HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1458",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1456",
"results": [
{
"created": "2020-12-29T18:45:46.123045+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCARF2 were set to ",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:45:22.955387+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:44:53.811784+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:43:57.105738+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARF2 as ready",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:43:57.094928+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarf2 has been classified as Green List (High Evidence).",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:43:54.598746+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:43:31.527832+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCARF2 were set to ",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:43:04.232064+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:42:35.997992+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:36:00.262937+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-29T18:33:41.397621+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYAA as ready",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:33:41.386915+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryaa has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:31:57.207151+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRYAA as Amber List (moderate evidence)",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:31:57.197106+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cryaa has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:31:28.036701+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYAA was added\ngene: CRYAA was added to Eye Anterior Segment Abnormalities. Sources: Expert Review\nMode of inheritance for gene: CRYAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CRYAA were set to 32791987\nPhenotypes for gene: CRYAA were set to Anterior segment dysgenesis\nMode of pathogenicity for gene: CRYAA was set to Other\nReview for gene: CRYAA was set to AMBER\nAdded comment: Variants in this gene are associated with cataract.\r\n\r\nTwo unrelated individuals reported with elongation variants and a more complex eye phenotype, including bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia. \nSources: Expert Review",
"entity_name": "CRYAA",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:29:22.081531+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:29:19.824599+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX3 as ready",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:29:19.813698+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx3 has been classified as Green List (High Evidence).",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:29:01.050654+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:27:47.052147+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX3 were set to ",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:27:19.526493+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:26:50.109005+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9620774, 29405783, 24555714; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:23:02.837452+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:23:02.822982+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:22:58.529679+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A3 as Amber List (moderate evidence)",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:22:58.521847+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:22:28.840159+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL6A3 were set to 33304895\nPhenotypes for gene: COL6A3 were set to Peters anomaly\nReview for gene: COL6A3 was set to AMBER\nAdded comment: Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. \nSources: Literature",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:19:24.942297+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX2 as ready",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:19:24.930155+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx2 has been classified as Green List (High Evidence).",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:19:21.914041+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600; Axenfeld-Rieger syndrome, type 1, MIM# 180500",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:18:54.963652+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX2 were set to ",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:18:28.267462+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:17:59.781139+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32400113, 31341655, 31185933, 30457409; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600, Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:15:24.791768+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:15:24.768331+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:15:21.916512+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:14:54.681347+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R1 were set to ",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:14:26.299993+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:13:56.742817+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23810378, 23810379, 23810382; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:12:01.789161+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:12:01.777397+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:11:56.864938+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR1 were changed from to Gillespie syndrome, MIM# 206700",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:11:29.016852+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to ",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:11:01.558572+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:10:31.053948+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:06:59.396900+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:06:59.378526+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Green List (High Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:06:56.522792+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:06:29.103809+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:05:34.416444+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:05:04.965520+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXE3: Added comment: Bi-allelic variants in this gene are associated with a range of eye phenotypes, including sclerocornea, aphakia, and microphthalmia, glaucoma, iris coloboma.; Changed publications: 16826526, 27218149, 32499604, 29878917",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T17:58:14.536764+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:39:57.310321+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXC1 as ready",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:39:57.298750+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Green List (High Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:39:53.232738+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC1 were changed from to Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631; Axenfeld-Rieger syndrome, type 3, MIM# 602482",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:39:22.700073+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:38:51.437131+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631, Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:37:24.751475+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA8 as ready",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:37:24.737805+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja8 has been classified as Green List (High Evidence).",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:37:18.067657+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJA8 as Green List (high evidence)",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:37:18.056910+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja8 has been classified as Green List (High Evidence).",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:36:48.612462+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA8 was added\ngene: GJA8 was added to Eye Anterior Segment Abnormalities. Sources: Expert Review\nMode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GJA8 were set to 30498267; 29464339; 32499604\nPhenotypes for gene: GJA8 were set to Cataract 1, multiple types, MIM# 116200; Microphthalmia; Anterior segment dysgenesis\nReview for gene: GJA8 was set to GREEN\nAdded comment: At least 7 individuals reported with microphthalmia as well as cataract and a range of other ocular anomalies including anterior segment dysgenesis. \nSources: Expert Review",
"entity_name": "GJA8",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:33:19.705386+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP1B1 as ready",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:33:19.693653+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp1b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:33:16.173036+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:32:47.068289+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP1B1 were set to ",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:32:18.524777+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:31:47.207219+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32499604, 32224865; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:23:23.416223+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP4 as ready",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:23:23.394063+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp4 has been classified as Green List (High Evidence).",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:23:20.992417+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932; Anterior segment dysgenesis; Peter's anomaly",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:22:53.086710+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP4 were set to ",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:21:59.829391+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:21:31.218542+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMP4: Changed phenotypes: Microphthalmia, syndromic 6, MIM# 607932, Anterior segment dysgenesis, Peter's anomaly",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T16:21:11.361869+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32224865, 31053785; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:08:04.040955+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GLCT as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:08:04.032362+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:08:01.096972+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GLCT were changed from to Peters-plus syndrome, MIM# 261540",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:07:34.462374+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GLCT were set to ",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:06:52.499334+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:06:22.820881+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18798333, 19796186, 32533185, 32204707, 31795264; Phenotypes: Peters-plus syndrome, MIM# 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-12-29T14:03:08.442970+11:00",
"panel_name": "Eye Anterior Segment Abnormalities",
"panel_id": 43,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-29T13:32:07.914102+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome MIM#606145 to Arterial tortuosity syndrome MIM#208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:31:33.100729+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: None",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:29:52.167257+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, MIM#164780 to Shprintzen-Goldberg syndrome, MIM#182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:29:18.663718+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SKI: Changed rating: GREEN; Changed phenotypes: Shprintzen-Goldberg syndrome, MIM#182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:27:54.668932+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKG1 were changed from Aortic aneurysm, familial thoracic 8, MIM#176894 to Aortic aneurysm, familial thoracic 8, MIM#615436",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:27:13.685555+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM#615436; Mode of inheritance: None",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:26:03.294469+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCGF2 were changed from Turnpenny-Fry syndrome, MIM#600346 to Turnpenny-Fry syndrome, MIM#618371",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:25:27.063092+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCGF2: Changed phenotypes: Turnpenny-Fry syndrome, MIM#618371",
"entity_name": "PCGF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:23:32.729899+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, MIM#600922 to Aortic aneurysm, familial thoracic 7, MIM#613780",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:22:57.863287+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: None",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:21:26.502830+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 2, MIM#120190 to Ehlers-Danlos syndrome, classic type, 2, MIM#130010",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:20:40.944925+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL5A2: Changed rating: GREEN",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-12-29T13:20:33.428576+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL5A2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM#130010; Mode of inheritance: None",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:49:37.166189+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:49:21.734099+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:49:02.691188+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:48:28.035238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-12-29T12:48:07.758695+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement",
"entity_name": "YIF1B",
"entity_type": "gene"
}
]
}