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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=338",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=336",
"results": [
{
"created": "2024-11-28T14:08:03.081498+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.607",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: bin1 has been classified as Green List (High Evidence).",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:07:56.651462+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.607",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive, 255200 (3) to Centronuclear myopathy 2, MIM# 255200",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:07:40.610442+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.606",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: BIN1 were set to ",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:06:56.976555+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.605",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FREM2 as ready",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:06:56.964762+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.605",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: frem2 has been classified as Green List (High Evidence).",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:06:53.042130+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.605",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FREM2 were set to ",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:06:13.850530+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.604",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: BMPER as ready",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:06:13.832889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.604",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: bmper has been classified as Green List (High Evidence).",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:06:07.923812+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.604",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: BMPER were set to ",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:03:55.628599+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.603",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ATP6AP1 as ready",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:03:55.609973+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.603",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:03:51.922399+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.603",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, 300972 (3), X-linked recessive to Immunodeficiency 47, MIM#300972",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:03:37.103228+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.602",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ATP6AP1 were set to ",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:02:50.994480+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.601",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: BBS5 as ready",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:02:50.980268+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.601",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: bbs5 has been classified as Green List (High Evidence).",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:02:48.919236+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.601",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, MIM#615983 to Bardet-Biedl syndrome 5, MIM#615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:02:46.399073+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.600",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, 615983 (3) to Bardet-Biedl syndrome 5, MIM#615983",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:02:26.209354+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.599",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: BBS5 were set to ",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:01:51.060976+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.598",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: BCKDHA as ready",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:01:51.050774+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.598",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: bckdha has been classified as Green List (High Evidence).",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:01:47.260697+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.598",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease, type Ia, 248600 (3) to Maple syrup urine disease, type Ia, MIM# 248600",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:01:31.646044+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.597",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: BCKDHA were set to ",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:00:46.335312+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.596",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CA2 as ready",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:00:46.323572+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.596",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ca2 has been classified as Green List (High Evidence).",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:00:42.614768+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.596",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3) to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:00:36.881836+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ELN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T14:00:22.392879+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.595",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CA2 were set to ",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2024-11-28T14:00:15.356962+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FBN1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:59:40.603186+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.594",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CCDC115 as ready",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2024-11-28T13:59:40.575295+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.594",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ccdc115 has been classified as Green List (High Evidence).",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2024-11-28T13:59:35.963005+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.594",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC115 were changed from Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIo, MIM#616828",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2024-11-28T13:59:18.476662+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.593",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CCDC115 were set to ",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2024-11-28T13:58:06.411169+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FLT4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:57:18.090705+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301510, 12598898, 22772371, 34795948; Phenotypes: Marfan syndrome MONDO:0007947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-11-28T13:47:41.911685+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.102",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:FOXF1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:46:49.108771+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.101",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:GLA from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:46:37.692271+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.100",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:GLMN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:46:23.304847+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.99",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:GNAQ from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:46:12.840220+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.98",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:HLA-B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:44:51.434906+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.97",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:HLA-DQB1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:44:29.931806+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.96",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:HLA-DRB1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:44:16.526814+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.95",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:HTRA1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:44:01.341989+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.94",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:IL6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:43:36.521419+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.93",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:JAG1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:43:22.734902+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.92",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:KDR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:43:10.447706+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.91",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:LAMB1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:41:22.179427+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:LAMC3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:40:56.809966+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:LARGE1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:39:44.036293+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.88",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:MEF2C from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:39:22.325210+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.87",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:NDE1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:39:09.127655+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.86",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:NIN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:38:28.197350+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.85",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:NOTCH3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:37:30.403103+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.84",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:OCLN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:26:08.857383+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.83",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:OPHN1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:25:55.643431+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.82",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PAFAH1B1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:24:23.319678+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.81",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PIK3R2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:21:37.382674+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.80",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:POMGNT1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:20:51.435680+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.79",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:POMT1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:20:35.463422+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.78",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:POMT2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:11:12.629252+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.77",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:PTEN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:10:45.774542+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:RBBP8 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:10:30.625452+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:RELN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T13:10:16.342021+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:RTTN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T12:20:16.579282+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.592",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: None",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2024-11-28T12:08:55.845441+11:00",
"panel_name": "Pneumothorax",
"panel_id": 3960,
"panel_version": "0.11",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301667, 24591672, 22610159, 19420820; Phenotypes: Ehlers-Danlos syndrome, vascular type MONDO:0017314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2024-11-28T11:07:11.466548+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-11-28T10:41:26.113507+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:SMAD3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:41:09.917753+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:SMARCAL1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:40:52.558078+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:SRPX2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:40:32.966805+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:STAMBP from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:40:17.803550+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TEK from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:39:57.820280+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TGFB2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:39:40.515059+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TGFBR1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:39:17.775813+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TGFBR2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:38:42.279019+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TMEM5 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:38:20.544018+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TRAIP from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:37:55.820288+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBA1A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:37:43.208856+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBA8 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:37:27.844342+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBB from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:37:13.477548+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBB2A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:36:26.497739+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBB2B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:35:55.956567+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBB3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:35:44.646122+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:TUBG1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-28T10:35:32.696690+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:VLDLR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-27T16:07:47.567634+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:WDR62 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-27T16:07:29.286746+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:DNA2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-27T16:07:17.222006+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ATP7A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-27T16:04:24.305205+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PKD1 as Green List (high evidence)",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-11-27T16:04:24.291559+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-11-27T16:03:43.382860+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPHB4 as Green List (high evidence)",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2024-11-27T16:03:43.357145+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ephb4 has been classified as Green List (High Evidence).",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2024-11-27T15:34:14.188469+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.27",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified as Definitive by ClinGen GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746\r\n\r\nMechanism of disease is GoF. \r\nHeterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334; to: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - https://search.clinicalgenome.org/CCID:005746\r\n\r\nMechanism of disease is GoF. \r\nHeterozygous LoF variants in this gene are associated with low levels of LDL cholesterol - PMID: 15654334",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-11-27T15:34:01.106240+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.27",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24404629, 16577715, 15654334; Phenotypes: hypercholesterolemia, autosomal dominant, 3 MONDO:0011369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-11-27T15:30:19.479581+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.27",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24404629; Phenotypes: hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-11-27T15:11:48.980092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2151",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: Probable 2nd internal VCGS case 24W004707 with intellectual disability and seizures and a de novo Gly226Arg variant.; to: Probable 2nd internal VCGS case with intellectual disability and seizures and a de novo Gly226Arg variant.",
"entity_name": "SLC35F1",
"entity_type": "gene"
},
{
"created": "2024-11-27T09:50:40.420070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PIEZO1.",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2024-11-27T06:17:39.134573+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2024-11-27T06:16:52.697517+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2024-11-27T06:16:25.438491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM#\t621016",
"entity_name": "WDR83OS",
"entity_type": "gene"
},
{
"created": "2024-11-27T06:15:51.618941+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia to Neurodevelopmental disorder with variable familial hypercholanemia, MIM#\t621016",
"entity_name": "WDR83OS",
"entity_type": "gene"
}
]
}