{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1797","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1795","results":[{"created":"2020-05-19T11:55:19.772471+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CEP78 was added\ngene: CEP78 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP78 were set to 30679166\nPhenotypes for gene: CEP78 were set to Cone-Rod Dystrophy and Hearing Loss; CRDHL; OMIM: 617236","entity_name":"CEP78","entity_type":"gene"},{"created":"2020-05-19T11:55:19.725071+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDHR1 was added\ngene: CDHR1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDHR1 were set to 30679166\nPhenotypes for gene: CDHR1 were set to Cone-rod dystrophy 15, 613660","entity_name":"CDHR1","entity_type":"gene"},{"created":"2020-05-19T11:55:19.679064+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA2D4 was added\ngene: CACNA2D4 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CACNA2D4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D4 were set to 30679166\nPhenotypes for gene: CACNA2D4 were set to Retinal cone dystrophy 4, 610478","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2020-05-19T11:55:19.617551+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA1F was added\ngene: CACNA1F was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CACNA1F were set to 30679166\nPhenotypes for gene: CACNA1F were set to Cone-rod dystropy, X-linked, 3, 300476","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2020-05-19T11:55:19.520724+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C8orf37 was added\ngene: C8orf37 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C8orf37 were set to 30679166\nPhenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500; Retinitis pigmentosa 64, 614500","entity_name":"C8orf37","entity_type":"gene"},{"created":"2020-05-19T11:55:19.475290+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C21orf2 was added\ngene: C21orf2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C21orf2 were set to 30679166\nPhenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547","entity_name":"C21orf2","entity_type":"gene"},{"created":"2020-05-19T11:55:19.429480+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AIPL1 was added\ngene: AIPL1 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AIPL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AIPL1 were set to 30679166\nPhenotypes for gene: AIPL1 were set to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393","entity_name":"AIPL1","entity_type":"gene"},{"created":"2020-05-19T11:55:19.385177+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADAM9 was added\ngene: ADAM9 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ADAM9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM9 were set to 30679166\nPhenotypes for gene: ADAM9 were set to Cone-rod dystrophy 9, 612775","entity_name":"ADAM9","entity_type":"gene"},{"created":"2020-05-19T11:55:19.336638+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCA4 was added\ngene: ABCA4 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCA4 were set to 30679166\nPhenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116","entity_name":"ABCA4","entity_type":"gene"},{"created":"2020-05-19T11:55:19.310334+10:00","panel_name":"Cone-rod Dystrophies","panel_id":3147,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Cone-rod Dystrophies","entity_name":null,"entity_type":null},{"created":"2020-05-19T11:22:13.935701+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IDH3A as Green List (high evidence)","entity_name":"IDH3A","entity_type":"gene"},{"created":"2020-05-19T11:22:13.927136+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: idh3a has been classified as Green List (High Evidence).","entity_name":"IDH3A","entity_type":"gene"},{"created":"2020-05-19T11:22:01.517343+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IDH3A was added\ngene: IDH3A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: NHS GMS\nMode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069\nPhenotypes for gene: IDH3A were set to Retinitis pigmentosa; Leber congenital amaurosis","entity_name":"IDH3A","entity_type":"gene"},{"created":"2020-05-19T10:41:06.698060+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERC1 as ready","entity_name":"ERC1","entity_type":"gene"},{"created":"2020-05-19T10:41:06.685631+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erc1 has been classified as Red List (Low Evidence).","entity_name":"ERC1","entity_type":"gene"},{"created":"2020-05-19T10:40:54.502802+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERC1 as Red List (low evidence)","entity_name":"ERC1","entity_type":"gene"},{"created":"2020-05-19T10:40:54.491133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2831","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erc1 has been classified as Red List (Low Evidence).","entity_name":"ERC1","entity_type":"gene"},{"created":"2020-05-19T09:31:23.789687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2830","user_name":"chloe stutterd","item_type":"entity","text":"reviewed gene: ERC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ERC1","entity_type":"gene"},{"created":"2020-05-18T20:02:55.028379+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.1","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":"2020-05-18T20:00:18.404359+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WDR62 was added\ngene: WDR62 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: WDR62 was set to \nPhenotypes for gene: WDR62 were set to Cerebral Malformation Disorders","entity_name":"WDR62","entity_type":"gene"},{"created":"2020-05-18T20:00:18.331033+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VLDLR was added\ngene: VLDLR was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: VLDLR was set to \nPhenotypes for gene: VLDLR were set to Cerebral Malformation Disorders","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-05-18T20:00:18.256080+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBG1 was added\ngene: TUBG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBG1 was set to \nPhenotypes for gene: TUBG1 were set to Cerebral Malformation Disorders","entity_name":"TUBG1","entity_type":"gene"},{"created":"2020-05-18T20:00:18.182297+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB3 was added\ngene: TUBB3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBB3 was set to \nPhenotypes for gene: TUBB3 were set to Cerebral Malformation Disorders","entity_name":"TUBB3","entity_type":"gene"},{"created":"2020-05-18T20:00:18.108716+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB2B was added\ngene: TUBB2B was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBB2B was set to \nPhenotypes for gene: TUBB2B were set to Cerebral Malformation Disorders","entity_name":"TUBB2B","entity_type":"gene"},{"created":"2020-05-18T20:00:18.035172+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB2A was added\ngene: TUBB2A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBB2A was set to \nPhenotypes for gene: TUBB2A were set to Cerebral Malformation Disorders","entity_name":"TUBB2A","entity_type":"gene"},{"created":"2020-05-18T20:00:17.962549+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB was added\ngene: TUBB was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBB was set to \nPhenotypes for gene: TUBB were set to Cerebral Malformation Disorders","entity_name":"TUBB","entity_type":"gene"},{"created":"2020-05-18T20:00:17.890566+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBA8 was added\ngene: TUBA8 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBA8 was set to \nPhenotypes for gene: TUBA8 were set to Cerebral Malformation Disorders","entity_name":"TUBA8","entity_type":"gene"},{"created":"2020-05-18T20:00:17.817663+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBA1A was added\ngene: TUBA1A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TUBA1A was set to \nPhenotypes for gene: TUBA1A were set to Cerebral Malformation Disorders","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-05-18T20:00:17.744646+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAIP was added\ngene: TRAIP was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAIP were set to 26595769\nPhenotypes for gene: TRAIP were set to Seckel syndrome 9  616777","entity_name":"TRAIP","entity_type":"gene"},{"created":"2020-05-18T20:00:17.671027+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM5 was added\ngene: TMEM5 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TMEM5 was set to \nPhenotypes for gene: TMEM5 were set to Cerebral Malformation Disorders","entity_name":"TMEM5","entity_type":"gene"},{"created":"2020-05-18T20:00:17.597981+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TGFBR2 was added\ngene: TGFBR2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2  610168","entity_name":"TGFBR2","entity_type":"gene"},{"created":"2020-05-18T20:00:17.522631+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TGFBR1 was added\ngene: TGFBR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1  609192","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2020-05-18T20:00:17.446028+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TGFB2 was added\ngene: TGFB2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4  614816","entity_name":"TGFB2","entity_type":"gene"},{"created":"2020-05-18T20:00:17.374493+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TEK was added\ngene: TEK was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195; Multiple Cutaneous and Mucosal Venous Malformations","entity_name":"TEK","entity_type":"gene"},{"created":"2020-05-18T20:00:17.303146+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STAMBP was added\ngene: STAMBP was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261; Microcephaly-capillary malformation syndrome","entity_name":"STAMBP","entity_type":"gene"},{"created":"2020-05-18T20:00:17.231120+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRPX2 was added\ngene: SRPX2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SRPX2 was set to \nPhenotypes for gene: SRPX2 were set to Cerebral Malformation Disorders","entity_name":"SRPX2","entity_type":"gene"},{"created":"2020-05-18T20:00:17.159232+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCAL1 were set to 9674900\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia  242900","entity_name":"SMARCAL1","entity_type":"gene"},{"created":"2020-05-18T20:00:17.088591+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD3 was added\ngene: SMAD3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3  613795","entity_name":"SMAD3","entity_type":"gene"},{"created":"2020-05-18T20:00:17.016903+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTTN was added\ngene: RTTN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RTTN was set to \nPhenotypes for gene: RTTN were set to Cerebral Malformation Disorders","entity_name":"RTTN","entity_type":"gene"},{"created":"2020-05-18T20:00:16.946736+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RELN was added\ngene: RELN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RELN was set to \nPhenotypes for gene: RELN were set to Cerebral Malformation Disorders","entity_name":"RELN","entity_type":"gene"},{"created":"2020-05-18T20:00:16.876264+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBBP8 was added\ngene: RBBP8 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBBP8 were set to 21998596\nPhenotypes for gene: RBBP8 were set to Seckel syndrome 2  606744","entity_name":"RBBP8","entity_type":"gene"},{"created":"2020-05-18T20:00:16.805241+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTEN was added\ngene: PTEN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba Syndrome","entity_name":"PTEN","entity_type":"gene"},{"created":"2020-05-18T20:00:16.734773+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMT2 was added\ngene: POMT2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POMT2 was set to \nPhenotypes for gene: POMT2 were set to Cerebral Malformation Disorders","entity_name":"POMT2","entity_type":"gene"},{"created":"2020-05-18T20:00:16.663993+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMT1 was added\ngene: POMT1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POMT1 was set to \nPhenotypes for gene: POMT1 were set to Cerebral Malformation Disorders","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-05-18T20:00:16.592574+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: POMGNT1 was set to \nPhenotypes for gene: POMGNT1 were set to Cerebral Malformation Disorders","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-05-18T20:00:16.520448+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIK3R2 was added\ngene: PIK3R2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PIK3R2 was set to \nPhenotypes for gene: PIK3R2 were set to Cerebral Malformation Disorders","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2020-05-18T20:00:16.446429+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIK3CA was added\ngene: PIK3CA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PIK3CA was set to \nPhenotypes for gene: PIK3CA were set to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Cerebral Malformation Disorders","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2020-05-18T20:00:16.375498+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAFAH1B1 was added\ngene: PAFAH1B1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: PAFAH1B1 was set to \nPhenotypes for gene: PAFAH1B1 were set to Cerebral Malformation Disorders","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-05-18T20:00:16.305380+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OPHN1 was added\ngene: OPHN1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OPHN1 was set to \nPhenotypes for gene: OPHN1 were set to Cerebral Malformation Disorders","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-05-18T20:00:16.232467+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OCLN was added\ngene: OCLN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: OCLN was set to \nPhenotypes for gene: OCLN were set to Cerebral Malformation Disorders","entity_name":"OCLN","entity_type":"gene"},{"created":"2020-05-18T20:00:16.158222+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NOTCH3 were set to 20301673; 8878478\nPhenotypes for gene: NOTCH3 were set to Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL); Moyamoya disease; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)\nMode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-05-18T20:00:16.087383+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NIN was added\ngene: NIN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NIN were set to 22933543\nPhenotypes for gene: NIN were set to Seckel syndrome 7  614851","entity_name":"NIN","entity_type":"gene"},{"created":"2020-05-18T20:00:16.016402+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDE1 was added\ngene: NDE1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: NDE1 was set to \nPhenotypes for gene: NDE1 were set to Cerebral Malformation Disorders","entity_name":"NDE1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.947009+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEF2C was added\ngene: MEF2C was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-05-18T20:00:15.877284+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LARGE1 was added\ngene: LARGE1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LARGE1 was set to \nPhenotypes for gene: LARGE1 were set to Cerebral Malformation Disorders","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.806966+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMC3 was added\ngene: LAMC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMC3 was set to \nPhenotypes for gene: LAMC3 were set to Cerebral Malformation Disorders","entity_name":"LAMC3","entity_type":"gene"},{"created":"2020-05-18T20:00:15.738312+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LAMB1 was added\ngene: LAMB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: LAMB1 was set to \nPhenotypes for gene: LAMB1 were set to Cerebral Malformation Disorders","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.668929+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDR was added\ngene: KDR was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic; Hemangioma, capillary infantile, somatic, 602089; {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}","entity_name":"KDR","entity_type":"gene"},{"created":"2020-05-18T20:00:15.596446+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 22759690\nPhenotypes for gene: JAG1 were set to Alagille syndrome 1, 118450; Moyamoya disease","entity_name":"JAG1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.524047+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL6 was added\ngene: IL6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: IL6 was set to \nPhenotypes for gene: IL6 were set to {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}","entity_name":"IL6","entity_type":"gene"},{"created":"2020-05-18T20:00:15.455887+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HTRA1 was added\ngene: HTRA1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HTRA1 was set to Unknown\nPhenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Moyamoya disease","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.385514+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HLA-DRB1 was added\ngene: HLA-DRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HLA-DRB1 was set to Unknown\nPublications for gene: HLA-DRB1 were set to PMID: 7886716; 21349441\nPhenotypes for gene: HLA-DRB1 were set to Moyamoya disease","entity_name":"HLA-DRB1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.317132+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HLA-DQB1 was added\ngene: HLA-DQB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HLA-DQB1 was set to Unknown\nPublications for gene: HLA-DQB1 were set to PMID: 21349441; 9409445\nPhenotypes for gene: HLA-DQB1 were set to Moyamoya disease","entity_name":"HLA-DQB1","entity_type":"gene"},{"created":"2020-05-18T20:00:15.248585+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HLA-B was added\ngene: HLA-B was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: HLA-B was set to Unknown\nPublications for gene: HLA-B were set to 14676447; PMID: 21349441\nPhenotypes for gene: HLA-B were set to Moyamoya disease","entity_name":"HLA-B","entity_type":"gene"},{"created":"2020-05-18T20:00:15.176715+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAQ was added\ngene: GNAQ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GNAQ was set to \nPhenotypes for gene: GNAQ were set to Cerebral diseases of vascular origin with epilepsy; Capillary malformations, congenital, 1, somatic, mosaic, 163000","entity_name":"GNAQ","entity_type":"gene"},{"created":"2020-05-18T20:00:15.109145+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLMN was added\ngene: GLMN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLMN were set to Glomuvenous Malformation; Glomuvenous malformations","entity_name":"GLMN","entity_type":"gene"},{"created":"2020-05-18T20:00:15.040635+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: GLA was set to Unknown\nPhenotypes for gene: GLA were set to Moyamoya disease","entity_name":"GLA","entity_type":"gene"},{"created":"2020-05-18T20:00:14.968440+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXF1 was added\ngene: FOXF1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins","entity_name":"FOXF1","entity_type":"gene"},{"created":"2020-05-18T20:00:14.900803+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLT4 was added\ngene: FLT4 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FLT4 was set to \nPhenotypes for gene: FLT4 were set to Hemangioma, capillary infantile, somatic; Hemangioma, capillary infantile, somatic, 602089","entity_name":"FLT4","entity_type":"gene"},{"created":"2020-05-18T20:00:14.832349+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBN1 was added\ngene: FBN1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN1 were set to Marfan syndrome  154700","entity_name":"FBN1","entity_type":"gene"},{"created":"2020-05-18T20:00:14.759972+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELN was added\ngene: ELN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELN were set to 8460548\nPhenotypes for gene: ELN were set to Moyamoya disease; Aneurysm, intracranial berry, 1 105800","entity_name":"ELN","entity_type":"gene"},{"created":"2020-05-18T20:00:14.692892+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNA2 was added\ngene: DNA2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNA2 were set to 24389050\nPhenotypes for gene: DNA2 were set to Seckel syndrome 8  615807","entity_name":"DNA2","entity_type":"gene"},{"created":"2020-05-18T20:00:14.626282+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DCX was added\ngene: DCX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: DCX was set to \nPhenotypes for gene: DCX were set to Cerebral Malformation Disorders","entity_name":"DCX","entity_type":"gene"},{"created":"2020-05-18T20:00:14.556266+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTSA was added\ngene: CTSA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CTSA was set to Unknown","entity_name":"CTSA","entity_type":"gene"},{"created":"2020-05-18T20:00:14.489235+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRB1 was added\ngene: CRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CRB1 were set to Pigmented Paravenous Chorioretinal Atrophy","entity_name":"CRB1","entity_type":"gene"},{"created":"2020-05-18T20:00:14.420805+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A2 was added\ngene: COL4A2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL4A2 was set to \nPhenotypes for gene: COL4A2 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to}","entity_name":"COL4A2","entity_type":"gene"},{"created":"2020-05-18T20:00:14.354560+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL4A1 was added\ngene: COL4A1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to}","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-05-18T20:00:14.287955+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP63 was added\ngene: CEP63 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP63 were set to 21983783\nPhenotypes for gene: CEP63 were set to Seckel syndrome 6  614728","entity_name":"CEP63","entity_type":"gene"},{"created":"2020-05-18T20:00:14.220796+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CENPJ was added\ngene: CENPJ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CENPJ were set to Seckel syndrome 4  613676","entity_name":"CENPJ","entity_type":"gene"},{"created":"2020-05-18T20:00:14.154301+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BRCC3 was added\ngene: BRCC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: BRCC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: BRCC3 were set to 21596366\nPhenotypes for gene: BRCC3 were set to Moyamoya disease","entity_name":"BRCC3","entity_type":"gene"},{"created":"2020-05-18T20:00:14.085591+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP7A was added\ngene: ATP7A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ATP7A were set to Moyamoya disease","entity_name":"ATP7A","entity_type":"gene"},{"created":"2020-05-18T20:00:14.020521+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARX was added\ngene: ARX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ARX was set to \nPhenotypes for gene: ARX were set to Cerebral Malformation Disorders","entity_name":"ARX","entity_type":"gene"},{"created":"2020-05-18T20:00:13.955361+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANTXR1 was added\ngene: ANTXR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ANTXR1 were set to {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2020-05-18T20:00:13.889775+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADGRG1 was added\ngene: ADGRG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ADGRG1 was set to \nPhenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-05-18T20:00:13.823996+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACE was added\ngene: ACE was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ACE was set to \nPhenotypes for gene: ACE were set to {Stroke, hemorrhagic}","entity_name":"ACE","entity_type":"gene"},{"created":"2020-05-18T20:00:13.758311+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC6 was added\ngene: ABCC6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp\nMode of inheritance for gene: ABCC6 was set to Unknown\nPhenotypes for gene: ABCC6 were set to Moyamoya disease","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-05-18T20:00:13.693083+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THSD1 was added\ngene: THSD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: THSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: THSD1 were set to 27895300\nPhenotypes for gene: THSD1 were set to subarachnoid hemorrhage","entity_name":"THSD1","entity_type":"gene"},{"created":"2020-05-18T20:00:13.627188+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD9 was added\ngene: SMAD9 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SMAD9","entity_type":"gene"},{"created":"2020-05-18T20:00:13.559445+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKD2 was added\ngene: PKD2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKD2 were set to Polycystic kidney disease 2  613095","entity_name":"PKD2","entity_type":"gene"},{"created":"2020-05-18T20:00:13.491780+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKD1 was added\ngene: PKD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I  173900","entity_name":"PKD1","entity_type":"gene"},{"created":"2020-05-18T20:00:13.423669+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCNT was added\ngene: PCNT was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCNT were set to 15368497\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720; Moyamoya disease","entity_name":"PCNT","entity_type":"gene"},{"created":"2020-05-18T20:00:13.359276+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NF1 was added\ngene: NF1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NF1 were set to 10754001\nPhenotypes for gene: NF1 were set to Moyamoya disease; Neurofibromatosis, type 1 162200","entity_name":"NF1","entity_type":"gene"},{"created":"2020-05-18T20:00:13.295320+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH11 was added\ngene: MYH11 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MYH11 were set to 16444274; 29263223\nPhenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; moyamoya-like angiopath","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-05-18T20:00:13.229999+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRVI1 was added\ngene: MRVI1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MRVI1 was set to Unknown","entity_name":"MRVI1","entity_type":"gene"},{"created":"2020-05-18T20:00:13.159892+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HBB was added\ngene: HBB was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HBB were set to 20301551\nPhenotypes for gene: HBB were set to Sickle cell anemia  603903","entity_name":"HBB","entity_type":"gene"},{"created":"2020-05-18T20:00:13.096444+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF2 was added\ngene: GDF2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GDF2","entity_type":"gene"},{"created":"2020-05-18T20:00:13.032163+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLVCR2 was added\ngene: FLVCR2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLVCR2 were set to 20206334\nPhenotypes for gene: FLVCR2 were set to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2020-05-18T20:00:12.968292+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EPHB4 was added\ngene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196","entity_name":"EPHB4","entity_type":"gene"},{"created":"2020-05-18T20:00:12.904684+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP152 was added\ngene: CEP152 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP152 were set to 21131973\nPhenotypes for gene: CEP152 were set to Seckel syndrome 5  613823","entity_name":"CEP152","entity_type":"gene"},{"created":"2020-05-18T20:00:12.840565+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CBL was added\ngene: CBL was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CBL were set to 25283271; 28343148\nPhenotypes for gene: CBL were set to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563\nMode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CBL","entity_type":"gene"}]}