{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=771","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=769","results":[{"created":"2022-09-09T15:51:07.225727+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP9 as ready","entity_name":"GP9","entity_type":"gene"},{"created":"2022-09-09T15:51:07.213772+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp9 has been classified as Red List (Low Evidence).","entity_name":"GP9","entity_type":"gene"},{"created":"2022-09-09T15:51:01.656404+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GP9 as Red List (low evidence)","entity_name":"GP9","entity_type":"gene"},{"created":"2022-09-09T15:51:01.634253+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp9 has been classified as Red List (Low Evidence).","entity_name":"GP9","entity_type":"gene"},{"created":"2022-09-09T15:50:52.277967+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GP9.","entity_name":"GP9","entity_type":"gene"},{"created":"2022-09-09T15:50:41.947593+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type C (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP9","entity_type":"gene"},{"created":"2022-09-09T15:49:41.553880+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GP1BA","entity_type":"gene"},{"created":"2022-09-09T15:48:36.080633+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB1 as ready","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:48:36.068995+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb1 has been classified as Green List (High Evidence).","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:47:57.332174+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F11 as ready","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:47:57.321299+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f11 has been classified as Red List (Low Evidence).","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:47:55.542330+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:47:37.610717+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJB1 as Green List (high evidence)","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:47:37.586743+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb1 has been classified as Green List (High Evidence).","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:47:30.153464+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F11 were changed from Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416) to Factor XI deficiency, autosomal recessive, (MIM#612416)","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:47:15.492082+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GJB1.","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:47:05.763658+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GJB1: Added comment: Childhood onset, motor disability can be severe.; Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GJB1","entity_type":"gene"},{"created":"2022-09-09T15:44:20.314798+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F11 as Red List (low evidence)","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:44:20.306072+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f11 has been classified as Red List (Low Evidence).","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:43:43.879182+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: F11.","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:43:35.038401+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal recessive, (MIM#612416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"F11","entity_type":"gene"},{"created":"2022-09-09T15:41:51.538455+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CYP19A1 from the panel","entity_name":null,"entity_type":null},{"created":"2022-09-09T15:40:29.519895+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GRHPR.","entity_name":"GRHPR","entity_type":"gene"},{"created":"2022-09-09T15:39:50.388709+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CYP11B1 from the panel","entity_name":null,"entity_type":null},{"created":"2022-09-09T15:35:02.087916+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGHM as Amber List (moderate evidence)","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-09-09T15:35:02.067961+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ighm has been classified as Amber List (Moderate Evidence).","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-09-09T15:34:50.499095+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Workaround in place to detect variants in this gene.; to: Workaround possible to detect variants in this gene. However, residual risk of false negative results.","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-09-09T15:34:23.046777+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IGHM: Changed rating: AMBER","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-09-09T15:29:26.120755+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F9 as ready","entity_name":"F9","entity_type":"gene"},{"created":"2022-09-09T15:29:26.109406+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f9 has been classified as Red List (Low Evidence).","entity_name":"F9","entity_type":"gene"},{"created":"2022-09-09T15:29:16.339418+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F9 as Red List (low evidence)","entity_name":"F9","entity_type":"gene"},{"created":"2022-09-09T15:29:16.332304+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f9 has been classified as Red List (Low Evidence).","entity_name":"F9","entity_type":"gene"},{"created":"2022-09-09T15:29:06.756951+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: F9.","entity_name":"F9","entity_type":"gene"},{"created":"2022-09-09T15:28:57.470892+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: IGHM.","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-09-09T15:28:15.352126+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"F9","entity_type":"gene"},{"created":"2022-09-09T15:26:03.273246+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F5 as ready","entity_name":"F5","entity_type":"gene"},{"created":"2022-09-09T15:26:03.265141+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f5 has been classified as Amber List (Moderate Evidence).","entity_name":"F5","entity_type":"gene"},{"created":"2022-09-09T15:23:38.689095+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F5 as Amber List (moderate evidence)","entity_name":"F5","entity_type":"gene"},{"created":"2022-09-09T15:23:38.682643+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f5 has been classified as Amber List (Moderate Evidence).","entity_name":"F5","entity_type":"gene"},{"created":"2022-09-09T15:23:29.894827+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: F5.","entity_name":"F5","entity_type":"gene"},{"created":"2022-09-09T15:23:21.148888+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"F5","entity_type":"gene"},{"created":"2022-09-09T15:21:58.376781+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F2 as ready","entity_name":"F2","entity_type":"gene"},{"created":"2022-09-09T15:21:58.369649+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f2 has been classified as Green List (High Evidence).","entity_name":"F2","entity_type":"gene"},{"created":"2022-09-09T15:21:54.326291+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F2 were changed from Dysprothrombinemia, 613679 (3) to Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679)","entity_name":"F2","entity_type":"gene"},{"created":"2022-09-09T15:20:24.181458+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: F2.","entity_name":"F2","entity_type":"gene"},{"created":"2022-09-09T15:19:07.445638+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoprothrombinaemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"F2","entity_type":"gene"},{"created":"2022-09-09T15:17:14.920694+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGR as ready","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:17:14.909202+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Amber List (Moderate Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:17:08.737949+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGR were changed from Macular degeneration, X-linked atrophic, 300834 (3) to Retinitis pigmentosa 3 (MIM#300029)","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:16:55.794356+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPGR were set to ","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:15:05.413732+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPGR as Amber List (moderate evidence)","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:15:05.405386+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgr has been classified as Amber List (Moderate Evidence).","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:14:56.565103+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: RPGR.","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T15:13:29.274628+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYDIN as ready","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-09-09T15:13:29.264568+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hydin has been classified as Green List (High Evidence).","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-09-09T15:13:12.927141+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T15:13:12.917467+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Amber List (Moderate Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T15:13:08.723208+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBA were set to ","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T15:12:55.477051+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA as Amber List (moderate evidence)","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T15:12:55.458208+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Amber List (Moderate Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T15:12:44.253458+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GBA.","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T15:08:41.136998+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCF1 as ready","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:08:41.119872+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncf1 has been classified as Amber List (Moderate Evidence).","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:08:29.694631+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) to Chronic granulomatous disease 1, autosomal recessive (MIM#233700)","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:08:14.908146+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NCF1 were set to ","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:08:02.512512+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCF1 as Amber List (moderate evidence)","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:08:02.500722+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncf1 has been classified as Amber List (Moderate Evidence).","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:07:49.781210+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: NCF1.","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T15:06:35.717792+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYDIN were set to ","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-09-09T15:06:25.337263+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: HYDIN.","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-09-09T15:05:48.884779+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HERC2 as ready","entity_name":"HERC2","entity_type":"gene"},{"created":"2022-09-09T15:05:48.873477+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: herc2 has been classified as Green List (High Evidence).","entity_name":"HERC2","entity_type":"gene"},{"created":"2022-09-09T15:05:45.503793+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, 615516 (3) to Intellectual developmental disorder, autosomal recessive 38 (MIM#615516)","entity_name":"HERC2","entity_type":"gene"},{"created":"2022-09-09T15:05:29.447458+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: HERC2.","entity_name":"HERC2","entity_type":"gene"},{"created":"2022-09-09T11:27:37.975031+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209; to: Gene is mostly well covered however is missing critical region (ORF15) - ChrX:38286208-38286209","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T11:27:16.051955+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Crystle Lee","item_type":"entity","text":"commented on gene: RPGR: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-09-09T11:24:03.163703+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Crystle Lee","item_type":"entity","text":"commented on gene: GBA: Most common pathogenic variant Asn409Ser detectable. Technically challenging to accurately detect the 2nd most common pathogenic variant, Leu483Pro","entity_name":"GBA","entity_type":"gene"},{"created":"2022-09-09T11:18:49.196451+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Crystle Lee","item_type":"entity","text":"commented on gene: NCF1: 5 out of 11 exons in the gene does not map accurately (exon 1, 5, 8, 9, 11)","entity_name":"NCF1","entity_type":"gene"},{"created":"2022-09-09T11:14:13.367078+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Crystle Lee","item_type":"entity","text":"edited their review of gene: HYDIN: Added comment: Mapping issues reviewed: Gene is mostly well covered. Insufficient evidence to exclude on technical ground.; Changed rating: GREEN","entity_name":"HYDIN","entity_type":"gene"},{"created":"2022-09-09T11:11:31.782192+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"0.168","user_name":"Crystle Lee","item_type":"entity","text":"edited their review of gene: HERC2: Added comment: Mapping issues reviewed: Majority of exons in this gene are well covered and there is no evidence of any recurrent variants.  Insufficient mapping issues to exclude gene. \r\n\r\nNote: most SNVs reported as VUS. Lots of multigenic CNVs reported.; Changed rating: GREEN","entity_name":"HERC2","entity_type":"gene"},{"created":"2022-09-09T10:33:59.620377+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.71","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: JAG1 as ready","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-09T10:33:59.612796+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.71","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: jag1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-09T10:31:21.071845+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.71","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: JAG1 as Amber List (moderate evidence)","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-09T10:31:21.060224+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.71","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: jag1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-09T10:26:01.332635+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.70","user_name":"Bryony Thompson","item_type":"entity","text":"gene: JAG1 was added\ngene: JAG1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 35819173; 30071989; 14993126; 18570795\nPhenotypes for gene: JAG1 were set to thoracic aortic aneurysm MONDO:0005396\nReview for gene: JAG1 was set to AMBER\nAdded comment: Thoracic aortic aneurysm appears to be a rare feature of Alagille syndrome, but has been reported as a presenting feature in at least 2 families\r\nPMID: 35819173 - two families segregating JAG1 variants that present with isolated aneurysmal disease lacking other Alagille syndrome (AGS) clinical characteristics (such as the hepatic abnormalities, posterior embryotoxon, and cardiac structural changes). Histological evaluation of aortic tissue from one of the TAA cases revealed elastin degradation and abnormal collagen deposition.\r\nPMID: 30071989 - JAG1 assessed as no (clinical) evidence for HTAAD by the ClinGen Heritable Thoracic Aortic Aneurysm and Dissection GCEP in 2018. Currently under review\r\nPMID: 14993126 - three AGS patients with aortic aneurysms and 2 with aortic coarctations identified in a retrospective chart review of 268 AGS individuals autopsy finding in three patients who died of sudden death\r\nPMID: 18570795 - 17 yo asymptomatic AGS case with dilatation of the ascending aorta from the root identified \nSources: Literature","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-09T10:19:57.865953+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.323","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35819173, 30071989, 14993126, 18570795; Phenotypes: thoracic aortic aneurysm MONDO:0005396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"JAG1","entity_type":"gene"},{"created":"2022-09-09T08:19:44.423670+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.323","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: OOEP were changed from Multi locus imprinting disturbance in offspring to Multi locus imprinting disturbance in offspring; female infertility due to oocyte meiotic arrest MONDO:0044626","entity_name":"OOEP","entity_type":"gene"},{"created":"2022-09-09T08:17:12.136250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.322","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: OOEP were set to 29574422","entity_name":"OOEP","entity_type":"gene"},{"created":"2022-09-09T08:14:21.089185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.321","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: OOEP as Amber List (moderate evidence)","entity_name":"OOEP","entity_type":"gene"},{"created":"2022-09-09T08:14:21.076270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.321","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ooep has been classified as Amber List (Moderate Evidence).","entity_name":"OOEP","entity_type":"gene"},{"created":"2022-09-09T08:08:56.347818+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4935","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFSP2 were changed from Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus to Developmental and epileptic encephalopathy 106, MIM# 620028; Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus","entity_name":"UFSP2","entity_type":"gene"},{"created":"2022-09-09T08:08:41.698429+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.320","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: OOEP: Rating: AMBER; Mode of pathogenicity: None; Publications: 35946397, 18804437; Phenotypes: female infertility due to oocyte meiotic arrest MONDO:0044626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OOEP","entity_type":"gene"},{"created":"2022-09-09T08:08:17.493056+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4934","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus","entity_name":"UFSP2","entity_type":"gene"},{"created":"2022-09-09T08:07:59.246568+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1663","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFSP2 were changed from Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus to Developmental and epileptic encephalopathy 106, MIM# 620028; Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus","entity_name":"UFSP2","entity_type":"gene"},{"created":"2022-09-09T08:07:21.052494+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1662","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus","entity_name":"UFSP2","entity_type":"gene"},{"created":"2022-09-09T08:02:23.055114+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFSP2 were changed from Neurodevelopmental disorder; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 to Developmental and epileptic encephalopathy 106, MIM#\t620028; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974","entity_name":"UFSP2","entity_type":"gene"},{"created":"2022-09-09T08:01:56.611417+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.319","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974","entity_name":"UFSP2","entity_type":"gene"},{"created":"2022-09-09T08:00:47.952882+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4934","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027","entity_name":"TRAPPC10","entity_type":"gene"},{"created":"2022-09-09T08:00:09.494104+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4933","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC10","entity_type":"gene"},{"created":"2022-09-09T07:59:50.600905+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1662","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027","entity_name":"TRAPPC10","entity_type":"gene"}]}