{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1723","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1721","results":[{"created":"2020-07-21T13:15:58.568698+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: KIF7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF7","entity_type":"gene"},{"created":"2020-07-21T13:15:37.375326+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: KIAA0586: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2020-07-21T13:14:54.095177+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IQCE: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IQCE","entity_type":"gene"},{"created":"2020-07-21T13:14:27.661302+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: INPP5E: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INPP5E","entity_type":"gene"},{"created":"2020-07-21T13:14:12.659655+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IFT80: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT80","entity_type":"gene"},{"created":"2020-07-21T13:14:00.393510+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IFT52: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT52","entity_type":"gene"},{"created":"2020-07-21T13:13:40.723733+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IFT43: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2020-07-21T13:13:27.554479+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IFT27: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT27","entity_type":"gene"},{"created":"2020-07-21T13:13:12.956622+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IFT172: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2020-07-21T13:12:57.535489+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: IFT140: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2020-07-21T13:12:40.324056+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: ICK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ICK","entity_type":"gene"},{"created":"2020-07-21T13:12:14.754038+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: HYLS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-07-21T13:11:48.066384+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: HOXA13: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOXA13","entity_type":"gene"},{"created":"2020-07-21T13:11:33.115286+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: HNRNPK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNRNPK","entity_type":"gene"},{"created":"2020-07-21T13:11:10.521741+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: GRIP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GRIP1","entity_type":"gene"},{"created":"2020-07-21T13:10:47.290513+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: GPC3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GPC3","entity_type":"gene"},{"created":"2020-07-21T13:10:19.292703+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: GLI3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-07-21T13:10:05.512220+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: GLI2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLI2","entity_type":"gene"},{"created":"2020-07-21T13:09:24.707065+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: GDF5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2020-07-21T13:08:35.921640+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: FREM2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FREM2","entity_type":"gene"},{"created":"2020-07-21T13:08:22.257909+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: FRAS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRAS1","entity_type":"gene"},{"created":"2020-07-21T13:05:36.446441+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: FGFR3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR3","entity_type":"gene"},{"created":"2020-07-21T13:05:04.786730+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: FGFR2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR2","entity_type":"gene"},{"created":"2020-07-21T13:04:31.091573+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: FGFR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-07-21T13:04:05.267240+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: FGF10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-07-21T13:03:48.727099+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: EVC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2020-07-21T13:03:21.492490+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: EVC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2020-07-21T13:02:39.003949+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: EBP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"EBP","entity_type":"gene"},{"created":"2020-07-21T13:00:53.408155+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: DYNC2LI1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2020-07-21T13:00:36.755517+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: DYNC2H1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-07-21T13:00:21.544670+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: DDX59: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2020-07-21T12:59:59.601900+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CSPP1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2020-07-21T12:59:40.607902+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CKAP2L: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CKAP2L","entity_type":"gene"},{"created":"2020-07-21T12:59:14.487791+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CEP41: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2020-07-21T12:58:51.876983+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CEP290: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP290","entity_type":"gene"},{"created":"2020-07-21T12:58:24.927567+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CEP164: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2020-07-21T12:57:58.513023+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CEP120: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2020-07-21T12:57:25.647681+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CENPF: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPF","entity_type":"gene"},{"created":"2020-07-21T12:57:03.852406+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CCND2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCND2","entity_type":"gene"},{"created":"2020-07-21T12:56:29.815030+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: CC2D2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-07-21T12:55:53.220355+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: C5orf42: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-07-21T12:55:35.916814+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: C2CD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-07-21T12:53:43.718982+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BMP4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMP4","entity_type":"gene"},{"created":"2020-07-21T12:53:10.618551+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BHLHA9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BHLHA9","entity_type":"gene"},{"created":"2020-07-21T12:52:33.101516+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS9: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS9","entity_type":"gene"},{"created":"2020-07-21T12:51:51.691253+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS7","entity_type":"gene"},{"created":"2020-07-21T12:51:17.720813+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS5","entity_type":"gene"},{"created":"2020-07-21T12:51:00.442107+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS4","entity_type":"gene"},{"created":"2020-07-21T12:50:36.756124+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS2","entity_type":"gene"},{"created":"2020-07-21T12:50:11.150040+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS12","entity_type":"gene"},{"created":"2020-07-21T12:49:56.697975+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS10","entity_type":"gene"},{"created":"2020-07-21T12:49:37.060167+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: BBS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS1","entity_type":"gene"},{"created":"2020-07-21T12:49:12.119452+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: B9D2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B9D2","entity_type":"gene"},{"created":"2020-07-21T12:48:30.097434+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL6","entity_type":"gene"},{"created":"2020-07-21T12:47:25.546272+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: AKT3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT3","entity_type":"gene"},{"created":"2020-07-21T12:47:01.071719+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.36","user_name":"Anand Vasudevan","item_type":"entity","text":"reviewed gene: AHI1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHI1","entity_type":"gene"},{"created":"2020-07-21T11:55:02.539808+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLCN1 as ready","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-07-21T11:55:02.511712+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clcn1 has been classified as Green List (High Evidence).","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-07-21T11:55:00.225044+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLCN1 were changed from  to Myotonia congenita, dominant, MIM#\t160800; Myotonia congenita, recessive, MIM#\t255700","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-07-21T10:31:36.331357+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.29","user_name":"Sue White","item_type":"entity","text":"Classified gene: CLCN1 as Green List (high evidence)","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-07-21T10:31:36.321718+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.29","user_name":"Sue White","item_type":"entity","text":"Gene: clcn1 has been classified as Green List (High Evidence).","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-07-21T10:30:05.591618+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.28","user_name":"Sue White","item_type":"entity","text":"gene: CLCN1 was added\ngene: CLCN1 was added to Paroxysmal Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded comment: Mono- and biallelic variants cause mytonia congenita, which is an important differential diagnosis to other movement disorder presentations \nSources: Expert Review","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-07-20T20:27:14.454486+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSDHL as ready","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:27:14.441051+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Green List (High Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:27:11.963054+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSDHL were changed from  to CK syndrome (MIM#300831)","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:26:49.488843+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.758","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSDHL were set to ","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:26:23.534047+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:25:47.980317+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2779","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSDHL as ready","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:25:47.963299+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2779","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Green List (High Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:25:42.935181+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2779","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSDHL were changed from  to CK syndrome (MIM#300831)","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:25:18.478829+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2778","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSDHL were set to ","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:24:54.134266+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2777","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:21:19.259433+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3433","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR0B1 as ready","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:21:19.254226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3433","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note 46XY reversal disorder is only associated with duplications.","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:21:19.218676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3433","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b1 has been classified as Green List (High Evidence).","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:20:53.155766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3433","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200) to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM#\t300018","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:20:13.460117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3432","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR0B1 as Green List (high evidence)","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:20:13.452930+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3432","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b1 has been classified as Green List (High Evidence).","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:19:57.221245+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3431","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR0B1 as Amber List (moderate evidence)","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:19:57.214626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b1 has been classified as Amber List (Moderate Evidence).","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:19:43.013209+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: NR0B1.","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:18:54.491071+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR0B1 as ready","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:18:54.480297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b1 has been classified as Green List (High Evidence).","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:18:48.472307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR0B1 were changed from  to Adrenal hypoplasia, congenital (MIM# 300200)","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:18:33.637766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR0B1 were set to ","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:18:16.865314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NR0B1","entity_type":"gene"},{"created":"2020-07-20T20:17:39.304988+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSDHL as ready","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:17:39.291703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Green List (High Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:17:33.508667+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3427","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSDHL were changed from  to CHILD syndrome (MMIM#308050)","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:17:16.959248+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3426","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSDHL were set to ","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:16:59.670830+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3425","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-07-20T20:13:37.150126+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFR2 as ready","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:13:37.143205+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfr2 has been classified as Green List (High Evidence).","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:13:21.821133+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFR2 were changed from  to Haemochromatosis, type 3 (MIM#604250)","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:12:59.829690+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFR2 were set to ","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:12:34.873666+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:12:01.511879+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24847265, 29743178; Phenotypes: Haemochromatosis, type 3 (MIM#604250); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:11:07.871799+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3424","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:10:19.941398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFR2 as ready","entity_name":"TFR2","entity_type":"gene"},{"created":"2020-07-20T20:10:19.930372+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfr2 has been classified as Green List (High Evidence).","entity_name":"TFR2","entity_type":"gene"}]}