{"count":220497,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1543","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1541","results":[{"created":"2020-10-12T13:18:41.250969+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEUROD1 were changed from ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:17:48.119285+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Mono-allelic variants in this gene are associated with MODY.\r\n\r\nRare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals.; to: Mono-allelic variants in this gene are associated with MODY.\r\n\r\nRare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals. Functional data to support gene's role in retina.","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:16:25.882480+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEUROD1: Changed rating: GREEN","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:16:19.887561+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEUROD1: Rating: ; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:08:19.287524+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTTP as ready","entity_name":"MTTP","entity_type":"gene"},{"created":"2020-10-12T13:08:19.278568+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mttp has been classified as Green List (High Evidence).","entity_name":"MTTP","entity_type":"gene"},{"created":"2020-10-12T13:08:16.625728+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTTP were changed from  to Abetalipoproteinemia, MIM# 200100","entity_name":"MTTP","entity_type":"gene"},{"created":"2020-10-12T13:08:07.801394+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2020-10-12T13:07:55.248073+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2020-10-12T12:54:28.348401+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFN2 as ready","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:54:28.336655+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Amber List (Moderate Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:54:13.144345+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFN2 were changed from  to Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:54:05.501970+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFN2 were set to ","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:53:56.381809+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:53:47.983311+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MFN2 as Amber List (moderate evidence)","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:53:47.974208+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Amber List (Moderate Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:53:38.869212+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30922813, 28487236, 21707411, 22957060; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-10-12T12:41:51.840734+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA1 as ready","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-10-12T12:41:51.830202+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-10-12T12:41:38.556418+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA1 were changed from  to Poretti-Boltshauser syndrome, MIM# 615960","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-10-12T12:41:29.767745+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-10-12T12:41:20.298363+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-10-12T12:33:27.024864+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INVS as ready","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T12:33:27.016640+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: invs has been classified as Amber List (Moderate Evidence).","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T12:33:24.797621+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile to Nephronophthisis 2, infantile, MIM#602088","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T12:33:14.260919+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INVS were set to ","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T12:33:06.370605+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INVS as Amber List (moderate evidence)","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T12:33:06.358608+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: invs has been classified as Amber List (Moderate Evidence).","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T12:32:53.709122+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: None; Publications: 16522655; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INVS","entity_type":"gene"},{"created":"2020-10-12T11:14:02.065309+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKBKG as ready","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-10-12T11:14:02.048542+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-10-12T11:13:57.854613+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKBKG as Green List (high evidence)","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-10-12T11:13:57.846395+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-10-12T11:13:47.655929+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKBKG was added\ngene: IKBKG was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: IKBKG was set to Other\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti, MIM#\t308300\nReview for gene: IKBKG was set to GREEN\nAdded comment: Well established gene-disease association. Eye involvement is variable, but retinal abnormalities are common including retinal vascular proliferation, retinal ischaemia, retinal bleeding, retinal fibrosis, retinal detachment, foveal hypoplasia, foveal disorganisation. \nSources: Expert list","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-10-12T11:03:14.152687+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT81 as ready","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:03:14.142913+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift81 has been classified as Amber List (Moderate Evidence).","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:03:10.318250+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT81 were changed from  to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:03:00.376483+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT81 were set to ","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:02:51.441547+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:02:39.199698+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT81 as Amber List (moderate evidence)","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:02:39.182216+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift81 has been classified as Amber List (Moderate Evidence).","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:01:31.047368+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence of retinal phenotype.; to: Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence for retinal phenotype.","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T11:01:24.310957+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 28460050, 26275418, 27666822, 32783357; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT81","entity_type":"gene"},{"created":"2020-10-12T10:12:14.841593+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT172 as ready","entity_name":"IFT172","entity_type":"gene"},{"created":"2020-10-12T10:12:14.827175+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift172 has been classified as Green List (High Evidence).","entity_name":"IFT172","entity_type":"gene"},{"created":"2020-10-12T10:12:12.165081+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT172 were changed from Retinitis pigmentosa 71 to Retinitis pigmentosa 71, MIM#616394","entity_name":"IFT172","entity_type":"gene"},{"created":"2020-10-12T10:12:01.859995+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT172 were set to ","entity_name":"IFT172","entity_type":"gene"},{"created":"2020-10-12T10:11:49.415011+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 25168386, 29659833; Phenotypes: Retinitis pigmentosa 71, MIM# 616394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2020-10-12T09:17:51.216962+11:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-12T09:15:26.250739+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-12T09:08:23.313901+11:00","panel_name":"Retinal Disorders","panel_id":3124,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-12T09:01:14.467876+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-12T08:33:40.096332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4882","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DNAAF4.\nTag founder tag was added to gene: DNAAF4.","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:33:25.483725+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4882","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAAF4 as ready","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:33:25.476038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4882","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf4 has been classified as Green List (High Evidence).","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:33:19.018284+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4882","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAAF4 were changed from  to Ciliary dyskinesia, primary, 25, MIM# 615482","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:32:59.614192+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4881","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAAF4 were set to ","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:32:41.985993+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4880","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAAF4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:32:32.763508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4880","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:32:11.173959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4879","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM# 615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:31:41.394150+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DNAAF4.\nTag founder tag was added to gene: DNAAF4.","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:31:17.033249+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAAF4 as ready","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:31:17.012928+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf4 has been classified as Green List (High Evidence).","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:31:13.393308+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DNAAF4.\nTag founder tag was added to gene: DNAAF4.","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:31:03.175710+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAAF4 were changed from  to Ciliary dyskinesia, primary, 25, MIM# 615482","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:30:35.578247+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAAF4 were set to ","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:30:08.702866+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:29:39.216038+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM# 615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:28:29.339269+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAAF4 were set to ","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:27:59.001876+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Note there is a common 3.5kb affecting exon 7, possible founder effect.; to: Well established gene-disease association, multiple families and animal model. Note there is a common 3.5kb affecting exon 7, possible founder effect.","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:27:37.296272+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAAF4: Changed publications: 23872636","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:27:06.285196+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAAF4 as ready","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:27:06.277269+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnaaf4 has been classified as Green List (High Evidence).","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:27:03.479824+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAAF4 were changed from  to Ciliary dyskinesia, primary, 25, MIM# 615482","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:26:21.458184+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-12T08:24:18.613030+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 25, MIM# 615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAAF4","entity_type":"gene"},{"created":"2020-10-11T21:03:36.101181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, MIM# 616680 to Spastic paraplegia 75, autosomal recessive, MIM# 616680; Cerebellar ataxia","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:03:16.039056+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4878","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood. Eight unrelated families reported.; to: Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood. Eight unrelated families reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:02:42.771578+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:02:40.333845+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood. Eight unrelated families reported.; to: Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood. Eight unrelated families reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:02:15.647157+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAG were changed from Spastic paraplegia 75, autosomal recessive, 616680 to Spastic paraplegia 75, autosomal recessive, 616680; Cerebellar ataxia","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:01:48.332160+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAG: Changed phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680, Cerebellar ataxia","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:01:23.910050+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAG: Added comment: Four more individuals reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.; Changed publications: 24482476, 26179919, 31402626, 32629324, 32629324","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:00:48.099552+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAG were set to 32629324; 32340215","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T21:00:30.880378+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAG: Added comment: Four more individuals reported with variable combinations of psychomotor delay, ataxia, eye movement abnormalities, spasticity, dystonia, and neuropathic symptoms.; Changed publications: 32629324, 32340215, 32629324; Changed phenotypes: Spastic paraplegia 75, autosomal recessive, MIM# 616680, Cerebellar ataxia, Oculomotor apraxia","entity_name":"MAG","entity_type":"gene"},{"created":"2020-10-11T15:10:23.726426+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3065","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HK1 were changed from  to Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547","entity_name":"HK1","entity_type":"gene"},{"created":"2020-10-11T15:09:48.360354+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3064","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HK1","entity_type":"gene"},{"created":"2020-10-11T14:54:39.867480+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HCCS as ready","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-10-11T14:54:39.852803+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hccs has been classified as Green List (High Evidence).","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-10-11T14:54:36.090260+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HCCS as Green List (high evidence)","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-10-11T14:54:36.082472+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hccs has been classified as Green List (High Evidence).","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-10-11T14:54:27.425846+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HCCS was added\ngene: HCCS was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: HCCS was set to Other\nPhenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, MIM#\t309801\nReview for gene: HCCS was set to GREEN\nAdded comment: Complex disorder typically associated with microphthalmia and structural eye abnormalities, however pigmentary retinopathy also reported. \nSources: Expert list","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-10-11T14:46:09.081473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4878","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GZF1 as ready","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:46:09.073398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4878","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gzf1 has been classified as Green List (High Evidence).","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:46:02.577180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4878","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GZF1 were changed from  to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:45:46.088321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4877","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GZF1 were set to ","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:45:28.790381+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4876","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GZF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:45:11.587496+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4875","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33009817, 28475863; Phenotypes: Joint laxity, short stature, and myopia, MIM# 617662, Larsen-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:44:22.751660+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GZF1 were changed from Larsen syndrome to Joint laxity, short stature, and myopia, MIM# 617662; Larsen-like syndrome","entity_name":"GZF1","entity_type":"gene"},{"created":"2020-10-11T14:44:00.471997+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GZF1 were set to 28475863","entity_name":"GZF1","entity_type":"gene"}]}