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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1795",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1793",
"results": [
{
"created": "2020-05-21T12:51:02.418582+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB6 was added\ngene: ABCB6 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCB6 were set to 22226084; 24281366\nPhenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7 MIM#614497\nReview for gene: ABCB6 was set to RED\nAdded comment: Segregation of a missense variant reported in a single Chinese family. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma. The missenses p.Ala57Thr and p.Arg192Gln reported in cases with coloboma are too common in gnomAD for a dominant condition. No convincing evidence reported since the 2012 publication. \nSources: Literature",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:50:08.694941+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D1 as Amber List (moderate evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:50:08.686343+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:43:49.513731+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24886560, 21493627, 25920555; Phenotypes: Meckel syndrome 9, MIM# 614209, Joubert syndrome 27, MIM# 617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:40:55.444982+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D1 as ready",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:40:55.431306+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:40:52.704703+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:40:13.413033+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D1 were set to ",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:39:44.807657+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:39:17.174953+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D1 as Amber List (moderate evidence)",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:39:17.164676+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:17:55.904689+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.57",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 9926316, 27066571; Phenotypes: L1CAM-related disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:11:19.042517+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOPORS as ready",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:11:19.029602+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Green List (High Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:11:07.242009+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOPORS as Green List (high evidence)",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:11:07.232861+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: topors has been classified as Green List (High Evidence).",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:08:15.921906+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BBIP1: Changed publications: 24026985, 32055034",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:03:32.963568+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBIP1 were set to 24026985",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:02:50.781402+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BBIP1: Added comment: Additional family reported.; Changed publications: 24026985, 32055034V",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:02:18.121721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:01:58.418634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBIP1 were set to ",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:01:38.403594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:01:17.086807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BBIP1: Added comment: Additional family reported.; Changed publications: 24026985, 32055034",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T12:00:16.127752+10:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBIP1 were set to 24026985",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T11:59:15.165451+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBIP1 were set to 24026985",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T11:52:02.589833+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.57",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28377535; Phenotypes: GRIN2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN2B",
"entity_type": "gene"
},
{
"created": "2020-05-21T11:31:56.822417+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.18",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141890; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2 605479 AR, Cholestasis, progressive familial intrahepatic 2 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-05-21T11:29:55.302169+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.57",
"user_name": "Lauren Akesson",
"item_type": "entity",
"text": "reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29365063; Phenotypes: GRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2020-05-21T09:00:08.628465+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TULP1 as ready",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T09:00:08.618538+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp1 has been classified as Green List (High Evidence).",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T09:00:03.158451+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TULP1 as Green List (high evidence)",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2020-05-21T09:00:03.146430+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp1 has been classified as Green List (High Evidence).",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:47:36.234177+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Amber List (moderate evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:47:36.223436+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:47:04.797707+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNF423: Changed rating: AMBER",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:46:21.717953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Amber List (moderate evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:46:21.705740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:46:00.117309+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNF423: Changed rating: AMBER",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:45:19.527961+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF423 as ready",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:45:19.514941+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:45:14.511839+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Amber List (moderate evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:45:14.497207+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:43:29.438907+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF423 as Amber List (moderate evidence)",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:43:29.426525+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf423 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:09:39.904475+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPD1L as ready",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:09:39.896048+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:09:37.143866+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPD1L were changed from to Brugada syndrome 2, MIM# 611777",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:09:13.704022+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPD1L were set to ",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:08:49.726416+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:08:22.878166+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPD1L as Amber List (moderate evidence)",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:08:22.866011+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:07:56.515238+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: GPD1L.",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:07:48.099790+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 17967977, 19666841; Phenotypes: Brugada syndrome 2, MIM# 611777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:06:44.753923+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPD1L as ready",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:06:44.749734+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Rated as DISPUTED by ClinGen.",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:06:44.718188+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:06:35.701372+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPD1L were changed from to Brugada syndrome 2, MIM# 611777",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:06:10.983133+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPD1L were set to ",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:05:37.840680+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:05:12.503276+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: GPD1L.",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:04:53.409234+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPD1L as Amber List (moderate evidence)",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:04:53.393194+10:00",
"panel_name": "Brugada syndrome",
"panel_id": 60,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpd1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:03:55.816364+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1B as ready",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:03:55.807425+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1b has been classified as Green List (High Evidence).",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:03:52.931357+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20 (MIM#615973)",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:03:03.290675+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POC1B were set to ",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:02:32.870666+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POC1B",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:01:22.885859+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGR as ready",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:01:22.873590+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgr has been classified as Green List (High Evidence).",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:01:20.382520+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029)",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:00:52.514409+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGR were set to ",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-20T21:00:17.098489+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:58:38.227041+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS1 as ready",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:58:38.213370+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs1 has been classified as Green List (High Evidence).",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:58:33.685266+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:58:04.802183+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS1 were set to ",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:57:35.931646+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:57:06.218627+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:56:25.489096+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS1 as ready",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:56:25.476534+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs1 has been classified as Green List (High Evidence).",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:56:22.483825+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:55:53.494008+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS1 were set to ",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:55:22.239604+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:54:46.881028+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:53:50.547881+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS1 as ready",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:53:50.534033+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs1 has been classified as Green List (High Evidence).",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:53:46.517038+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:53:14.310056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS1 were set to ",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:52:40.099358+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:52:06.815961+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26842493, 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome (MIM# 615009); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:50:55.419573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS1 as ready",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:50:55.410745+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs1 has been classified as Green List (High Evidence).",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:50:48.060437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS1 were changed from to Schuurs-Hoeijmakers syndrome (MIM# 615009)",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:50:29.440456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS1 were set to ",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:50:05.234786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:49:20.786899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC15A4 as ready",
"entity_name": "SLC15A4",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:49:20.775375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc15a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC15A4",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:49:11.875810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC15A4 were set to ",
"entity_name": "SLC15A4",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:48:51.755599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC15A4 as Red List (low evidence)",
"entity_name": "SLC15A4",
"entity_type": "gene"
},
{
"created": "2020-05-20T20:48:51.740412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc15a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC15A4",
"entity_type": "gene"
}
]
}