{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1798","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1796","results":[{"created":"2020-05-18T20:00:12.776937+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATR was added\ngene: ATR was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATR were set to 12640452\nPhenotypes for gene: ATR were set to Seckel syndrome 1  210600","entity_name":"ATR","entity_type":"gene"},{"created":"2020-05-18T20:00:12.713134+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADA2 was added\ngene: ADA2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADA2 were set to 3471198, 25528372\nPhenotypes for gene: ADA2 were set to Sneddon syndrome  182410; Polyarteritis nodosa","entity_name":"ADA2","entity_type":"gene"},{"created":"2020-05-18T20:00:12.648728+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YY1AP1 was added\ngene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YY1AP1 were set to Grange syndrome, 602531","entity_name":"YY1AP1","entity_type":"gene"},{"created":"2020-05-18T20:00:12.584907+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome  175050","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-05-18T20:00:12.519211+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A10 was added\ngene: SLC2A10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A10 were set to 16550171\nPhenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2020-05-18T20:00:12.456273+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMHD1 was added\ngene: SAMHD1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMHD1 were set to 20653736; 21402907\nPhenotypes for gene: SAMHD1 were set to Moyamoya disease","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-05-18T20:00:12.392791+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNF213 was added\ngene: RNF213 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RNF213 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RNF213 were set to 21048783\nPhenotypes for gene: RNF213 were set to {Moyamoya disease 2, susceptibility to}","entity_name":"RNF213","entity_type":"gene"},{"created":"2020-05-18T20:00:12.329861+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RASA1 was added\ngene: RASA1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RASA1 were set to 14639529\nPhenotypes for gene: RASA1 were set to Parkes Weber syndrome; Capillary malformation-arteriovenous malformation, 608354; Parkes Weber Syndrome; Parkes Weber syndrome (PKWS); Parkes Weber syndrome, 608355; Capillary Malformation-Arteriovenous Malformation Syndrome","entity_name":"RASA1","entity_type":"gene"},{"created":"2020-05-18T20:00:12.267130+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDCD10 was added\ngene: PDCD10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDCD10 were set to 15543491; 20301470\nPhenotypes for gene: PDCD10 were set to Cerebral Cavernous Malformations; Cerebral cavernous malformations 3; Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Familial Cerebral Cavernous Malformation\nMode of pathogenicity for gene: PDCD10 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":"PDCD10","entity_type":"gene"},{"created":"2020-05-18T20:00:12.204490+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRIT1 was added\ngene: KRIT1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRIT1 were set to 10508515; 20301470\nPhenotypes for gene: KRIT1 were set to Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860","entity_name":"KRIT1","entity_type":"gene"},{"created":"2020-05-18T20:00:12.142038+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GUCY1A3 was added\ngene: GUCY1A3 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GUCY1A3 were set to 24581742; 26777256\nPhenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750","entity_name":"GUCY1A3","entity_type":"gene"},{"created":"2020-05-18T20:00:12.080279+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ENG was added\ngene: ENG was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ENG were set to 15024723; 20301525\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300","entity_name":"ENG","entity_type":"gene"},{"created":"2020-05-18T20:00:12.018196+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV  130050","entity_name":"COL3A1","entity_type":"gene"},{"created":"2020-05-18T20:00:11.956621+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CCM2 was added\ngene: CCM2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CCM2 were set to 14624391; 20301470\nPhenotypes for gene: CCM2 were set to Cerebral cavernous malformations 2; Cerebral Cavernous Malformation; Capillary malformation-arteriovenous malformation 608354; Cerebral Cavernous Malformations","entity_name":"CCM2","entity_type":"gene"},{"created":"2020-05-18T20:00:11.895604+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2  600376","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-05-18T20:00:11.831846+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTA2 was added\ngene: ACTA2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome,613834; Aortic aneurysm familial thoracic 6,611788; Moyamoya Disease; Moyamoya disease 5; Moyamoya disease 5,614042","entity_name":"ACTA2","entity_type":"gene"},{"created":"2020-05-18T20:00:11.791738+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Cerebral vascular malformations","entity_name":null,"entity_type":null},{"created":"2020-05-18T16:46:35.153985+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P3H1 as ready","entity_name":"P3H1","entity_type":"gene"},{"created":"2020-05-18T16:46:35.144495+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p3h1 has been classified as Green List (High Evidence).","entity_name":"P3H1","entity_type":"gene"},{"created":"2020-05-18T16:46:32.446335+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: P3H1 were changed from  to Osteogenesis imperfecta, type VIII, (MIM# 610915)","entity_name":"P3H1","entity_type":"gene"},{"created":"2020-05-18T16:46:04.329852+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: P3H1 were set to ","entity_name":"P3H1","entity_type":"gene"},{"created":"2020-05-18T16:45:31.400850+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: P3H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"P3H1","entity_type":"gene"},{"created":"2020-05-18T16:44:27.829492+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPF as ready","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T16:44:27.820700+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpf has been classified as Green List (High Evidence).","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T16:44:24.305411+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CENPF were changed from  to Stromme syndrome (MIM#243605)","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T16:43:22.188343+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPF were set to ","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T16:42:51.974648+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T16:39:40.069805+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX59 as ready","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-05-18T16:39:40.060465+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Green List (High Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-05-18T16:39:35.482776+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDX59 as Green List (high evidence)","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-05-18T16:39:35.470806+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Green List (High Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-05-18T16:38:23.669677+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICK as ready","entity_name":"ICK","entity_type":"gene"},{"created":"2020-05-18T16:38:23.656879+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ick has been classified as Amber List (Moderate Evidence).","entity_name":"ICK","entity_type":"gene"},{"created":"2020-05-18T16:38:19.411885+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ICK as Amber List (moderate evidence)","entity_name":"ICK","entity_type":"gene"},{"created":"2020-05-18T16:38:19.403601+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ick has been classified as Amber List (Moderate Evidence).","entity_name":"ICK","entity_type":"gene"},{"created":"2020-05-18T16:37:05.525947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:37:05.513115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:36:57.216563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHCR7 were changed from  to Smith-Lemli-Opitz syndrome (MIM#270400)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:36:34.766232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHCR7 were set to ","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:36:15.805360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:35:29.972888+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHCR7 as ready","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:35:29.963554+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Amber List (Moderate Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:35:25.431979+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR7 as Amber List (moderate evidence)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:35:25.418264+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Amber List (Moderate Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T16:34:28.326168+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC2 as ready","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T16:34:28.313659+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc2 has been classified as Green List (High Evidence).","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T16:34:20.593583+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC2 were changed from  to Ellis-van Creveld syndrome (MIM#225500)","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T16:33:52.339839+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EVC2 were set to ","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T16:33:24.055709+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T16:32:37.882510+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2020-05-18T16:32:37.869669+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Amber List (Moderate Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2020-05-18T16:32:34.027872+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EVC as Amber List (moderate evidence)","entity_name":"EVC","entity_type":"gene"},{"created":"2020-05-18T16:32:34.015578+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Amber List (Moderate Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2020-05-18T16:31:21.543383+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLI3 as ready","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:31:21.531181+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli3 has been classified as Amber List (Moderate Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:31:16.232283+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:30:38.844613+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLI3 as Amber List (moderate evidence)","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:30:38.833315+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli3 has been classified as Amber List (Moderate Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:29:39.982556+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLI3 as ready","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:29:39.972314+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli3 has been classified as Green List (High Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:29:36.914945+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLI3 were changed from  to Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:29:08.711681+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLI3 were set to ","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:28:40.608836+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-05-18T16:27:42.213851+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC21B as ready","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:27:42.200962+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc21b has been classified as Green List (High Evidence).","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:27:38.776030+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC21B were changed from  to Short-rib thoracic dysplasia 4 with or without polydactyly (MIM#613819)","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:27:10.299438+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC21B were set to ","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:26:41.116828+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:25:31.098080+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDXK as ready","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:25:31.088887+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdxk has been classified as Amber List (Moderate Evidence).","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:25:27.206866+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDXK as Amber List (moderate evidence)","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:25:27.198012+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdxk has been classified as Amber List (Moderate Evidence).","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:24:58.106217+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDXK was added\ngene: PDXK was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDXK were set to 31187503\nPhenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy\nReview for gene: PDXK was set to AMBER\nAdded comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation. \nSources: Literature","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:23:05.987234+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDXK as ready","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:23:05.976245+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdxk has been classified as Amber List (Moderate Evidence).","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:22:50.398627+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDXK as Amber List (moderate evidence)","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:22:50.389598+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdxk has been classified as Amber List (Moderate Evidence).","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:22:41.162346+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDXK was added\ngene: PDXK was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDXK were set to 31187503\nPhenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy\nReview for gene: PDXK was set to AMBER\nAdded comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation. \nSources: Literature","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:20:46.312013+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2827","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDXK as ready","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:20:46.299144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdxk has been classified as Amber List (Moderate Evidence).","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:20:37.678443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2827","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDXK were set to (PMID: 31187503)","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:20:02.091828+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2826","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDXK as Amber List (moderate evidence)","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:20:02.076225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdxk has been classified as Amber List (Moderate Evidence).","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:20:01.694701+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.18","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17277775, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, (MIM# 610915); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"P3H1","entity_type":"gene"},{"created":"2020-05-18T16:19:41.542120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDXK: Rating: AMBER; Mode of pathogenicity: None; Publications: 31187503; Phenotypes: Axonal polyneuropathy, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDXK","entity_type":"gene"},{"created":"2020-05-18T16:13:55.082376+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC21B as ready","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:13:55.072577+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc21b has been classified as Red List (Low Evidence).","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:13:47.241042+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC21B were set to ","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:13:16.934420+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTC21B as Red List (low evidence)","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:13:16.922595+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc21b has been classified as Red List (Low Evidence).","entity_name":"TTC21B","entity_type":"gene"},{"created":"2020-05-18T16:12:01.615755+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MECOM was changed from None to Other","entity_name":"MECOM","entity_type":"gene"},{"created":"2020-05-18T15:57:37.712207+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"gene: CENPF was added\ngene: CENPF was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CENPF were set to 25564561; 28407396; 26820108\nPhenotypes for gene: CENPF were set to Stromme syndrome (MIM#243605)\nReview for gene: CENPF was set to AMBER\nAdded comment: Stromme syndrome is well reported as a ciliopathy phenotype with some overlapping JS features although does not seem to be consistent between patients. Amber for this panel\r\n\r\nPMID: 25564561; Waters 2015; 2 families reported. Ciliopathy features such as cerebellar vermis hypoplasia and cleft palate reported in one family. Functional studies performed.\r\nPMID: 28407396; Ozkinay 2017; 1 family reported. Brain MRI showed lissecephaly.\r\nPMID: 26820108; Filges 2016; 2 families reported. \nSources: Expert Review","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T15:48:31.293691+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.152","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: 25564561, 28407396, 26820108; Phenotypes: Stromme syndrome (MIM#243605); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-05-18T14:31:24.051570+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"gene: DDX59 was added\ngene: DDX59 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX59 were set to 29127725; 23972372; 28711741\nPhenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (MIM#174300)\nReview for gene: DDX59 was set to GREEN\nAdded comment: Overlapping JS features including cerebellar vermis hypoplasia, cleft palate and postaxial polydactyly. 4 or 5 families reported to date and functional studies performed.\r\n\r\nPMID: 29127725; 1 family with OFD\r\nPMID: 23972372; 2 different hom variants reported in 2 families. Functional studies showed impaired ciliary signaling\r\nPMID: 28711741; Same hom variant reported in 2 apparently unrelated consang families. Cerebellar vermis hypoplasia reported in 1 patient \nSources: Expert Review","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-05-18T13:58:55.867878+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"gene: ICK was added\ngene: ICK was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to 19185282; 27069622; 27466187; 24797473; 24853502\nPhenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia (MIM#612651)\nReview for gene: ICK was set to AMBER\nAdded comment: 3 families reported, functional studies and animal models. Primarily a skeletal ciliopathy and rare reports of brain and cerebellar malformations. Amber for this panel.\r\n\r\nPMID: 19185282; 6 affected from 2 Amish families with endocrine-cerebro-osteodysplasia (ECO)\r\n\r\nPMID: 27069622; A different variant reported in a Turkish fetus presenting with ECO and overlapping features of ciliopathies. Functional studies showed abnormal ciliary localization.\r\n\r\nPMID: 27466187; Additional variant identified in a patient with short rib polydactyly syndromes (SRPS). Functional studies showed that the variant caused ciliary defects\r\n\r\nPMID: 24797473; Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis\r\n\r\nPMID: 24853502; Ick knockout mice recapitulates clinical symptoms of ECO. Defects in ICK caused aberrant ciliogenesis \nSources: Expert Review","entity_name":"ICK","entity_type":"gene"},{"created":"2020-05-18T13:32:11.659415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2825","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23059950; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T13:29:42.796443+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"gene: DHCR7 was added\ngene: DHCR7 was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR7 were set to 23059950\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome (MIM#270400)\nReview for gene: DHCR7 was set to AMBER\nAdded comment: Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly\r\n\r\nPanelApp UK: Important differential diagnosis of ciliopathy \nSources: Expert Review","entity_name":"DHCR7","entity_type":"gene"},{"created":"2020-05-18T13:10:52.266121+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy","panel_id":179,"panel_version":"0.11","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23220543; Phenotypes: Ellis-van Creveld syndrome (MIM#225500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T13:06:32.757876+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.152","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543; Phenotypes: Ellis-van Creveld syndrome (MIM#225500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-05-18T12:50:17.457689+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"gene: EVC was added\ngene: EVC was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EVC were set to 23220543\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome (MIM#225500)\nReview for gene: EVC was set to AMBER\nAdded comment: Well established ciliopathy gene, primarily with skeletal manifestations and rare reports of cerebellar malformations (Dandy-Walker malformation) \nSources: Expert Review","entity_name":"EVC","entity_type":"gene"}]}