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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1992",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1990",
"results": [
{
"created": "2020-01-11T18:37:32.197312+11:00",
"panel_name": "Congenital Heart Defect_VCGS",
"panel_id": 76,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-01-11T18:37:32.185926+11:00",
"panel_name": "Congenital Heart Defect_VCGS",
"panel_id": 76,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Red List (Low Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-01-11T18:37:19.549494+11:00",
"panel_name": "Congenital Heart Defect_VCGS",
"panel_id": 76,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEF2C was added\ngene: MEF2C was added to Congenital Heart Defect_VCGS. Sources: Expert list\nMode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEF2C were set to 29104469; 22498567; 26811383\nPhenotypes for gene: MEF2C were set to Congenital heart disease\nReview for gene: MEF2C was set to RED\nAdded comment: Two families described and an animal model. This is very low level of evidence considering the prevalence of CHD. \nSources: Expert list",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:41:47.894375+11:00",
"panel_name": "Congenital Heart Defect_VCGS",
"panel_id": 76,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRX4 as ready",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:41:47.882944+11:00",
"panel_name": "Congenital Heart Defect_VCGS",
"panel_id": 76,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irx4 has been classified as Red List (Low Evidence).",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:41:40.300448+11:00",
"panel_name": "Congenital Heart Defect_VCGS",
"panel_id": 76,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRX4 was added\ngene: IRX4 was added to Congenital Heart Defect_VCGS. Sources: Expert list\nMode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRX4 were set to 21544582\nPhenotypes for gene: IRX4 were set to Ventricular septal defect\nReview for gene: IRX4 was set to RED\nAdded comment: Two individuals with novel missense variants identified in a large cohort in 2011. \nSources: Expert list",
"entity_name": "IRX4",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:31:36.492257+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:31:36.481148+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:31:31.984620+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Amber List (moderate evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:31:31.973339+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:31:02.088863+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Ciliopathies_VCGS. Sources: Expert list\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to 27486776\nPhenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119\nReview for gene: IFT74 was set to AMBER\nAdded comment: Single family plus functional data. \nSources: Expert list",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:25:26.480410+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8orf37 as ready",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:25:26.468708+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Green List (High Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:25:22.316557+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8orf37 as Green List (high evidence)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:25:22.305086+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Green List (High Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:24:53.692488+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8orf37 was added\ngene: C8orf37 was added to Ciliopathies_VCGS. Sources: Expert list\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C8orf37 were set to 27008867; 26854863; 22177090; 25113443; 26865426; 25802487\nPhenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500\nReview for gene: C8orf37 was set to GREEN\nAdded comment: Two individuals reported with BBS phenotype; at least 7 families with retinal ciliopathy (RP, cone-rod dystrophy) \nSources: Expert list",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:20:04.477377+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBIP1 as ready",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:20:04.465069+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:20:00.715241+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBIP1 as Amber List (moderate evidence)",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:20:00.702612+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:19:31.440792+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBIP1 was added\ngene: BBIP1 was added to Ciliopathies_VCGS. Sources: Expert list\nMode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBIP1 were set to 24026985\nPhenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995\nReview for gene: BBIP1 was set to AMBER\nAdded comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided. \nSources: Expert list",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:14:14.780849+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALMS1 as ready",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:14:14.769485+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Green List (High Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:14:11.401949+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:13:42.659230+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:12:44.651007+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:12:44.639663+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:12:41.216299+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:12:18.123740+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:11:54.583051+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:11:30.441470+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Amber List (moderate evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:11:30.430094+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:10:11.175997+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT27 as ready",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:10:11.164031+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:10:06.498831+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT27 as Green List (high evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:10:06.486480+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:09:19.000420+11:00",
"panel_name": "Ciliopathies_VCGS",
"panel_id": 84,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT27 was added\ngene: IFT27 was added to Ciliopathies_VCGS. Sources: Expert list\nMode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296\nPhenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996\nReview for gene: IFT27 was set to GREEN\nAdded comment: Three families; two with the same variant; functional data. \nSources: Expert list",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T17:04:16.457882+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:46:41.763458+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDPCP as ready",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:46:41.751926+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Red List (Low Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:46:36.057363+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:46:12.881978+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDPCP were set to ",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:45:49.984251+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:45:26.339059+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDPCP as Red List (low evidence)",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:45:26.327391+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdpcp has been classified as Red List (Low Evidence).",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T13:44:51.282871+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDPCP",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:50:02.286925+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT27 as ready",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:50:02.274700+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:49:58.532976+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT27 as Green List (high evidence)",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:49:58.520997+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift27 has been classified as Green List (High Evidence).",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:49:31.173497+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT27 was added\ngene: IFT27 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list\nMode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296\nPhenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996\nReview for gene: IFT27 was set to GREEN\nAdded comment: Three families; two with the same variant; functional data. \nSources: Expert list",
"entity_name": "IFT27",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:42:34.632101+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8orf37 as ready",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:42:34.620283+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:42:31.030693+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8orf37 as Amber List (moderate evidence)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:42:31.019389+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:41:55.568426+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8orf37 was added\ngene: C8orf37 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C8orf37 were set to 27008867; 26854863\nPhenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406\nReview for gene: C8orf37 was set to AMBER\nAdded comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well. \nSources: Expert list",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:36:38.189041+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBIP1 as ready",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:36:38.177352+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:36:25.184741+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBIP1 as Amber List (moderate evidence)",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:36:25.171831+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-11T12:35:42.953884+11:00",
"panel_name": "Bardet Biedl syndrome_VCGS",
"panel_id": 53,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBIP1 was added\ngene: BBIP1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list\nMode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BBIP1 were set to 24026985\nPhenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995\nReview for gene: BBIP1 was set to AMBER\nAdded comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided. \nSources: Expert list",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-01-10T18:06:42.871321+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGMO were set to 31555905",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T18:05:03.548198+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGMO were set to 31555905",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T18:04:20.899639+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGMO as ready",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T18:04:20.894282+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Three unrelated families and functional data.",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T18:04:20.850418+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T18:03:02.289705+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGMO were set to 31555905",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:05:12.583962+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDH1 as ready",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:05:12.572367+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:05:05.281690+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDH1 as Amber List (moderate evidence)",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:05:05.268202+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-01-10T17:04:47.499057+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MDH1 was added\ngene: MDH1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDH1 were set to 31538237\nPhenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability\nReview for gene: MDH1 was set to AMBER\nAdded comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID; some functional data. \nSources: Literature",
"entity_name": "MDH1",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:58:59.957107+11:00",
"panel_name": "Hydrocephalus/Ventriculomegaly_VCGS",
"panel_id": 115,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISLR2 as ready",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:58:59.945930+11:00",
"panel_name": "Hydrocephalus/Ventriculomegaly_VCGS",
"panel_id": 115,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: islr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:58:56.896697+11:00",
"panel_name": "Hydrocephalus/Ventriculomegaly_VCGS",
"panel_id": 115,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ISLR2 as Amber List (moderate evidence)",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:58:56.884795+11:00",
"panel_name": "Hydrocephalus/Ventriculomegaly_VCGS",
"panel_id": 115,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: islr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:58:27.982379+11:00",
"panel_name": "Hydrocephalus/Ventriculomegaly_VCGS",
"panel_id": 115,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISLR2 was added\ngene: ISLR2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Literature\nMode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISLR2 were set to 30483960\nPhenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension\nAdded comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus \nSources: Literature",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:53:02.087908+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISLR2 as ready",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:53:02.074792+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: islr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:52:50.933096+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ISLR2 as Amber List (moderate evidence)",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:52:50.920328+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: islr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:52:33.660343+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISLR2 was added\ngene: ISLR2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISLR2 were set to 30483960\nPhenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension\nReview for gene: ISLR2 was set to AMBER\nAdded comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus \nSources: Literature",
"entity_name": "ISLR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:48:19.711581+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.766",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: AGMO as ready",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:48:19.699498+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.766",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:48:04.912447+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.766",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: AGMO as Green List (high evidence)",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:48:04.899143+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.766",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:47:38.735574+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.765",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: AGMO was added\ngene: AGMO was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGMO were set to 31555905\nPhenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy\nPenetrance for gene: AGMO were set to Complete\nReview for gene: AGMO was set to GREEN\nAdded comment: biallelic LOF and missense reported \nSources: Literature",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:38:41.504403+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.68",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: AGMO as Green List (high evidence)",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:38:41.497987+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.68",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:38:11.059588+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.67",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: AGMO as Green List (high evidence)",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:38:11.052656+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.67",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:38:10.371535+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.66",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: AGMO as ready",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:38:10.362308+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.66",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Red List (Low Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:37:36.326682+11:00",
"panel_name": "Microcephaly_VCGS",
"panel_id": 138,
"panel_version": "0.66",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: AGMO was added\ngene: AGMO was added to Microcephaly_VCGS. Sources: Literature\nMode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGMO were set to 31555905\nPhenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy\nPenetrance for gene: AGMO were set to Complete\nReview for gene: AGMO was set to GREEN\nAdded comment: biallelic LOF and missense variants reported \nSources: Literature",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:34:41.246404+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.179",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: AGMO as ready",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:34:41.239290+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.179",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:34:36.211222+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.179",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: AGMO as Green List (high evidence)",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:34:36.204343+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.179",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: agmo has been classified as Green List (High Evidence).",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:33:36.022231+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.178",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: AGMO was added\ngene: AGMO was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGMO were set to 31555905\nPhenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy\nPenetrance for gene: AGMO were set to Complete\nReview for gene: AGMO was set to GREEN\nAdded comment: biallelic LOF and missense variants reported \nSources: Literature",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2020-01-10T16:30:04.515865+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1537",
"user_name": "Sue White",
"item_type": "entity",
"text": "Marked gene: AGMO as ready",
"entity_name": "AGMO",
"entity_type": "gene"
}
]
}