{"count":220497,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1542","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1540","results":[{"created":"2020-10-14T10:57:26.084425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rgr has been classified as Red List (Low Evidence).","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:57:19.489421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4899","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RGR were changed from  to Retinitis pigmentosa 44, MIM# 613769","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:56:50.577671+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4898","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RGR were set to ","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:56:31.694633+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4897","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:56:14.666439+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4896","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RGR as Red List (low evidence)","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:56:14.659052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4896","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rgr has been classified as Red List (Low Evidence).","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:55:56.754639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RGR: Rating: RED; Mode of pathogenicity: None; Publications: 10581022, 30347075, 27748892, 27623334; Phenotypes: Retinitis pigmentosa 44, MIM# 613769; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:44.247323+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RGR as ready","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:44.234373+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rgr has been classified as Red List (Low Evidence).","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:40.299973+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RGR were set to ","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:31.362465+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RGR as Red List (low evidence)","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:31.352305+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rgr has been classified as Red List (Low Evidence).","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:22.756124+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: RGR.","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:54:14.043033+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RGR: Rating: RED; Mode of pathogenicity: None; Publications: 10581022, 30347075, 27748892, 27623334; Phenotypes: Retinitis pigmentosa 44, MIM# 613769; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RGR","entity_type":"gene"},{"created":"2020-10-14T10:04:57.025432+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RDH11 as ready","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:04:57.014869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh11 has been classified as Red List (Low Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:04:41.876540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4895","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RDH11 was added\ngene: RDH11 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RDH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732\nPhenotypes for gene: RDH11 were set to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108\nReview for gene: RDH11 was set to RED\nAdded comment: Single family reported with compound heterozygous LOF variants segregating with disease in three siblings. Some functional data, but note mouse KO did not have eye phenotype. \nSources: Expert list","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:03:01.511234+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RDH11 as ready","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:03:01.503043+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh11 has been classified as Red List (Low Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:02:59.222803+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RDH11 were changed from  to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:02:49.699130+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RDH11 were set to ","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:02:40.151451+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RDH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:02:29.241914+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RDH11 as Red List (low evidence)","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:02:29.230313+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh11 has been classified as Red List (Low Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T10:02:17.038762+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RDH11: Rating: RED; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RDH11","entity_type":"gene"},{"created":"2020-10-14T08:11:09.621514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4894","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP112 as ready","entity_name":"CEP112","entity_type":"gene"},{"created":"2020-10-14T08:11:09.610949+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4894","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep112 has been classified as Amber List (Moderate Evidence).","entity_name":"CEP112","entity_type":"gene"},{"created":"2020-10-14T08:11:00.283838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4894","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP112 were changed from Acephalic spermatozoa; infertility to Spermatogenic failure 44, MIM#619044; Acephalic spermatozoa; infertility","entity_name":"CEP112","entity_type":"gene"},{"created":"2020-10-14T08:10:34.421127+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4893","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP112: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 44, MIM#619044; Mode of inheritance: None","entity_name":"CEP112","entity_type":"gene"},{"created":"2020-10-14T08:09:10.509246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4893","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SVIL were changed from myopathy to Myofibrillar myopathy, MIM#619040","entity_name":"SVIL","entity_type":"gene"},{"created":"2020-10-14T08:08:51.642999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SVIL: Changed rating: AMBER; Changed phenotypes: Myofibrillar myopathy, MIM#619040","entity_name":"SVIL","entity_type":"gene"},{"created":"2020-10-13T18:51:29.303904+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM13 were set to 29258872; 28973654; 26507665","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-10-13T18:51:08.320035+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: 30710461; Phenotypes: Retinal dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-10-13T18:47:53.649319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PRDM13.\nTag 5'UTR tag was added to gene: PRDM13.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-10-13T18:47:07.550399+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM13 as ready","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-10-13T18:47:07.541731+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm13 has been classified as Green List (High Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-10-13T18:47:03.794162+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: PRDM13.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-10-13T18:43:38.687791+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POMGNT1: Changed phenotypes: Retinitis pigmentosa 76, MIM#617123","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-10-13T18:43:24.272435+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMGNT1 as ready","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-10-13T18:43:24.263599+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt1 has been classified as Green List (High Evidence).","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-10-13T18:43:20.774992+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMGNT1 were changed from Retinitis pigmentosa 76 to Retinitis pigmentosa 76, MIM#617123","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-10-13T18:43:01.326639+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMGNT1 were set to ","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-10-13T18:42:48.581833+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550, 26908613; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-10-13T18:32:31.193149+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PNPLA6: Changed publications: 24355708, 25033069","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-10-13T18:31:59.705312+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Ataxia is part of the phenotype. \nSources: Expert list; to: Choreoretinal dystrophy is part of the phenotype. \r\nSources: Expert list","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2020-10-13T18:29:28.564381+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; to: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171, three unrelated families reported.","entity_name":"PLK4","entity_type":"gene"},{"created":"2020-10-13T18:20:54.064099+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE6H as ready","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:20:54.056035+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde6h has been classified as Red List (Low Evidence).","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:20:51.841722+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024 to Retinal Cone Dystrophy 3, 610024","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:20:41.096262+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDE6H were set to 30679166","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:18:30.932875+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDE6H was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:18:08.086903+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE6H as Red List (low evidence)","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:18:08.078417+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde6h has been classified as Red List (Low Evidence).","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T18:17:58.674551+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: None; Publications: 15629837, 22901948; Phenotypes: Retinal cone dystrophy 3, MIM# 610024; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDE6H","entity_type":"gene"},{"created":"2020-10-13T17:35:15.563596+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX2 as ready","entity_name":"PAX2","entity_type":"gene"},{"created":"2020-10-13T17:35:15.550768+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax2 has been classified as Green List (High Evidence).","entity_name":"PAX2","entity_type":"gene"},{"created":"2020-10-13T17:35:13.074480+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX2 were changed from  to Papillorenal syndrome, MIM# 120330","entity_name":"PAX2","entity_type":"gene"},{"created":"2020-10-13T17:34:29.852801+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX2","entity_type":"gene"},{"created":"2020-10-13T17:34:20.087582+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillorenal syndrome, MIM# 120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX2","entity_type":"gene"},{"created":"2020-10-13T17:29:29.123241+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P3H2 as ready","entity_name":"P3H2","entity_type":"gene"},{"created":"2020-10-13T17:29:29.110039+11:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p3h2 has been classified as Green List (High Evidence).","entity_name":"P3H2","entity_type":"gene"},{"created":"2020-10-13T17:07:57.597408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPC6 as ready","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T17:07:57.579299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpc6 has been classified as Green List (High Evidence).","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T17:07:39.227887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GPC6.","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T17:07:21.310085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4892","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPC6 were changed from  to Omodysplasia 1 (MIM#258315), AR","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T17:06:42.656250+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4891","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPC6 were set to ","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T17:06:25.234107+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4890","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GPC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T12:15:56.487057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4889","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194; Phenotypes: Omodysplasia 1 (MIM#258315), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-13T07:37:44.572251+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TINF2 as ready","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-10-13T07:37:44.557988+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tinf2 has been classified as Green List (High Evidence).","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-10-13T07:37:40.319085+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TINF2 as Green List (high evidence)","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-10-13T07:37:40.307671+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tinf2 has been classified as Green List (High Evidence).","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-10-13T07:37:30.438799+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TINF2 was added\ngene: TINF2 was added to Syndromic Retinopathy. Sources: Expert list\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TINF2 were set to 18252230; 21477109; 28095086; 28866069; 29749240; 30478948\nPhenotypes for gene: TINF2 were set to Revesz syndrome, 268130\nReview for gene: TINF2 was set to GREEN\nAdded comment: Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings. \nSources: Expert list","entity_name":"TINF2","entity_type":"gene"},{"created":"2020-10-12T18:54:55.678098+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA7 as ready","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:54:55.666489+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata7 has been classified as Green List (High Evidence).","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:54:53.021751+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPATA7 were set to ","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:54:39.680673+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":"reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM#604232, Autosomal recessive juvenile retinitis pigmentosa, MIM#604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:53:19.173865+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA7 as ready","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:53:19.162869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata7 has been classified as Green List (High Evidence).","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:53:12.289667+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4889","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPATA7 were changed from  to Leber congenital amaurosis 3, MIM#604232; Autosomal recessive juvenile retinitis pigmentosa, MIM#604232","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:52:53.368855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4888","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPATA7 were set to ","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T18:52:32.561941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4887","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPATA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T17:36:51.741319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4886","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31908400, 32799588; Phenotypes: Leber congenital amaurosis 3, MIM#604232, Autosomal recessive juvenile retinitis pigmentosa, MIM#604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SPATA7","entity_type":"gene"},{"created":"2020-10-12T16:52:11.092287+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKHD1 as ready","entity_name":"PKHD1","entity_type":"gene"},{"created":"2020-10-12T16:52:11.080521+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkhd1 has been classified as Green List (High Evidence).","entity_name":"PKHD1","entity_type":"gene"},{"created":"2020-10-12T16:52:05.120713+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PKHD1 as Green List (high evidence)","entity_name":"PKHD1","entity_type":"gene"},{"created":"2020-10-12T16:52:05.110311+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkhd1 has been classified as Green List (High Evidence).","entity_name":"PKHD1","entity_type":"gene"},{"created":"2020-10-12T16:51:33.996417+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKHD1 was added\ngene: PKHD1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney disease 4, with or without hepatic disease, MIM#\t263200\nReview for gene: PKHD1 was set to GREEN\nAdded comment: Included due to possible phenotypic overlap. \nSources: Expert Review","entity_name":"PKHD1","entity_type":"gene"},{"created":"2020-10-12T13:36:33.955965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4886","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIRREL3 as ready","entity_name":"KIRREL3","entity_type":"gene"},{"created":"2020-10-12T13:36:33.948488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4886","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kirrel3 has been classified as Red List (Low Evidence).","entity_name":"KIRREL3","entity_type":"gene"},{"created":"2020-10-12T13:36:24.404341+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4886","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIRREL3 was added\ngene: KIRREL3 was added to Mendeliome. Sources: Expert list\nrefuted tags were added to gene: KIRREL3.\nMode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIRREL3 were set to 19012874\nPhenotypes for gene: KIRREL3 were set to Intellectual disability\nReview for gene: KIRREL3 was set to RED\nAdded comment: Variants associated with ID have now been re-classified based on population frequency. \nSources: Expert list","entity_name":"KIRREL3","entity_type":"gene"},{"created":"2020-10-12T13:34:44.797608+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":"Tag refuted tag was added to gene: KIRREL3.","entity_name":"KIRREL3","entity_type":"gene"},{"created":"2020-10-12T13:21:48.990353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEUROD1 as ready","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:21:48.970690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurod1 has been classified as Green List (High Evidence).","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:21:42.328180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEUROD1 were changed from  to Maturity-onset diabetes of the young 6, MIM#606394; Retinitis pigmentosa, retinopathy, permanent neonatal diabetes","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:21:23.840698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4884","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEUROD1 were set to ","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:20:50.929194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEUROD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:20:33.776420+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4882","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Maturity-onset diabetes of the young 6, MIM#606394, Retinitis pigmentosa, retinopathy, permanent neonatal diabetes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:18:43.507565+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":"Marked gene: NEUROD1 as ready","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2020-10-12T13:18:43.498947+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":"Gene: neurod1 has been classified as Green List (High Evidence).","entity_name":"NEUROD1","entity_type":"gene"}]}