{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1458","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}