterotaxy. Sources: Expert list\nMode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRELD1 were set to 22740159\nPhenotypes for gene: CRELD1 were set to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217\nReview for gene: CRELD1 was set to GREEN\nAdded comment: Three families reported with heterozygous missense variants and heterotaxy phenotype. \nSources: Expert list",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:36:55.969690+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRELD1 as ready",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:36:55.960527+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Red List (Low Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:36:53.234812+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:36:29.803425+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRELD1 were set to ",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:36:01.733726+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRELD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:35:01.606980+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRELD1 as Red List (low evidence)",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:35:01.595675+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Red List (Low Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:34:02.428849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFC1 as ready",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:34:02.419857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Green List (High Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:33:53.196753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:33:28.601072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:32:16.611073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:31:57.270101+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFC1 as ready",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:31:57.260932+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Green List (High Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:31:52.330040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:31:42.218523+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFC1 as Green List (high evidence)",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:31:42.210009+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Green List (High Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:31:07.759331+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFC1 was added\ngene: CFC1 was added to Heterotaxy. Sources: Expert list\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CFC1 were set to 31633655; 18162845; 25423076; 11062482\nPhenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal 605376\nReview for gene: CFC1 was set to GREEN\nAdded comment: PMID: 31633655 - 1 patient with a heterozygous missense, paternally inherited. The proband has situs inversus with biliary atresia, while the father did not have biliary atresia but DID have situs inversus PMID: 18162845 - recurring missense (p.Ala145Thr) reported in 5 patients with biliary atresia splenic malformation syndrome. Authors conclude the variant may not be completely causative but create a predisposition to the syndrome. This variant has 145 hets in the population (gnomAD) but with strong strand bias - may not be real. PMID: 25423076 - 8 patients reported with heterotaxy and CNVs resulting in the deletion of CFC1. Clear breakpoints not mentioned, but CNVs are suggestive to be multigenic. PMID: 11062482 - 9 heterozygous patients with mostly missense but also one PTC. Null zebrafish model recapitulate the mutant phenotype, could not be rescued by 2 mutant mRNA. \nSources: Expert list",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:28:43.930939+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFC1 as ready",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:28:43.919858+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Red List (Low Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:28:40.722178+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:28:11.614985+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:27:00.805033+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:26:06.983754+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFC1 as Red List (low evidence)",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:26:06.974726+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Red List (Low Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:24:41.492204+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1G as ready",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:24:41.481346+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Green List (High Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:24:37.709577+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1G as Green List (high evidence)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:24:37.700915+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Green List (High Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:24:05.690226+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: SCNN1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3, MIM#\t613071\nReview for gene: SCNN1G was set to GREEN\nAdded comment: Phenotypic overlap with PCD. \nSources: Expert list",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:22:11.995044+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1G as ready",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:22:11.983229+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Red List (Low Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:21:51.196231+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCNN1G: Changed phenotypes: Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:21:36.800045+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:21:05.140455+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1G as Red List (low evidence)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:21:05.131421+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Red List (Low Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:20:31.747212+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1G as Amber List (moderate evidence)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:20:31.738404+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:18:16.534104+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAG1 as ready",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:18:16.521814+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spag1 has been classified as Green List (High Evidence).",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:18:13.878959+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28 (MIM#615505)",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:17:43.335475+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPAG1 were set to ",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:17:13.094839+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:15:00.285641+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:15:00.269368+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Red List (Low Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:14:22.307752+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMM2 as Red List (low evidence)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:14:22.293512+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Red List (Low Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:13:48.620030+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:12:13.277242+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKCSH as ready",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:12:13.271713+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Potential phenotypic overlap with ciliopathies.",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:12:13.232000+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:11:53.197495+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 (MIM#174050)",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:11:33.463710+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCSH were set to 19876928",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:11:12.807007+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCSH were set to 19876928",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:10:52.584770+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKCSH were set to ",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:09:33.888213+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PRKCSH was changed from to Other",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:08:59.150317+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKCSH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:08:09.458755+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRKCSH as Amber List (moderate evidence)",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:08:09.446313+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkcsh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:06:51.469958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP53 as ready",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:06:51.460651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Green List (High Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:06:39.461781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive 614779",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:06:13.497699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP53 were set to ",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:05:45.577513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:05:20.246711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 28621423, 22577226, 26531781; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive 614779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:03:30.455892+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP53 as ready",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:03:30.440436+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Green List (High Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:02:56.718829+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP53 as Green List (high evidence)",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T20:02:56.707565+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Green List (High Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:50:01.518507+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP53 as ready",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:50:01.502886+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:49:57.013269+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive 614779",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:49:27.556429+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP53 were set to ",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:48:58.000806+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP53",
"entity_type": "gene"
}
]
}