{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1894","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1892","results":[{"created":"2020-03-24T20:51:24.049144+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FLNB were set to ","entity_name":"FLNB","entity_type":"gene"},{"created":"2020-03-24T17:53:47.581887+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.10","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22190451, 29566257; Phenotypes: Atelosteogenesis, type I AD MIM#108720, Atelosteogenesis, type III AD MIM#108721, Boomerang dysplasia AD MIM#112310, Larsen syndrome AD MIM#150250, Spondylocarpotarsal synostosis syndrome AR MIM#272460; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FLNB","entity_type":"gene"},{"created":"2020-03-24T16:58:04.322200+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POC5 as ready","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:58:04.305667+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: poc5 has been classified as Amber List (Moderate Evidence).","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:57:55.594319+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POC5 as Amber List (moderate evidence)","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:57:55.586079+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: poc5 has been classified as Amber List (Moderate Evidence).","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:57:44.323689+11:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POC5 was added\ngene: POC5 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list\nMode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POC5 were set to 29272404\nPhenotypes for gene: POC5 were set to retinitis pigmentosa; short stature; microcephaly; recurrent glomerulonephritis\nReview for gene: POC5 was set to AMBER\nAdded comment: One case with a homozygous truncating variant and a supporting zebrafish model. \nSources: Expert list","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:56:07.786906+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POC5 as ready","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:56:07.773854+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: poc5 has been classified as Amber List (Moderate Evidence).","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:56:01.421477+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POC5 as Amber List (moderate evidence)","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:56:01.408117+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: poc5 has been classified as Amber List (Moderate Evidence).","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T16:55:46.142348+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29272404; Phenotypes: retinitis pigmentosa, short stature, microcephaly, recurrent glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POC5","entity_type":"gene"},{"created":"2020-03-24T12:40:53.553242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1827","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 7506602, 10338090; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, 236200, Thrombosis, hyperhomocysteinemic, 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CBS","entity_type":"gene"},{"created":"2020-03-23T19:20:36.575122+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-03-23T17:43:26.883692+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXP3 as ready","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T17:43:26.870186+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp3 has been classified as Red List (Low Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T17:43:22.663315+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXP3 were changed from  to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T17:42:54.646587+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T17:42:28.441522+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXP3 as Red List (low evidence)","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T17:42:28.428555+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxp3 has been classified as Red List (Low Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T17:41:29.235251+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GUCY2C as ready","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T17:41:29.221748+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gucy2c has been classified as Red List (Low Evidence).","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T17:41:24.167423+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GUCY2C were changed from  to Diarrhea 6, 614616; Meconium ileus, 614665","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T17:41:01.279430+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GUCY2C as Red List (low evidence)","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T17:41:01.265821+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gucy2c has been classified as Red List (Low Evidence).","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T15:41:18.683004+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Hereditary Neuropathy - complex_RMH to Hereditary Neuropathy - complex\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-03-23T15:38:52.365494+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX12","entity_type":"gene"},{"created":"2020-03-23T15:35:30.625151+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: None; Publications: 21419568; Phenotypes: Spastic paraplegia 6, autosomal dominant MIM#600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NIPA1","entity_type":"gene"},{"created":"2020-03-23T15:32:35.755588+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493, 19409521; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IFRD1","entity_type":"gene"},{"created":"2020-03-23T15:31:36.121305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HTR3C as ready","entity_name":"HTR3C","entity_type":"gene"},{"created":"2020-03-23T15:31:36.114953+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association currently.","entity_name":"HTR3C","entity_type":"gene"},{"created":"2020-03-23T15:31:36.069505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htr3c has been classified as Red List (Low Evidence).","entity_name":"HTR3C","entity_type":"gene"},{"created":"2020-03-23T15:30:37.348284+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HTR3C were set to ","entity_name":"HTR3C","entity_type":"gene"},{"created":"2020-03-23T15:30:22.086778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HTR3C as Red List (low evidence)","entity_name":"HTR3C","entity_type":"gene"},{"created":"2020-03-23T15:30:22.078255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htr3c has been classified as Red List (Low Evidence).","entity_name":"HTR3C","entity_type":"gene"},{"created":"2020-03-23T15:29:43.938646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZFP42 as ready","entity_name":"ZFP42","entity_type":"gene"},{"created":"2020-03-23T15:29:43.930097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfp42 has been classified as Red List (Low Evidence).","entity_name":"ZFP42","entity_type":"gene"},{"created":"2020-03-23T15:29:04.741400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZFP42 as Red List (low evidence)","entity_name":"ZFP42","entity_type":"gene"},{"created":"2020-03-23T15:29:04.727538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zfp42 has been classified as Red List (Low Evidence).","entity_name":"ZFP42","entity_type":"gene"},{"created":"2020-03-23T15:27:51.429683+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYBA as ready","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-03-23T15:27:51.416564+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyba has been classified as Red List (Low Evidence).","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-03-23T15:27:48.883113+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYBA were changed from  to Chronic granulomatous disease","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-03-23T15:27:31.876419+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.54","user_name":"Lauren Akesson","item_type":"entity","text":"commented on gene: GUCY2C: Cataract does not appear to be a typical feature in these conditions (OMIM)","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T15:27:27.312328+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-03-23T15:27:19.774248+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.53","user_name":"Lauren Akesson","item_type":"entity","text":"edited their review of gene: GUCY2C: Changed rating: RED","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T15:27:04.791043+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYBA as Red List (low evidence)","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-03-23T15:27:04.777711+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyba has been classified as Red List (Low Evidence).","entity_name":"CYBA","entity_type":"gene"},{"created":"2020-03-23T15:26:47.362667+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.52","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: GUCY2C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhea 6, 614616, Meconium ileus, 614665; Mode of inheritance: None","entity_name":"GUCY2C","entity_type":"gene"},{"created":"2020-03-23T15:26:21.426860+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYBB as ready","entity_name":"CYBB","entity_type":"gene"},{"created":"2020-03-23T15:26:21.418002+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cybb has been classified as Red List (Low Evidence).","entity_name":"CYBB","entity_type":"gene"},{"created":"2020-03-23T15:26:18.311856+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYBB were changed from  to Chronic granulomatous disease; immunodeficiency 34 with mycobacteriosis","entity_name":"CYBB","entity_type":"gene"},{"created":"2020-03-23T15:25:55.638761+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYBB 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":"CYBB","entity_type":"gene"},{"created":"2020-03-23T15:25:50.173299+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GJB3 as ready","entity_name":"GJB3","entity_type":"gene"},{"created":"2020-03-23T15:25:50.159304+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gjb3 has been classified as Red List (Low Evidence).","entity_name":"GJB3","entity_type":"gene"},{"created":"2020-03-23T15:25:34.931083+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 11309368, 19755382, 16077902, 17142249, 12165562; Phenotypes: ; Mode of inheritance: None","entity_name":"GJB3","entity_type":"gene"},{"created":"2020-03-23T15:25:32.105867+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYBB as Red List (low evidence)","entity_name":"CYBB","entity_type":"gene"},{"created":"2020-03-23T15:25:32.092477+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cybb has been classified as Red List (Low Evidence).","entity_name":"CYBB","entity_type":"gene"},{"created":"2020-03-23T15:24:54.262318+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCLRE1C as ready","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-03-23T15:24:54.249233+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dclre1c has been classified as Red List (Low Evidence).","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-03-23T15:24:51.132018+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCLRE1C were changed from  to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-03-23T15:16:54.921507+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-03-23T15:16:32.828811+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCLRE1C as Red List (low evidence)","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-03-23T15:16:32.815623+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dclre1c has been classified as Red List (Low Evidence).","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2020-03-23T15:15:52.075927+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK8 as ready","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:15:52.064449+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock8 has been classified as Red List (Low Evidence).","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:15:49.070345+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK8 were changed from  to Hyper-IgE recurrent infection syndrome 243700","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:15:26.507186+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK8 were set to ","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:15:03.948530+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:14:37.052079+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DOCK8.","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:14:31.787760+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DOCK8 as Red List (low evidence)","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:14:31.774757+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock8 has been classified as Red List (Low Evidence).","entity_name":"DOCK8","entity_type":"gene"},{"created":"2020-03-23T15:13:48.360358+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EED as ready","entity_name":"EED","entity_type":"gene"},{"created":"2020-03-23T15:13:48.356354+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Single individual reported, unclear at present whether this a feature of the phenotype or a coincidence.","entity_name":"EED","entity_type":"gene"},{"created":"2020-03-23T15:13:48.323868+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eed has been classified as Red List (Low Evidence).","entity_name":"EED","entity_type":"gene"},{"created":"2020-03-23T15:13:27.401228+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EED as Red List (low evidence)","entity_name":"EED","entity_type":"gene"},{"created":"2020-03-23T15:13:27.388583+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eed has been classified as Red List (Low Evidence).","entity_name":"EED","entity_type":"gene"},{"created":"2020-03-23T15:12:33.807616+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPCAM as ready","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:12:33.798875+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epcam has been classified as Red List (Low Evidence).","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:12:31.139337+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPCAM were changed from  to Congenital diarrhoea 5 with tufting enteropathy; Lynch syndrome","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:12:30.722768+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.40","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FOXP3","entity_type":"gene"},{"created":"2020-03-23T15:12:08.521778+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPCAM were set to ","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:11:20.152727+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPCAM was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:10:58.667878+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EPCAM as Red List (low evidence)","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:10:58.659097+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epcam has been classified as Red List (Low Evidence).","entity_name":"EPCAM","entity_type":"gene"},{"created":"2020-03-23T15:10:17.952521+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T15:10:17.943421+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Amber List (Moderate Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T15:10:14.196896+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T15:09:46.835634+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T15:09:24.762091+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T15:08:53.136635+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKRP as Amber List (moderate evidence)","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T15:08:53.123674+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Amber List (Moderate Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-03-23T14:57:26.622288+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AMPD2 as ready","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-03-23T14:57:26.613650+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ampd2 has been classified as Red List (Low Evidence).","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-03-23T14:56:58.320377+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 27066553; Phenotypes: ; Mode of inheritance: None","entity_name":"AMPD2","entity_type":"gene"},{"created":"2020-03-23T14:55:39.119955+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XPNPEP3 as Red List (low evidence)","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-03-23T14:55:39.106519+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpnpep3 has been classified as Red List (Low Evidence).","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-03-23T14:55:08.076988+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2020-03-23T14:52:54.021000+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:RBM7 from the panel","entity_name":null,"entity_type":null},{"created":"2020-03-23T14:40:12.825090+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Three unrelated families/cases reported with axonal motor neuropathy; to: Three unrelated families/cases reported with a complex phenotype including axonal motor neuropathy","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-03-23T14:39:25.866603+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PEX10 as ready","entity_name":"PEX10","entity_type":"gene"}]}