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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1119",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1117",
"results": [
{
"created": "2021-11-24T23:03:13.323635+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.61",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "gene: TNFAIP3 was added\ngene: TNFAIP3 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923\nPhenotypes for gene: TNFAIP3 were set to Inflammatory bowel disease; Crohn's disease; Autoinflammatory syndrome, familial, Behcet-like\nPenetrance for gene: TNFAIP3 were set to unknown\nReview for gene: TNFAIP3 was set to GREEN\nAdded comment: 4 unrelated individuals with inflammatory bowel disease and variants TNFAIP3 - haploinsufficiency suggested as disease mechanism. \nSources: Literature",
"entity_name": "TNFAIP3",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:51:30.995152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYBA4 as ready",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:51:30.985397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryba4 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:51:21.061307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:51:00.920305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYBA4 were set to ",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:50:39.663993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:50:20.704179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:49:41.357791+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYBA4 as ready",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:49:41.345232+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryba4 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:49:31.842282+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:49:04.731149+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYBA4 were set to ",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:48:21.909172+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:47:55.694957+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:47:14.714942+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYBA4 as ready",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:47:14.703019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryba4 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:47:11.230188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 to Cataract 23, MIM# 610425",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:46:56.660400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYBA4 were set to ",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:46:38.244628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:46:23.684174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA4",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:32:30.331548+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYBA1 as ready",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:32:30.321226+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryba1 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:32:27.954091+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBA1 were changed from to Cataract 10, multiple types, MIM# 600881",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:31:51.878801+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYBA1 were set to ",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:31:28.219211+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:31:03.430851+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:30:25.527109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYBA1 as ready",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:30:25.511835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryba1 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:28:33.412730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBA1 were changed from to Cataract 10, multiple types, MIM# 600881",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:28:12.764429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYBA1 were set to ",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:27:56.035652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:27:53.710880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:27:32.633146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:26:46.661318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYBA1 as ready",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:26:46.652520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryba1 has been classified as Green List (High Evidence).",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:26:42.761698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYBA1 were changed from CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES to Cataract 10, multiple types, MIM# 600881",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:26:27.332201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYBA1 were set to ",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:26:09.415531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:25:56.030221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYBA1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:23:45.262776+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAA as ready",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:23:45.252936+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryaa has been classified as Green List (High Evidence).",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:22:55.462031+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAA were changed from to Cataract 9, multiple types, MIM# 604219",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:22:26.946597+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYAA were set to ",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:22:03.053952+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:21:32.138588+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:20:53.012263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAA as ready",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:20:53.001223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryaa has been classified as Green List (High Evidence).",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:20:42.436716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAA were changed from to Cataract 9, multiple types, MIM# 604219",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:19:21.608422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYAA were set to ",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:18:58.951259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:18:39.077128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:17:42.578822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAA as ready",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:17:42.568109+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryaa has been classified as Green List (High Evidence).",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:17:38.765018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYAA were changed from CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATARACT, NUCLEAR to Cataract 9, multiple types, MIM# 604219",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:17:12.247597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYAA were set to ",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:16:55.704057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:14:28.783369+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRTAP as ready",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:14:28.773544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crtap has been classified as Green List (High Evidence).",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:14:24.843651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII 610682 to Osteogenesis imperfecta, type VII, MIM# 610682",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:14:13.832464+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRTAP were set to ",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:12:43.368086+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DICER1 as ready",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:12:43.355512+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dicer1 has been classified as Green List (High Evidence).",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:12:40.158874+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DICER1 were changed from GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295 to DICER1 syndrome, MONDO:0017288",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:10:12.438470+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DICER1 as Green List (high evidence)",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:10:12.428369+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dicer1 has been classified as Green List (High Evidence).",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:09:24.020788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CALU as ready",
"entity_name": "CALU",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:09:24.009655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calu has been classified as Red List (Low Evidence).",
"entity_name": "CALU",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:09:15.796050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CALU as Red List (low evidence)",
"entity_name": "CALU",
"entity_type": "gene"
},
{
"created": "2021-11-24T18:09:15.784307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: calu has been classified as Red List (Low Evidence).",
"entity_name": "CALU",
"entity_type": "gene"
},
{
"created": "2021-11-24T14:59:45.508571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK3 as ready",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-11-24T14:59:45.495483+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-11-24T14:59:41.836945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2AK3 were changed from WOLCOTT-RALLISON SYNDROME to Wolcott-Rallison syndrome MIM#226980",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-11-24T14:44:38.419433+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.93",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: DICER1 was added\ngene: DICER1 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DICER1 were set to 27441995\nPhenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295\nReview for gene: DICER1 was set to GREEN\nAdded comment: PMID 27441995 - 28 DICER1 carriers were macrocephalic (42% of the NCI natural history cohort) versus 12% family controls [statistically significant]. Association independent of height and gender. The authors note this is a subtle but important phenotypic feature which would allow for initiation of cancer surveillance earlier, as with PTEN carriers. \nSources: Literature",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-11-24T14:30:44.672512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2AK3 were set to ",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-11-24T14:30:30.924581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-11-24T10:03:38.414379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9846",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CALU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CALU",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:40:14.536001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.689",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10932183, 7551159, 16813601; Phenotypes: Wolcott-Rallison syndrome MIM#226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:33:38.434130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRA as ready",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:33:38.422896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednra has been classified as Green List (High Evidence).",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:33:31.070957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:33:10.504476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDNRA were set to ",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:32:52.431303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:32:35.485191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:31:38.587721+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRA as ready",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:31:38.572225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednra has been classified as Green List (High Evidence).",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:31:34.667964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDNRA were changed from MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA to Mandibulofacial dysostosis with alopecia, MIM# 616367",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:31:22.064133+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDNRA were set to ",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:30:51.482593+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNPO3 as ready",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:30:51.472972+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnpo3 has been classified as Green List (High Evidence).",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:30:48.101237+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNPO3 were set to ",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:30:34.014471+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: TNPO3 was changed from to Other",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:57.442889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDA as ready",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:57.432666+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eda has been classified as Red List (Low Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:53.872391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDA were changed from ECTODERMAL DYSPLASIA TYPE 1; TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 to Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100; MONDO:0010585",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:41.665701+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDA were set to ",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:14.731790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDA as Red List (low evidence)",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:14.722052+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eda has been classified as Red List (Low Evidence).",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T18:29:02.984836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2021-11-23T14:16:39.791231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.684",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EDNRA",
"entity_type": "gene"
},
{
"created": "2021-11-23T11:13:37.481699+11:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.59",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: TNPO3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23667635, 23543484, 31071488, 31192305; Phenotypes: Limb-girdle muscular dystrophy 2 (MIM#608423; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TNPO3",
"entity_type": "gene"
},
{
"created": "2021-11-23T10:43:53.289506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.684",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: None; Publications: 29694819, 19921643, 18510547, 9507389; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100, MONDO:0010585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "EDA",
"entity_type": "gene"
}
]
}