{"count":220966,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1957","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1955","results":[{"created":"2020-01-29T10:03:54.674073+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMP22 as ready","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T10:03:54.664475+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmp22 has been classified as Amber List (Moderate Evidence).","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T10:03:42.354246+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SALL1 as ready","entity_name":"SALL1","entity_type":"gene"},{"created":"2020-01-29T10:03:42.345117+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sall1 has been classified as Green List (High Evidence).","entity_name":"SALL1","entity_type":"gene"},{"created":"2020-01-29T10:03:25.626421+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SALL1 were changed from  to Townes-Brocks syndrome 1, MIM#107480","entity_name":"SALL1","entity_type":"gene"},{"created":"2020-01-29T10:02:53.113269+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SALL4","entity_type":"gene"},{"created":"2020-01-29T10:02:12.718719+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duane-radial ray syndrome, MIM# 607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SALL4","entity_type":"gene"},{"created":"2020-01-29T10:02:06.703744+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PMP22 were set to ","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T10:01:29.455740+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SALL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SALL1","entity_type":"gene"},{"created":"2020-01-29T10:00:49.150313+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SALL1","entity_type":"gene"},{"created":"2020-01-29T10:00:11.573223+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T09:59:38.206040+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934 to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:59:06.804477+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMP22 were changed from  to Charcot-Marie-Tooth disease, type 1E 118300","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T09:59:06.196971+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPT1 as ready","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:59:06.193511+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Evidence for gene-disease association rated as LIMITED by ClinGen. However, note deafness is also a feature of the multi-system, Leigh-like disorder caused by bi-allelic PNPT1 variants and therefore rated as Green.","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:59:06.171915+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:58:34.525507+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPT1 were set to ","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:58:00.181737+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:57:27.163713+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from  to Combined oxidative phosphorylation deficiency 13, MIM#614932; Deafness, autosomal recessive 70, MIM#614934","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:56:54.813489+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNPT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:56:23.160544+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNPT1 as Green List (high evidence)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:56:23.153425+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:55:51.046816+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNPT1 as Red List (low evidence)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:55:51.029408+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Red List (Low Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:55:09.159522+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: None; Publications: 23084290, 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM#614932, Deafness, autosomal recessive 70, MIM#614934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-01-29T09:49:04.880623+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PBX1 as ready","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-01-29T09:49:04.870550+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Green List (High Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-01-29T09:49:02.912095+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMP22 as Amber List (moderate evidence)","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T09:49:02.903722+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmp22 has been classified as Amber List (Moderate Evidence).","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T09:48:30.957639+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PBX1 were changed from  to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-01-29T09:46:55.644219+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: None; Publications: 8355122, 10330345, 12578939; Phenotypes: Charcot-Marie-Tooth disease, type 1E 118300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PMP22","entity_type":"gene"},{"created":"2020-01-29T09:46:45.457509+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.245","user_name":"Lilian Rudd","item_type":"entity","text":"reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23851939, 29681087; Phenotypes: otofaciocervical syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAX1","entity_type":"gene"},{"created":"2020-01-29T09:42:17.887676+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PBX1 were set to ","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-01-29T09:40:02.074309+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-01-29T09:40:02.066524+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa1 has been classified as Green List (High Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-01-29T09:39:57.044369+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-01-29T09:39:14.297544+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-01-29T09:37:54.807653+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA1 were changed from  to Optic atrophy plus syndrome, MIM# 125250","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-01-29T09:37:15.206108+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-01-29T09:36:33.096459+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-01-29T09:35:27.788777+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:35:10.758782+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OSBPL2 as ready","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:35:10.748285+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: osbpl2 has been classified as Green List (High Evidence).","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:34:52.055552+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OSBPL2 were changed from  to Deafness, autosomal dominant 67, MIM# 616340","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:34:42.254830+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR2F1 as ready","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:34:42.246059+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f1 has been classified as Red List (Low Evidence).","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:34:20.264806+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR2F1 were set to ","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:33:45.829862+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR2F1 were changed from  to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:33:13.283935+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:32:48.568126+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.239","user_name":"Lilian Rudd","item_type":"entity","text":"reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23345450, 24211385; Phenotypes: autosomal dominant deafness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"P2RX2","entity_type":"gene"},{"created":"2020-01-29T09:32:40.857882+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OSBPL2 were set to ","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:32:08.574959+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR2F1 as Red List (low evidence)","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:32:08.547525+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f1 has been classified as Red List (Low Evidence).","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:31:28.033612+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 19353646, 24462372; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR2F1","entity_type":"gene"},{"created":"2020-01-29T09:26:03.598653+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:25:57.933337+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T09:25:57.924581+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T09:25:21.335778+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67, MIM# 616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-01-29T09:23:59.103293+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.237","user_name":"Lilian Rudd","item_type":"entity","text":"reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MASP1","entity_type":"gene"},{"created":"2020-01-29T09:19:46.423789+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T09:19:14.514598+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T09:18:40.609654+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from  to Pituitary hormone deficiency, combined, 3, MIM# 221750","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T09:18:08.534493+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T09:17:17.434120+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LHX3","entity_type":"gene"},{"created":"2020-01-29T08:34:34.450600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25839420, 25728776; Phenotypes: Short stature, microcephaly, and endocrine dysfunction (MIM#616541); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XRCC4","entity_type":"gene"},{"created":"2020-01-29T08:33:11.371134+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.74","user_name":"Crystle Lee","item_type":"entity","text":"gene: XRCC4 was added\ngene: XRCC4 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC4 were set to PMID: 25839420; 25728776\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)\nReview for gene: XRCC4 was set to GREEN\nAdded comment: Biallelic variants reported in multiple affected families with microcephaly \nSources: Literature","entity_name":"XRCC4","entity_type":"gene"},{"created":"2020-01-28T22:23:44.634554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIMP2 as ready","entity_name":"AIMP2","entity_type":"gene"},{"created":"2020-01-28T22:23:44.627374+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aimp2 has been classified as Red List (Low Evidence).","entity_name":"AIMP2","entity_type":"gene"},{"created":"2020-01-28T22:21:43.740199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUP37 as ready","entity_name":"NUP37","entity_type":"gene"},{"created":"2020-01-28T22:21:43.732545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nup37 has been classified as Red List (Low Evidence).","entity_name":"NUP37","entity_type":"gene"},{"created":"2020-01-28T22:20:41.680617+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCRIB as ready","entity_name":"SCRIB","entity_type":"gene"},{"created":"2020-01-28T22:20:41.673257+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scrib has been classified as Red List (Low Evidence).","entity_name":"SCRIB","entity_type":"gene"},{"created":"2020-01-28T22:20:30.168203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1007","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCRIB were set to ","entity_name":"SCRIB","entity_type":"gene"},{"created":"2020-01-28T22:01:45.400165+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDSR as ready","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T22:01:45.392382+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdsr has been classified as Red List (Low Evidence).","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T22:01:39.548656+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4 MIM#617526 to Erythrokeratodermia variabilis et progressiva 4 MIM#617526","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T22:01:00.590878+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDSR were changed from  to Erythrokeratodermia variabilis et progressiva 4 MIM#617526","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T22:00:26.080702+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T21:59:49.261071+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDSR as Red List (low evidence)","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T21:59:49.253817+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdsr has been classified as Red List (Low Evidence).","entity_name":"KDSR","entity_type":"gene"},{"created":"2020-01-28T21:22:58.624396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANK3 as ready","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:22:58.617123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank3 has been classified as Red List (Low Evidence).","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:22:39.998180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANK3 were changed from  to Mental retardation, autosomal recessive, 37, MIM# 615493","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:22:24.559541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1005","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANK3 were set to ","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:22:07.915983+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1004","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:21:50.074901+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1003","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANK3 as Red List (low evidence)","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:21:50.067271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank3 has been classified as Red List (Low Evidence).","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:21:30.718546+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1002","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:21:03.661851+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANK3 were set to 23390136; 28687526","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:20:41.398777+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANK3 as ready","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:20:41.389999+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank3 has been classified as Red List (Low Evidence).","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:20:27.977328+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANK3 were set to 23390136; 28687526","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:19:56.137562+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1744","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANK3 were set to ","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:19:23.786963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1744","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:18:50.828872+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1744","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANK3 were changed from  to Mental retardation, autosomal recessive, 37 615493","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:18:17.385602+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1743","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANK3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:17:43.675635+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1743","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANK3 as Red List (low evidence)","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:17:43.667373+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1743","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank3 has been classified as Red List (Low Evidence).","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:16:52.064971+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1742","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANK3: Rating: RED; Mode of pathogenicity: None; Publications: 23390136, 28687526; Phenotypes: Mental retardation, autosomal recessive, 37 615493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANK3","entity_type":"gene"},{"created":"2020-01-28T21:11:32.066725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1742","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALX4 as ready","entity_name":"ALX4","entity_type":"gene"}]}