{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1739","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1737","results":[{"created":"2020-07-08T16:31:55.342131+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NF2 as ready","entity_name":"NF2","entity_type":"gene"},{"created":"2020-07-08T16:31:55.334400+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nf2 has been classified as Green List (High Evidence).","entity_name":"NF2","entity_type":"gene"},{"created":"2020-07-08T16:31:52.825249+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NF2 were changed from  to Neurofibromatosis, type 2 (MIM# 101000)","entity_name":"NF2","entity_type":"gene"},{"created":"2020-07-08T16:31:30.986520+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NF2","entity_type":"gene"},{"created":"2020-07-08T16:30:38.391140+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.191","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Classified as \"definitive\" for Norrie Disease by ClinGen working group (https://search.clinicalgenome.org/kb/gene-validity/9611); to: Classified as \"definitive\" for Norrie Disease by ClinGen working group (https://search.clinicalgenome.org/kb/gene-validity/9611)\r\n\r\nProgressive cataract is a feature of Norrie Disease (Genereviews, OMIM)","entity_name":"NDP","entity_type":"gene"},{"created":"2020-07-08T16:30:36.791680+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDP as ready","entity_name":"NDP","entity_type":"gene"},{"created":"2020-07-08T16:30:36.781892+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndp has been classified as Green List (High Evidence).","entity_name":"NDP","entity_type":"gene"},{"created":"2020-07-08T16:30:34.387734+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDP were changed from  to Norrie disease (MIM# 310600)","entity_name":"NDP","entity_type":"gene"},{"created":"2020-07-08T16:30:12.608003+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDP","entity_type":"gene"},{"created":"2020-07-08T16:29:18.348919+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKTN as ready","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:29:18.338998+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Amber List (Moderate Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:29:16.500686+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKTN were changed from  to Limb Girdle Muscular Dystrophy with No Mental Retardation; Congenital Cataract","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:28:51.442718+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FKTN were set to ","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:28:30.895323+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:28:09.980019+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKTN as Amber List (moderate evidence)","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:28:09.973433+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Amber List (Moderate Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T16:25:30.606021+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN1 as ready","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-07-08T16:25:30.598351+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn1 has been classified as Green List (High Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-07-08T16:25:26.832567+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN1 were changed from  to Marfan syndrome, MIM#\t154700; Weill-Marchesani syndrome 2, dominant, MIM#\t608328","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-07-08T16:24:34.181079+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-07-08T16:23:55.993416+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESCO2 as ready","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:23:55.990152+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap.","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:23:55.965008+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esco2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:23:34.239567+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.147","user_name":"Dean Phelan","item_type":"entity","text":"gene: PYCR1 was added\ngene: PYCR1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR1 were set to PMID: 19648921; 4076251; 22052856; 19576563; 19648921; 9648921; 22052856; 28294978; 27756598\nReview for gene: PYCR1 was set to GREEN\ngene: PYCR1 was marked as current diagnostic\nAdded comment: Variants in this gene are associated with Cutis Laxa:\r\nCutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.\r\n\r\nGEL PanelApp: Green in EDS panel - clinical features overlapping EDS\r\nCutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856\r\nCutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR\r\n\r\nPMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability. \nSources: Literature","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:23:13.791874+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ESCO2 as ready","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:23:13.784153+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esco2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:23:10.227751+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ESCO2 as Amber List (moderate evidence)","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:23:10.216647+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: esco2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T16:21:47.441292+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NACC1 as ready","entity_name":"NACC1","entity_type":"gene"},{"created":"2020-07-08T16:21:47.430832+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nacc1 has been classified as Green List (High Evidence).","entity_name":"NACC1","entity_type":"gene"},{"created":"2020-07-08T16:21:44.904198+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NACC1 were changed from  to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)","entity_name":"NACC1","entity_type":"gene"},{"created":"2020-07-08T16:21:19.745991+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NACC1","entity_type":"gene"},{"created":"2020-07-08T16:16:51.680456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3278","user_name":"Dean Phelan","item_type":"entity","text":"changed review comment from: Aortopathy/Connective tissue review\r\n\r\nVariants in this gene are associated with Cutis Laxa:\r\nCutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.\r\n\r\nGEL PanelApp: Green in EDS panel - clinical features overlapping EDS\r\nCutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856\r\nCutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR\r\n\r\nPMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability.; to: Aortopathy/Connective tissue review\r\n\r\nVariants in this gene are associated with Cutis Laxa:\r\nCutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.\r\n\r\nGEL PanelApp: Green in EDS panel - clinical features overlapping EDS\r\nCutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856\r\nCutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR\r\n\r\nPMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability.","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:16:14.120133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3278","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PYCR1 as ready","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:16:14.111772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3278","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pycr1 has been classified as Green List (High Evidence).","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:16:06.206159+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3278","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: PYCR1 were changed from  to cutis laxa","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:15:47.664812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3277","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on publications: 19648921; 4076251; 22052856; 19576563; 19648921; 9648921; 22052856; 28294978; 27756598","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:15:47.637317+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3277","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: PYCR1 were set to ","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:15:27.711718+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"WNT4","entity_type":"gene"},{"created":"2020-07-08T16:15:20.843280+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3276","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: PYCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYCR1","entity_type":"gene"},{"created":"2020-07-08T16:14:25.154452+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIEZO2 as ready","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-07-08T16:14:25.143001+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piezo2 has been classified as Amber List (Moderate Evidence).","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-07-08T16:14:17.460199+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIEZO2 as Amber List (moderate evidence)","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-07-08T16:14:17.453322+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piezo2 has been classified as Amber List (Moderate Evidence).","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-07-08T16:11:44.742285+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RIN2 as ready","entity_name":"RIN2","entity_type":"gene"},{"created":"2020-07-08T16:11:44.732055+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rin2 has been classified as Green List (High Evidence).","entity_name":"RIN2","entity_type":"gene"},{"created":"2020-07-08T16:11:42.039312+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RIN2 as Green List (high evidence)","entity_name":"RIN2","entity_type":"gene"},{"created":"2020-07-08T16:11:42.028811+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rin2 has been classified as Green List (High Evidence).","entity_name":"RIN2","entity_type":"gene"},{"created":"2020-07-08T16:10:44.210416+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.145","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: COL6A2 as ready","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-07-08T16:10:44.200165+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.145","user_name":"Seb Lunke","item_type":"entity","text":"Gene: col6a2 has been classified as Amber List (Moderate Evidence).","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-07-08T16:10:43.908636+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL6A3 as ready","entity_name":"COL6A3","entity_type":"gene"},{"created":"2020-07-08T16:10:43.898673+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.145","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":"2020-07-08T16:10:39.713892+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL6A3 as Amber List (moderate evidence)","entity_name":"COL6A3","entity_type":"gene"},{"created":"2020-07-08T16:10:39.706813+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.145","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":"2020-07-08T16:10:17.299826+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.144","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: COL6A2 as Amber List (moderate evidence)","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-07-08T16:10:17.289209+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.144","user_name":"Seb Lunke","item_type":"entity","text":"Gene: col6a2 has been classified as Amber List (Moderate Evidence).","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-07-08T16:10:13.468243+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A3","entity_type":"gene"},{"created":"2020-07-08T16:09:49.536377+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.143","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-07-08T16:09:36.459705+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LTBP4 as ready","entity_name":"LTBP4","entity_type":"gene"},{"created":"2020-07-08T16:09:36.451843+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp4 has been classified as Green List (High Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2020-07-08T16:09:33.683913+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LTBP4 as Green List (high evidence)","entity_name":"LTBP4","entity_type":"gene"},{"created":"2020-07-08T16:09:33.675911+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp4 has been classified as Green List (High Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2020-07-08T16:08:59.116136+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GORAB as ready","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-07-08T16:08:59.108182+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gorab has been classified as Amber List (Moderate Evidence).","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-07-08T16:08:56.304154+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GORAB as Amber List (moderate evidence)","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-07-08T16:08:56.296303+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gorab has been classified as Amber List (Moderate Evidence).","entity_name":"GORAB","entity_type":"gene"},{"created":"2020-07-08T16:07:43.683702+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL6A1 as ready","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-07-08T16:07:43.676375+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-07-08T16:07:38.816245+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL6A1 as Amber List (moderate evidence)","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-07-08T16:07:38.806211+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a1 has been classified as Amber List (Moderate Evidence).","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-07-08T16:07:14.562683+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-07-08T16:03:55.489814+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1A as ready","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T16:03:55.482010+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T16:03:32.028325+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1A as Green List (high evidence)","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T16:03:32.018315+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1a has been classified as Green List (High Evidence).","entity_name":"ATP6V1A","entity_type":"gene"},{"created":"2020-07-08T16:02:12.338174+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796; Phenotypes: Nance-Horan syndrome (MIM#  302350); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NHS","entity_type":"gene"},{"created":"2020-07-08T15:48:42.631157+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM#  101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NF2","entity_type":"gene"},{"created":"2020-07-08T15:42:27.394832+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.34","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24549039, 27899157, 31962012, 12223418; Phenotypes: 46XY sex reversal 9 (MIM#616067); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ZFPM2","entity_type":"gene"},{"created":"2020-07-08T15:41:36.694390+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease (MIM# 310600); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDP","entity_type":"gene"},{"created":"2020-07-08T14:51:04.341314+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 18177472, 17878207; Phenotypes: Limb Girdle Muscular Dystrophy with No Mental Retardation, Congenital Cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-07-08T14:40:00.443778+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: 26833294; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-07-08T14:26:39.221303+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-07-08T14:14:56.987769+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.180","user_name":"Seb Lunke","item_type":"entity","text":"gene: ESCO2 was added\ngene: ESCO2 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESCO2 were set to 19574259\nPhenotypes for gene: ESCO2 were set to Craniofacial abnormalities; Developmental Delay; Corneal opacities; Growth retardation; Limb abnormalities; Roberts syndrome 238300\nReview for gene: ESCO2 was set to AMBER\nAdded comment: Corneal opacities described in 13/36 cases with Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2. \nSources: Literature","entity_name":"ESCO2","entity_type":"gene"},{"created":"2020-07-08T14:03:21.325934+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2744","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCB1 as ready","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:03:21.316927+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2744","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcb1 has been classified as Green List (High Evidence).","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:03:18.256586+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2744","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCB1 were changed from  to Epileptic encephalopathy, early infantile, 12 (MIM#613722)","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:02:53.143229+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2743","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCB1 were set to ","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:02:27.452288+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2742","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PLCB1.","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:02:24.656794+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2742","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:01:57.754125+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCB1 as ready","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:01:57.735798+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcb1 has been classified as Green List (High Evidence).","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:01:29.913523+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.744","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCB1 were changed from  to Epileptic encephalopathy, early infantile, 12 (MIM#613722)","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:01:08.408341+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.743","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCB1 were set to ","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:00:46.938324+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.742","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T14:00:26.368412+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.741","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PLCB1.","entity_name":"PLCB1","entity_type":"gene"},{"created":"2020-07-08T13:57:58.427721+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2741","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGY as ready","entity_name":"PIGY","entity_type":"gene"},{"created":"2020-07-08T13:57:58.420264+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2741","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigy has been classified as Amber List (Moderate Evidence).","entity_name":"PIGY","entity_type":"gene"},{"created":"2020-07-08T13:57:54.790766+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2741","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGY were changed from  to Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809","entity_name":"PIGY","entity_type":"gene"},{"created":"2020-07-08T13:57:30.928387+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2740","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGY were set to ","entity_name":"PIGY","entity_type":"gene"},{"created":"2020-07-08T13:57:10.711618+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2739","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGY","entity_type":"gene"}]}